#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TPRG1L	127262	broad.mit.edu	37	1	3544105	3544105	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:3544105G>T	ENST00000378344.2	+	4	583	c.512G>T	c.(511-513)aGt>aTt	p.S171I	TPRG1L_ENST00000344579.5_Missense_Mutation_p.S112I|RP11-46F15.2_ENST00000435049.1_RNA	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	171						cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GACAAGCAAAGTCGTCCTTCC	0.502																																						uc001akm.2		NA																	0					0						c.(511-513)AGT>ATT		tumor protein p63 regulated 1-like							178.0	177.0	178.0					1																	3544105		2203	4300	6503	SO:0001583	missense	127262					cell junction|synaptic vesicle		g.chr1:3544105G>T	BC019034	CCDS47.1	1p36.32	2008-02-05	2008-01-16	2008-01-16	ENSG00000158109	ENSG00000158109			27007	protein-coding gene	gene with protein product		611460	"""family with sequence similarity 79, member A"""	FAM79A		12477932	Standard	NM_182752		Approved	RP11-46F15.3, FLJ21811	uc001akm.3	Q5T0D9	OTTHUMG00000000609	ENST00000378344.2:c.512G>T	1.37:g.3544105G>T	ENSP00000367595:p.Ser171Ile					TPRG1L_uc009vlj.2_Missense_Mutation_p.S112I	p.S171I	NM_182752	NP_877429	Q5T0D9	TPRGL_HUMAN		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)	4	593	+	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	171					A8K1K4|Q8WV04	Missense_Mutation	SNP	ENST00000378344.2	37	c.512G>T	CCDS47.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597755	0.66332	.	.	ENSG00000158109	ENST00000378344;ENST00000456805;ENST00000344579	.	.	.	4.93	4.0	0.46444	.	0.213233	0.49916	D	0.000129	T	0.51975	0.1706	L	0.36672	1.1	0.40315	D	0.978766	D;D	0.65815	0.995;0.966	P;P	0.55161	0.77;0.69	T	0.49986	-0.8880	9	0.37606	T	0.19	20.5482	10.0276	0.42081	0.0932:0.0:0.9068:0.0	.	112;171	Q5T0D9-2;Q5T0D9	.;TPRGL_HUMAN	I	171;128;112	.	ENSP00000339714:S112I	S	+	2	0	TPRG1L	3533965	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.200000	0.58433	2.282000	0.76494	0.563000	0.77884	AGT		0.502	TPRG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001466.1	NM_182752		11	221	1	0	1.34e-11	1.67e-11	11	221				
DDI2	84301	broad.mit.edu	37	1	15959965	15959965	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:15959965G>A	ENST00000480945.1	+	4	708	c.537G>A	c.(535-537)caG>caA	p.Q179Q		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	179							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGGAGCAGCAGCAGGACCGAG	0.398																																						uc001awx.1		NA																	0					0						c.(535-537)CAG>CAA		DNA-damage inducible protein 2							168.0	202.0	190.0					1																	15959965		2203	4300	6503	SO:0001819	synonymous_variant	84301				proteolysis		aspartic-type endopeptidase activity	g.chr1:15959965G>A		CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.537G>A	1.37:g.15959965G>A						DDI2_uc001aww.2_Silent_p.Q179Q|DDI2_uc009voj.1_5'UTR	p.Q179Q	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	4	633	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	179					A8KAE1|Q7RTZ0|Q9BRT1	Silent	SNP	ENST00000480945.1	37	c.537G>A	CCDS30607.1																																																																																				0.398	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341		5	322	0	0	0	0	5	322				
GRHL3	57822	broad.mit.edu	37	1	24669194	24669194	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:24669194G>A	ENST00000350501.5	+	10	1344	c.1217G>A	c.(1216-1218)aGg>aAg	p.R406K	GRHL3_ENST00000361548.4_Missense_Mutation_p.R406K|GRHL3_ENST00000356046.2_Missense_Mutation_p.R360K|GRHL3_ENST00000342072.4_Missense_Mutation_p.R313K|GRHL3_ENST00000236255.4_Missense_Mutation_p.R411K	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	406					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GGAGCTGAGAGGAAGATGCGC	0.597																																						uc001biy.2		NA																	0				ovary(1)	1						c.(1231-1233)AGG>AAG		sister-of-mammalian grainyhead protein isoform							86.0	87.0	87.0					1																	24669194		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24669194G>A	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1217G>A	1.37:g.24669194G>A	ENSP00000288955:p.Arg406Lys					GRHL3_uc001bix.2_Missense_Mutation_p.R406K|GRHL3_uc001biz.2_Missense_Mutation_p.R313K	p.R411K	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	10	1278	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	406					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.1232G>A	CCDS252.2	.	.	.	.	.	.	.	.	.	.	G	35	5.506783	0.96386	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	4.83	4.83	0.62350	.	0.045838	0.85682	D	0.000000	T	0.71787	0.3381	M	0.84585	2.705	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.70227	0.968;0.915;0.915	T	0.77528	-0.2554	10	0.87932	D	0	-40.0763	17.0982	0.86642	0.0:0.0:1.0:0.0	.	360;411;406	A2A297;Q8TE85-2;G3XAF0	.;.;.	K	406;313;406;360;411	ENSP00000354943:R406K;ENSP00000340543:R313K;ENSP00000288955:R406K;ENSP00000348333:R360K;ENSP00000236255:R411K	ENSP00000236255:R411K	R	+	2	0	GRHL3	24541781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.306000	0.96204	2.516000	0.84829	0.563000	0.77884	AGG		0.597	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		5	126	0	0	0	0	5	126				
SYNC	81493	broad.mit.edu	37	1	33149862	33149862	+	Missense_Mutation	SNP	T	T	C	rs201938976	byFrequency	TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:33149862T>C	ENST00000409190.3	-	3	1813	c.1355A>G	c.(1354-1356)tAt>tGt	p.Y452C	SYNC_ENST00000373484.3_Missense_Mutation_p.Y452C|RBBP4_ENST00000373493.5_3'UTR	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	452	Coil 2.				intermediate filament-based process (GO:0045103)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						AACTGACTTATAAGTAGAGAG	0.433													T|||	4	0.000798722	0.003	0.0	5008	,	,		18566	0.0		0.0	False		,,,				2504	0.0					uc001bvt.2		NA																	0				ovary(1)	1						c.(1354-1356)TAT>TGT		syncoilin, intermediate filament 1 isoform 1							263.0	266.0	265.0					1																	33149862		2203	4300	6503	SO:0001583	missense	81493					intermediate filament|perinuclear region of cytoplasm	structural molecule activity	g.chr1:33149862T>C	AK024707	CCDS367.2, CCDS53294.1	1p35.1	2013-01-16	2008-09-19	2008-09-19	ENSG00000162520	ENSG00000162520		"""Intermediate filaments type III"""	28897	protein-coding gene	gene with protein product		611750	"""syncoilin, intermediate filament 1"""	SYNC1		11053421	Standard	NM_030786		Approved	SYNCOILIN	uc001bvt.2	Q9H7C4	OTTHUMG00000008087	ENST00000409190.3:c.1355A>G	1.37:g.33149862T>C	ENSP00000386439:p.Tyr452Cys					SYNC_uc010ohl.1_Missense_Mutation_p.Y452C|RBBP4_uc001bvr.2_3'UTR|RBBP4_uc001bvs.2_3'UTR|RBBP4_uc010ohj.1_3'UTR|RBBP4_uc010ohk.1_3'UTR	p.Y452C	NM_030786	NP_110413	Q9H7C4	SYNCI_HUMAN			3	1455	-			452			Coil 2.		B4DNK8|B4DY58|C9IY41	Missense_Mutation	SNP	ENST00000409190.3	37	c.1355A>G	CCDS367.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	18.01	3.528145	0.64860	.	.	ENSG00000162520	ENST00000373484;ENST00000409190	D;D	0.97186	-4.28;-4.28	5.71	4.57	0.56435	Filament (1);	0.167577	0.40469	N	0.001087	D	0.96374	0.8817	N	0.19112	0.55	0.47037	D	0.999297	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96484	0.9358	10	0.87932	D	0	.	11.4698	0.50261	0.1418:0.0:0.0:0.8582	.	452;452	Q9H7C4-2;Q9H7C4	.;SYNCI_HUMAN	C	452	ENSP00000362583:Y452C;ENSP00000386439:Y452C	ENSP00000362583:Y452C	Y	-	2	0	SYNC	32922449	1.000000	0.71417	0.861000	0.33841	0.899000	0.52679	2.770000	0.47662	1.079000	0.41038	0.459000	0.35465	TAT		0.433	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022129.3	NM_030786		139	187	0	0	0	0	139	187				
MACF1	23499	broad.mit.edu	37	1	39844998	39844998	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:39844998A>T	ENST00000372915.3	+	53	13502	c.13415A>T	c.(13414-13416)aAg>aTg	p.K4472M	MACF1_ENST00000289893.4_Missense_Mutation_p.K2907M|MACF1_ENST00000545844.1_Missense_Mutation_p.K2405M|MACF1_ENST00000539005.1_Missense_Mutation_p.K2384M|MACF1_ENST00000567887.1_Missense_Mutation_p.K4504M|MACF1_ENST00000317713.7_Missense_Mutation_p.K2405M|MACF1_ENST00000564288.1_Missense_Mutation_p.K4467M|MACF1_ENST00000361689.2_Missense_Mutation_p.K2405M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4472					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGGTTCACAAGGAGGCAAAC	0.468																																						uc010oiu.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(8719-8721)AAG>ATG		microfilament and actin filament cross-linker							204.0	203.0	203.0					1																	39844998		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39844998A>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13415A>T	1.37:g.39844998A>T	ENSP00000362006:p.Lys4472Met					MACF1_uc010ois.1_Missense_Mutation_p.K2405M|MACF1_uc001cda.1_Missense_Mutation_p.K2292M|MACF1_uc001cdc.1_Missense_Mutation_p.K1471M	p.K2907M	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		18	8851	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4472			Spectrin 3.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.8720A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.80|19.80	3.894734|3.894734	0.72639|0.72639	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.53423|.	0.62;0.62;0.62;0.62;0.62;0.62|.	6.04|6.04	4.89|4.89	0.63831|0.63831	.|.	0.282110|.	0.30134|.	N|.	0.010340|.	T|T	0.39835|0.39835	0.1093|0.1093	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	D;D;D|.	0.64830|.	0.994;0.96;0.96|.	D;D;P|.	0.68943|.	0.961;0.917;0.77|.	T|T	0.19614|0.19614	-1.0300|-1.0300	10|5	0.72032|.	D|.	0.01|.	.|.	11.3944|11.3944	0.49832|0.49832	0.9257:0.0:0.0743:0.0|0.9257:0.0:0.0743:0.0	.|.	4472;2405;2349|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	M|H	2405;4472;2405;2405;2384;2907|1517	ENSP00000439537:K2405M;ENSP00000362006:K4472M;ENSP00000354573:K2405M;ENSP00000313438:K2405M;ENSP00000444364:K2384M;ENSP00000289893:K2907M|.	ENSP00000289893:K2907M|.	K|Q	+|+	2|3	0|2	MACF1|MACF1	39617585|39617585	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.947000|0.947000	0.59692|0.59692	3.877000|3.877000	0.56123|0.56123	1.074000|1.074000	0.40909|0.40909	-0.417000|-0.417000	0.06048|0.06048	AAG|CAA		0.468	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	286	0	0	0	0	7	286				
HPDL	84842	broad.mit.edu	37	1	45792887	45792887	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:45792887C>T	ENST00000334815.3	+	1	343	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	23					aromatic amino acid family metabolic process (GO:0009072)		4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					GCCCCTAGCCCGGAACCTGCA	0.697																																						uc001cne.2		NA																	0					0						c.(67-69)CGG>TGG		glyoxalase domain containing 1							16.0	20.0	18.0					1																	45792887		2194	4278	6472	SO:0001583	missense	84842				aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr1:45792887C>T	BC007293	CCDS519.1	1p34.1	2008-02-05	2007-03-14	2007-03-14	ENSG00000186603	ENSG00000186603			28242	protein-coding gene	gene with protein product			"""glyoxalase domain containing 1"""	GLOXD1		12477932	Standard	NM_032756		Approved	MGC15668, 4-HPPD-L	uc001cne.3	Q96IR7	OTTHUMG00000007681	ENST00000334815.3:c.67C>T	1.37:g.45792887C>T	ENSP00000335060:p.Arg23Trp						p.R23W	NM_032756	NP_116145	Q96IR7	HPDL_HUMAN			1	343	+	Acute lymphoblastic leukemia(166;0.155)		23					B2R9B0	Missense_Mutation	SNP	ENST00000334815.3	37	c.67C>T	CCDS519.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044108	0.36085	.	.	ENSG00000186603	ENST00000334815	T	0.65364	-0.15	5.06	0.773	0.18516	.	0.621564	0.16708	N	0.202832	T	0.62356	0.2421	L	0.51422	1.61	0.09310	N	1	D	0.56521	0.976	P	0.52856	0.711	T	0.54892	-0.8225	10	0.45353	T	0.12	-27.9058	9.59	0.39539	0.4737:0.3021:0.2242:0.0	.	23	Q96IR7	HPDL_HUMAN	W	23	ENSP00000335060:R23W	ENSP00000335060:R23W	R	+	1	2	HPDL	45565474	0.000000	0.05858	0.207000	0.23584	0.110000	0.19582	-0.134000	0.10436	-0.010000	0.14271	-0.176000	0.13171	CGG		0.697	HPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020527.1	NM_032756		14	19	0	0	0	0	14	19				
ROR1	4919	broad.mit.edu	37	1	64643163	64643163	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:64643163G>A	ENST00000371079.1	+	9	1814	c.1439G>A	c.(1438-1440)gGt>gAt	p.G480D	ROR1_ENST00000545203.1_5'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	480	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GAAGAATTGGGTGAGTGTGCC	0.423																																						uc001dbj.2		NA																	0				ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						c.(1438-1440)GGT>GAT		receptor tyrosine kinase-like orphan receptor 1							158.0	169.0	165.0					1																	64643163		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64643163G>A	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1439G>A	1.37:g.64643163G>A	ENSP00000360120:p.Gly480Asp					uc001dbm.2_5'Flank	p.G480D	NM_005012	NP_005003	Q01973	ROR1_HUMAN			9	1838	+			480			ATP (By similarity).|Cytoplasmic (Potential).|Protein kinase.		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.1439G>A	CCDS626.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216976	0.79352	.	.	ENSG00000185483	ENST00000371079;ENST00000544776	T	0.78364	-1.17	5.94	5.94	0.96194	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43919	D	0.000508	D	0.91161	0.7216	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92266	0.5821	10	0.87932	D	0	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	480	Q01973	ROR1_HUMAN	D	480;483	ENSP00000360120:G480D	ENSP00000360120:G480D	G	+	2	0	ROR1	64415751	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	9.466000	0.97665	2.820000	0.97059	0.650000	0.86243	GGT		0.423	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		21	270	0	0	0	0	21	270				
LEPR	3953	broad.mit.edu	37	1	66074565	66074565	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:66074565G>T	ENST00000349533.6	+	12	1918	c.1733G>T	c.(1732-1734)gGa>gTa	p.G578V	LEPR_ENST00000371060.3_Missense_Mutation_p.G578V|LEPR_ENST00000371059.3_Missense_Mutation_p.G578V|LEPR_ENST00000344610.8_Missense_Mutation_p.G578V|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.G578V	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GGTTTAAGTGGAAAAGAAGTA	0.303																																						uc001dci.2		NA																	0				skin(1)	1						c.(1732-1734)GGA>GTA		leptin receptor isoform 1							65.0	70.0	68.0					1																	66074565		2202	4299	6501	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66074565G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1733G>T	1.37:g.66074565G>T	ENSP00000330393:p.Gly578Val					LEPR_uc001dcg.2_Missense_Mutation_p.G578V|LEPR_uc001dch.2_Missense_Mutation_p.G578V|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.G578V|LEPR_uc001dck.2_Missense_Mutation_p.G578V	p.G578V	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	12	1935	+			578			Extracellular (Potential).|Fibronectin type-III 2.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.1733G>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002348	0.54254	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.89	4.0	0.46444	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.391591	0.30101	N	0.010410	T	0.56645	0.1999	M	0.67700	2.07	0.42617	D	0.993334	P;P;D	0.58620	0.586;0.813;0.983	P;P;D	0.64776	0.461;0.867;0.929	T	0.56715	-0.7933	10	0.32370	T	0.25	-2.8555	12.6916	0.56978	0.1347:0.0:0.8653:0.0	.	578;578;578	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	V	578	ENSP00000340884:G578V;ENSP00000330393:G578V;ENSP00000360099:G578V;ENSP00000360098:G578V;ENSP00000360097:G578V	ENSP00000340884:G578V	G	+	2	0	LEPR	65847153	1.000000	0.71417	0.942000	0.38095	0.796000	0.44982	2.791000	0.47829	1.510000	0.48803	0.650000	0.86243	GGA		0.303	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		16	28	1	0	1.34e-09	1.65e-09	16	28				
CLCA2	9635	broad.mit.edu	37	1	86904619	86904619	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:86904619A>T	ENST00000370565.4	+	7	1195	c.1033A>T	c.(1033-1035)Att>Ttt	p.I345F		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	345	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GATTGTTGAAATTCATACCTT	0.418																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	uc001dlr.3		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1033-1035)ATT>TTT		chloride channel accessory 2 precursor							102.0	98.0	100.0					1																	86904619		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86904619A>T		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1033A>T	1.37:g.86904619A>T	ENSP00000359596:p.Ile345Phe						p.I345F	NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	7	1195	+		Lung NSC(277;0.238)	345			VWFA.|Extracellular (Potential).		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.1033A>T	CCDS708.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.756430	0.49362	.	.	ENSG00000137975	ENST00000370565	T	0.66815	-0.23	5.92	3.62	0.41486	von Willebrand factor, type A (3);	1.005140	0.07994	N	0.987555	T	0.36110	0.0955	N	0.22421	0.69	0.27618	N	0.948428	P	0.49696	0.927	B	0.42771	0.397	T	0.18935	-1.0321	10	0.59425	D	0.04	-2.3122	8.1513	0.31143	0.6942:0.0:0.3058:0.0	.	345	Q9UQC9	CLCA2_HUMAN	F	345	ENSP00000359596:I345F	ENSP00000359596:I345F	I	+	1	0	CLCA2	86677207	0.141000	0.22595	0.988000	0.46212	0.966000	0.64601	0.524000	0.22940	0.510000	0.28216	0.533000	0.62120	ATT		0.418	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		6	73	0	0	0	0	6	73				
HS2ST1	9653	broad.mit.edu	37	1	87558326	87558326	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:87558326C>T	ENST00000370550.5	+	4	925	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.R162W|HS2ST1_ENST00000370551.4_Missense_Mutation_p.R188W|HS2ST1_ENST00000356813.4_Missense_Mutation_p.R162W	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	188					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		ACCAGGGTTACGGAGACGAAA	0.303																																						uc010osk.1		NA																	0				central_nervous_system(1)	1						c.(562-564)CGG>TGG		heparan sulfate 2-O-sulfotransferase 1 isoform							74.0	80.0	78.0					1																	87558326		2203	4296	6499	SO:0001583	missense	9653					Golgi membrane|integral to membrane		g.chr1:87558326C>T	AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"""Sulfotransferases, membrane-bound"""	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.562C>T	1.37:g.87558326C>T	ENSP00000359581:p.Arg188Trp					HS2ST1_uc001dmc.3_Missense_Mutation_p.R188W|LOC339524_uc001dme.1_Missense_Mutation_p.R149W	p.R188W	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN		all cancers(265;0.00699)|Epithelial(280;0.0261)	4	947	+		Lung NSC(277;0.153)	188			Lumenal (Potential).		D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Missense_Mutation	SNP	ENST00000370550.5	37	c.562C>T	CCDS711.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801175	0.70567	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.81	2.3	0.28687	.	0.000000	0.85682	D	0.000000	T	0.68430	0.3000	L	0.58101	1.795	0.80722	D	1	D;D	0.67145	0.985;0.996	P;P	0.51487	0.671;0.566	T	0.69217	-0.5203	10	0.38643	T	0.18	-14.5773	15.733	0.77819	0.2633:0.7366:0.0:0.0	.	188;162	Q7LGA3;Q7LGA3-2	HS2ST_HUMAN;.	W	188;188;162;162	ENSP00000359582:R188W;ENSP00000359581:R188W;ENSP00000359579:R162W;ENSP00000349268:R162W	ENSP00000349268:R162W	R	+	1	2	HS2ST1	87330914	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.858000	0.48356	0.458000	0.26988	-0.271000	0.10264	CGG		0.303	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	NM_012262		5	29	0	0	0	0	5	29				
VAV3	10451	broad.mit.edu	37	1	108307728	108307728	+	Silent	SNP	C	C	T	rs531544317		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:108307728C>T	ENST00000370056.4	-	9	1165	c.891G>A	c.(889-891)aaG>aaA	p.K297K	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Silent_p.K297K|VAV3_ENST00000371846.4_Silent_p.K232K	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	297	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTTCTTTTGTCTTAGAAATGT	0.338													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15646	0.0		0.0	False		,,,				2504	0.0					uc001dvk.1		NA																	0				ovary(5)|lung(2)|breast(2)	9						c.(889-891)AAG>AAA		vav 3 guanine nucleotide exchange factor isoform							83.0	80.0	81.0					1																	108307728		2203	4300	6503	SO:0001819	synonymous_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108307728C>T	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.891G>A	1.37:g.108307728C>T						VAV3_uc010ouw.1_Silent_p.K297K|VAV3_uc001dvl.1_Silent_p.K121K|VAV3_uc010oux.1_Silent_p.K297K	p.K297K	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	9	945	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	297			DH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	c.891G>A	CCDS785.1	.	.	.	.	.	.	.	.	.	.	C	9.487	1.099745	0.20552	.	.	ENSG00000134215	ENST00000490388	.	.	.	5.64	3.78	0.43462	.	.	.	.	.	T	0.50309	0.1608	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49532	-0.8930	4	.	.	.	.	12.1193	0.53883	0.0:0.8622:0.0:0.1378	.	.	.	.	K	292	.	.	R	-	2	0	VAV3	108109251	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.637000	0.24659	0.746000	0.32786	0.650000	0.86243	AGA		0.338	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		6	41	0	0	0	0	6	41				
HIST2H2AB	317772	broad.mit.edu	37	1	149859412	149859412	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:149859412A>T	ENST00000331128.3	-	1	54	c.55T>A	c.(55-57)Tcg>Acg	p.S19T	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	19						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGCGGGACGAGCGCGACTTG	0.622																																						uc001ete.2		NA																	0				ovary(1)|breast(1)	2						c.(55-57)TCG>ACG		histone cluster 2, H2ab							55.0	62.0	60.0					1																	149859412		2202	4295	6497	SO:0001583	missense	317772				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149859412A>T	AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.55T>A	1.37:g.149859412A>T	ENSP00000332790:p.Ser19Thr					HIST2H2BE_uc001etc.2_5'Flank	p.S19T	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	55	-	Breast(34;0.0124)|all_hematologic(923;0.127)		19						Missense_Mutation	SNP	ENST00000331128.3	37	c.55T>A	CCDS938.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.614841	0.46631	.	.	ENSG00000184270	ENST00000331128	T	0.68025	-0.3	5.27	5.27	0.74061	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.64402	D	0.000001	T	0.73345	0.3575	M	0.91920	3.255	0.47737	D	0.999506	P	0.42456	0.78	P	0.48815	0.591	T	0.80498	-0.1356	10	0.87932	D	0	.	11.8741	0.52537	1.0:0.0:0.0:0.0	.	19	Q8IUE6	H2A2B_HUMAN	T	19	ENSP00000332790:S19T	ENSP00000332790:S19T	S	-	1	0	HIST2H2AB	148126036	1.000000	0.71417	0.955000	0.39395	0.973000	0.67179	5.059000	0.64306	2.119000	0.64992	0.533000	0.62120	TCG		0.622	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		5	90	0	0	0	0	5	90				
FCRL4	83417	broad.mit.edu	37	1	157557209	157557209	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:157557209A>G	ENST00000271532.1	-	5	839	c.704T>C	c.(703-705)gTc>gCc	p.V235A	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	235	Ig-like C2-type 3.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TGACAGGATGACCTCGCCATC	0.532																																						uc001fqw.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(703-705)GTC>GCC		Fc receptor-like 4 precursor							268.0	266.0	267.0					1																	157557209		2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157557209A>G	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.704T>C	1.37:g.157557209A>G	ENSP00000271532:p.Val235Ala					FCRL4_uc010phy.1_RNA	p.V235A	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			5	840	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	235			Ig-like C2-type 3.|Extracellular (Potential).		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.704T>C	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	A	9.234	1.036542	0.19669	.	.	ENSG00000163518	ENST00000271532	T	0.11495	2.77	4.71	2.32	0.28847	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.081830	0.07280	N	0.870534	T	0.02342	0.0072	L	0.35854	1.095	0.09310	N	1	B	0.20052	0.041	B	0.28139	0.086	T	0.48490	-0.9031	10	0.08381	T	0.77	.	6.0624	0.19844	0.7839:0.0:0.2161:0.0	.	235	Q96PJ5	FCRL4_HUMAN	A	235	ENSP00000271532:V235A	ENSP00000271532:V235A	V	-	2	0	FCRL4	155823833	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	0.443000	0.21644	0.365000	0.24400	0.383000	0.25322	GTC		0.532	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		24	289	0	0	0	0	24	289				
TBX19	9095	broad.mit.edu	37	1	168274253	168274253	+	Silent	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:168274253C>A	ENST00000367821.3	+	6	786	c.735C>A	c.(733-735)ggC>ggA	p.G245G		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	245					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TAGTGGGAGGCTGGATCTTTT	0.493																																						uc001gfl.2		NA																	0					0						c.(733-735)GGC>GGA		T-box 19							130.0	122.0	125.0					1																	168274253		2203	4300	6503	SO:0001819	synonymous_variant	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168274253C>A	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.735C>A	1.37:g.168274253C>A						TBX19_uc001gfj.3_Intron|TBX19_uc001gfm.2_Translation_Start_Site	p.G245G	NM_005149	NP_005140	O60806	TBX19_HUMAN			6	786	+	all_hematologic(923;0.215)		245					Q52M53	Silent	SNP	ENST00000367821.3	37	c.735C>A	CCDS1272.1	.	.	.	.	.	.	.	.	.	.	C	9.068	0.996208	0.19043	.	.	ENSG00000143178	ENST00000441464	.	.	.	6.03	2.73	0.32206	.	.	.	.	.	T	0.24122	0.0584	.	.	.	.	.	.	.	.	.	.	.	.	T	0.08106	-1.0738	3	.	.	.	.	6.7912	0.23701	0.1395:0.6521:0.0:0.2084	.	.	.	.	M	78	.	.	L	+	1	2	TBX19	166540877	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	0.727000	0.25999	0.883000	0.36040	-0.136000	0.14681	CTG		0.493	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		16	73	1	0	2.94e-08	3.59e-08	16	73				
KCNT2	343450	broad.mit.edu	37	1	196227581	196227581	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:196227581T>A	ENST00000294725.9	-	26	3869	c.2954A>T	c.(2953-2955)gAc>gTc	p.D985V	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.D919V|KCNT2_ENST00000367433.5_Missense_Mutation_p.D961V|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.D918V			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	985					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTCTTTGGAGTCTTTGGTGTC	0.433																																						uc001gtd.1		NA																	0				ovary(5)|breast(1)|skin(1)	7						c.(2953-2955)GAC>GTC		potassium channel, subfamily T, member 2							225.0	185.0	199.0					1																	196227581		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196227581T>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2954A>T	1.37:g.196227581T>A	ENSP00000294725:p.Asp985Val					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.D918V|KCNT2_uc001gtf.1_Missense_Mutation_p.D961V|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Missense_Mutation_p.D489V	p.D985V	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			26	3014	-			985			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2954A>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.064071	0.55432	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.21543	2.06;2.0;2.41	5.74	5.74	0.90152	.	0.000000	0.56097	D	0.000028	T	0.26991	0.0661	L	0.44542	1.39	0.80722	D	1	B;B;B;B	0.34147	0.257;0.234;0.438;0.151	B;B;B;B	0.40901	0.197;0.343;0.197;0.185	T	0.03394	-1.1041	10	0.72032	D	0.01	-20.2787	16.0286	0.80560	0.0:0.0:0.0:1.0	.	950;961;918;985	Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	V	961;919;985	ENSP00000356403:D961V;ENSP00000356401:D919V;ENSP00000294725:D985V	ENSP00000294725:D985V	D	-	2	0	KCNT2	194494204	1.000000	0.71417	0.917000	0.36280	0.878000	0.50629	4.407000	0.59754	2.188000	0.69820	0.523000	0.50628	GAC		0.433	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		10	78	0	0	0	0	10	78				
CFHR2	3080	broad.mit.edu	37	1	196927141	196927141	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:196927141T>C	ENST00000367415.5	+	4	651	c.551T>C	c.(550-552)cTt>cCt	p.L184P	CFHR2_ENST00000367421.3_Missense_Mutation_p.L184P|CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000476712.2_Missense_Mutation_p.L168P	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	184	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TTGTATCAACTTGAGGGTAAC	0.398																																						uc001gtq.1		NA																	0				skin(2)|ovary(1)	3						c.(550-552)CTT>CCT		H factor (complement)-like 3 precursor							173.0	158.0	163.0					1																	196927141		2203	4300	6503	SO:0001583	missense	3080					extracellular region		g.chr1:196927141T>C	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.551T>C	1.37:g.196927141T>C	ENSP00000356385:p.Leu184Pro					CFHR2_uc001gtr.1_Missense_Mutation_p.L60P	p.L184P	NM_005666	NP_005657	P36980	FHR2_HUMAN			4	628	+			184			Sushi 3.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.551T>C	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	14.44	2.535807	0.45176	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.70164	-0.46;-0.46	4.01	4.01	0.46588	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.27491	N	0.019122	D	0.86045	0.5839	H	0.97707	4.06	0.25548	N	0.98711	D;D	0.63880	0.974;0.993	D;P	0.65987	0.94;0.902	T	0.80223	-0.1471	10	0.87932	D	0	.	10.8814	0.46939	0.0:0.0:0.0:1.0	.	157;184	P36980-2;P36980	.;FHR2_HUMAN	P	184	ENSP00000356391:L184P;ENSP00000356385:L184P	ENSP00000356385:L184P	L	+	2	0	CFHR2	195193764	0.128000	0.22383	0.014000	0.15608	0.013000	0.08279	4.346000	0.59367	1.436000	0.47453	0.421000	0.28195	CTT		0.398	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		3	74	0	0	0	0	3	74				
RPS6KC1	26750	broad.mit.edu	37	1	213277842	213277842	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:213277842A>T	ENST00000366960.3	+	4	459	c.309A>T	c.(307-309)gaA>gaT	p.E103D	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.E91D|RPS6KC1_ENST00000543354.1_5'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	103	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AATGTGCTGAAGACCTGCTAC	0.353																																						uc010ptr.1		NA																	0				lung(4)|ovary(3)|breast(1)	8						c.(307-309)GAA>GAT		ribosomal protein S6 kinase, 52kDa, polypeptide							180.0	172.0	175.0					1																	213277842		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213277842A>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.309A>T	1.37:g.213277842A>T	ENSP00000355927:p.Glu103Asp					RPS6KC1_uc001hkd.2_Missense_Mutation_p.E91D|RPS6KC1_uc010pts.1_Translation_Start_Site|RPS6KC1_uc010ptt.1_Translation_Start_Site|RPS6KC1_uc010ptu.1_Translation_Start_Site|RPS6KC1_uc010ptv.1_Translation_Start_Site|RPS6KC1_uc001hke.2_Translation_Start_Site	p.E103D	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	4	468	+			103			PX.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.309A>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304430	0.81136	.	.	ENSG00000136643	ENST00000366960;ENST00000366959	T;T	0.38887	1.11;1.11	5.53	0.259	0.15583	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.49380	-0.8946	10	0.27785	T	0.31	-15.9108	8.9936	0.36039	0.669:0.0:0.331:0.0	.	103;91	Q96S38;B1APS8	KS6C1_HUMAN;.	D	103;91	ENSP00000355927:E103D;ENSP00000355926:E91D	ENSP00000355926:E91D	E	+	3	2	RPS6KC1	211344465	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	2.069000	0.41481	-0.134000	0.11516	0.533000	0.62120	GAA		0.353	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		4	59	0	0	0	0	4	59				
MIA3	375056	broad.mit.edu	37	1	222802470	222802470	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:222802470T>A	ENST00000344922.5	+	4	1933	c.1908T>A	c.(1906-1908)gaT>gaA	p.D636E	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.D636E|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	636					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CCTCTCCAGATGAGATTGATT	0.468																																						uc001hnl.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1906-1908)GAT>GAA		melanoma inhibitory activity family, member 3							109.0	107.0	108.0					1																	222802470		1852	4108	5960	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222802470T>A		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1908T>A	1.37:g.222802470T>A	ENSP00000340900:p.Asp636Glu					MIA3_uc009xea.1_Missense_Mutation_p.D472E	p.D636E	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	1917	+			636			Extracellular (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.1908T>A	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.19|13.19	2.162763|2.162763	0.38217|0.38217	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.05580|.	3.42;3.42|.	4.64|4.64	0.475|0.475	0.16774|0.16774	.|.	.|.	.|.	.|.	.|.	T|.	0.28300|.	0.0699|.	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B;B|.	0.33857|.	0.093;0.429|.	B;B|.	0.26202|.	0.043;0.067|.	T|.	0.27088|.	-1.0084|.	9|.	0.09590|.	T|.	0.72|.	.|.	1.2823|1.2823	0.02043|0.02043	0.1343:0.1598:0.2092:0.4967|0.1343:0.1598:0.2092:0.4967	.|.	636;636|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	E|R	636|219	ENSP00000340900:D636E;ENSP00000340587:D636E|.	ENSP00000325973:D636E|.	D|X	+|+	3|1	2|0	MIA3|MIA3	220869093|220869093	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.633000|0.633000	0.38033|0.38033	0.783000|0.783000	0.26802|0.26802	-0.130000|-0.130000	0.11599|0.11599	0.254000|0.254000	0.18369|0.18369	GAT|TGA		0.468	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		35	158	0	0	0	0	35	158				
NUP133	55746	broad.mit.edu	37	1	229637829	229637829	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:229637829T>C	ENST00000261396.3	-	3	413	c.322A>G	c.(322-324)Aac>Gac	p.N108D	NUP133_ENST00000366678.3_Missense_Mutation_p.N108D|NUP133_ENST00000537506.1_Missense_Mutation_p.N92D	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	108					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TCATCTATGTTAATGGTCAGC	0.363																																						uc001htn.2		NA																	0				breast(4)|skin(2)|ovary(1)	7						c.(322-324)AAC>GAC		nucleoporin 133kDa							140.0	137.0	138.0					1																	229637829		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229637829T>C		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.322A>G	1.37:g.229637829T>C	ENSP00000261396:p.Asn108Asp						p.N108D	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			3	414	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	108					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.322A>G	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	T	6.766	0.510161	0.12883	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506;ENST00000366678	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.94	0.329	0.15924	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.639999	0.17896	N	0.158376	T	0.20618	0.0496	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.22417	-1.0217	10	0.12103	T	0.63	-8.2128	5.4547	0.16584	0.3079:0.0:0.5649:0.1272	.	108	Q8WUM0	NU133_HUMAN	D	108;108;108;92;108	ENSP00000261396:N108D;ENSP00000355640:N108D;ENSP00000443496:N92D;ENSP00000355639:N108D	ENSP00000261396:N108D	N	-	1	0	NUP133	227704452	0.605000	0.26941	0.001000	0.08648	0.049000	0.14656	1.075000	0.30716	0.032000	0.15435	-0.458000	0.05436	AAC		0.363	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		8	113	0	0	0	0	8	113				
LYST	1130	broad.mit.edu	37	1	235827826	235827826	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:235827826T>C	ENST00000389794.3	-	51	11308	c.11134A>G	c.(11134-11136)Aac>Gac	p.N3712D	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.N3712D			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3712					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCAGGCTGGTTGGAGAAAGCC	0.468																																						uc001hxj.2		NA																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(11134-11136)AAC>GAC		lysosomal trafficking regulator							95.0	86.0	89.0					1																	235827826		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235827826T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.11134A>G	1.37:g.235827826T>C	ENSP00000374444:p.Asn3712Asp					LYST_uc001hxi.2_Missense_Mutation_p.N936D	p.N3712D	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		51	11309	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3712			WD 6.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.11134A>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	32	5.137663	0.94517	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.28895	1.59;1.59	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.039359	0.85682	D	0.000000	T	0.47154	0.1430	L	0.42245	1.32	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.30851	-0.9964	10	0.40728	T	0.16	.	16.2965	0.82776	0.0:0.0:0.0:1.0	.	3712	Q99698	LYST_HUMAN	D	3712	ENSP00000374444:N3712D;ENSP00000374443:N3712D	ENSP00000374443:N3712D	N	-	1	0	LYST	233894449	1.000000	0.71417	0.997000	0.53966	0.902000	0.53008	8.040000	0.89188	2.243000	0.73865	0.528000	0.53228	AAC		0.468	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			4	58	0	0	0	0	4	58				
OR2G3	81469	broad.mit.edu	37	1	247769355	247769355	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:247769355C>T	ENST00000320002.2	+	1	500	c.468C>T	c.(466-468)tcC>tcT	p.S156S	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGCTAGTTCCCTAATCCATG	0.483																																						uc010pyz.1		NA																	0				central_nervous_system(1)	1						c.(466-468)TCC>TCT		olfactory receptor, family 2, subfamily G,							159.0	149.0	153.0					1																	247769355		2203	4300	6503	SO:0001819	synonymous_variant	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769355C>T	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.468C>T	1.37:g.247769355C>T							p.S156S	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	468	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		156			Helical; Name=4; (Potential).		B2RN64|Q5JQT1|Q6IF45	Silent	SNP	ENST00000320002.2	37	c.468C>T	CCDS31093.1																																																																																				0.483	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			4	139	0	0	0	0	4	139				
CELF2	10659	broad.mit.edu	37	10	11047387	11047387	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr10:11047387G>A	ENST00000379261.4	+	1	129	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	CELF2_ENST00000416382.2_Missense_Mutation_p.E13K	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	13	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TATGAGAAATGAAGAGCTGCT	0.398																																						uc001iki.3		NA																	0					0						c.(37-39)GAA>AAA		CUG triplet repeat, RNA binding protein 2							418.0	401.0	406.0					10																	11047387		1955	4148	6103	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11047387G>A	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.37G>A	10.37:g.11047387G>A	ENSP00000368563:p.Glu13Lys					CELF2_uc010qbi.1_5'UTR|CELF2_uc010qbj.1_Missense_Mutation_p.E13K	p.E13K	NM_001025077	NP_001020248	O95319	CELF2_HUMAN			1	129	+			13			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.37G>A	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	G	6.079	0.382852	0.11524	.	.	ENSG00000048740	ENST00000379261;ENST00000416382	T;T	0.80033	-1.33;-1.33	5.26	5.26	0.73747	.	.	.	.	.	T	0.71600	0.3359	N	0.03608	-0.345	0.80722	D	1	P;P	0.40332	0.713;0.713	P;P	0.51742	0.678;0.678	T	0.68096	-0.5499	9	0.07030	T	0.85	.	19.2148	0.93772	0.0:0.0:1.0:0.0	.	13;13	B4DS31;O95319	.;CELF2_HUMAN	K	13	ENSP00000368563:E13K;ENSP00000406451:E13K	ENSP00000368563:E13K	E	+	1	0	CELF2	11087393	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.502000	0.81614	2.600000	0.87896	0.655000	0.94253	GAA		0.398	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				41	147	0	0	0	0	41	147				
PTER	9317	broad.mit.edu	37	10	16526619	16526619	+	Missense_Mutation	SNP	C	C	G	rs368682623		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr10:16526619C>G	ENST00000378000.1	+	3	482	c.236C>G	c.(235-237)gCc>gGc	p.A79G	PTER_ENST00000298942.3_Missense_Mutation_p.A79G|PTER_ENST00000423462.2_Missense_Mutation_p.A79G|PTER_ENST00000535784.2_Missense_Mutation_p.A79G	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	79					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GAGACAGAAGCCATAAAGGAA	0.393																																					Ovarian(2;46 150 15648 38137 47908)	uc001iog.1		NA																	0				ovary(2)	2						c.(235-237)GCC>GGC		phosphotriesterase related							62.0	70.0	67.0					10																	16526619		2203	4300	6503	SO:0001583	missense	9317				catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	g.chr10:16526619C>G	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.236C>G	10.37:g.16526619C>G	ENSP00000367239:p.Ala79Gly					PTER_uc001ioh.1_Missense_Mutation_p.A79G|PTER_uc001ioi.1_Missense_Mutation_p.A79G|PTER_uc009xjp.1_Missense_Mutation_p.A79G	p.A79G	NM_030664	NP_109589	Q96BW5	PTER_HUMAN			3	443	+			79					B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	ENST00000378000.1	37	c.236C>G	CCDS7111.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712817	0.48517	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.87	2.93	0.34026	.	0.045090	0.85682	D	0.000000	T	0.56688	0.2002	M	0.75777	2.31	0.80722	D	1	D;P	0.67145	0.996;0.804	D;P	0.68483	0.958;0.665	T	0.53450	-0.8437	10	0.30854	T	0.27	-11.792	7.9068	0.29767	0.1236:0.6934:0.1188:0.0642	.	79;79	Q96BW5-2;Q96BW5	.;PTER_HUMAN	G	79	ENSP00000439485:A79G;ENSP00000389535:A79G;ENSP00000367239:A79G;ENSP00000298942:A79G	ENSP00000298942:A79G	A	+	2	0	PTER	16566625	0.999000	0.42202	0.025000	0.17156	0.165000	0.22458	4.076000	0.57591	0.832000	0.34804	0.655000	0.94253	GCC		0.393	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664		4	74	0	0	0	0	4	74				
ANKRD30A	91074	broad.mit.edu	37	10	37508758	37508758	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr10:37508758T>A	ENST00000602533.1	+	34	4049	c.3950T>A	c.(3949-3951)aTa>aAa	p.I1317K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I1317K|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.I1436K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1373					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AATGAGGAGATATTTAATTAC	0.274																																						uc001iza.1		NA																	0				ovary(7)|breast(1)|skin(1)	9						c.(3949-3951)ATA>AAA		ankyrin repeat domain 30A							20.0	19.0	19.0					10																	37508758		1805	4072	5877	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508758T>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3950T>A	10.37:g.37508758T>A	ENSP00000473551:p.Ile1317Lys						p.I1317K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	4049	+			1373					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3950T>A		.	.	.	.	.	.	.	.	.	.	t	10.91	1.483499	0.26598	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.15017	2.46;2.46	2.95	2.95	0.34219	.	.	.	.	.	T	0.10766	0.0263	N	0.24115	0.695	0.09310	N	1	P	0.49185	0.92	B	0.37888	0.26	T	0.13845	-1.0494	9	0.87932	D	0	.	9.0203	0.36195	0.0:0.0:0.0:1.0	.	1373	Q9BXX3	AN30A_HUMAN	K	1317;1436	ENSP00000354432:I1317K;ENSP00000363792:I1436K	ENSP00000354432:I1317K	I	+	2	0	ANKRD30A	37548764	0.997000	0.39634	0.008000	0.14137	0.001000	0.01503	4.641000	0.61375	1.205000	0.43262	0.386000	0.25728	ATA		0.274	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		4	2	0	0	0	0	4	2				
RHOBTB1	9886	broad.mit.edu	37	10	62652607	62652607	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr10:62652607T>C	ENST00000337910.5	-	5	780	c.443A>G	c.(442-444)gAc>gGc	p.D148G	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D148G	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	148	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AGCTTCCAGGTCGGCATAGCG	0.498																																						uc001jli.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(442-444)GAC>GGC		Rho-related BTB domain containing 1							105.0	100.0	102.0					10																	62652607		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62652607T>C	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.443A>G	10.37:g.62652607T>C	ENSP00000338671:p.Asp148Gly					RHOBTB1_uc001jlh.2_Missense_Mutation_p.D148G|RHOBTB1_uc001jlj.2_Missense_Mutation_p.D148G|RHOBTB1_uc001jlk.2_Missense_Mutation_p.D148G|RHOBTB1_uc009xpe.1_Intron	p.D148G	NM_014836	NP_055651	O94844	RHBT1_HUMAN			6	881	-	Prostate(12;0.0112)		148			Rho-like.			Missense_Mutation	SNP	ENST00000337910.5	37	c.443A>G	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.201067	0.79015	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.23147	1.92;1.92	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	L	0.31294	0.92	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.18555	-1.0333	10	0.52906	T	0.07	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	148	O94844	RHBT1_HUMAN	G	148	ENSP00000350595:D148G;ENSP00000338671:D148G	ENSP00000338671:D148G	D	-	2	0	RHOBTB1	62322613	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.036000	0.88901	2.371000	0.80710	0.533000	0.62120	GAC		0.498	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			12	47	0	0	0	0	12	47				
FGFR2	2263	broad.mit.edu	37	10	123310907	123310907	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr10:123310907G>T	ENST00000358487.5	-	5	793	c.521C>A	c.(520-522)aCt>aAt	p.T174N	FGFR2_ENST00000359354.2_Missense_Mutation_p.T174N|FGFR2_ENST00000357555.5_Missense_Mutation_p.T85N|FGFR2_ENST00000369060.4_Missense_Mutation_p.T174N|FGFR2_ENST00000457416.2_Missense_Mutation_p.T174N|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000360144.3_Missense_Mutation_p.T85N|FGFR2_ENST00000356226.4_Missense_Mutation_p.T59N|FGFR2_ENST00000369061.4_Missense_Mutation_p.T174N|FGFR2_ENST00000369059.1_Missense_Mutation_p.T59N|FGFR2_ENST00000369056.1_Missense_Mutation_p.T174N|FGFR2_ENST00000346997.2_Missense_Mutation_p.T174N|FGFR2_ENST00000351936.6_Missense_Mutation_p.T174N	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	174	Heparin-binding.|Ig-like C2-type 2.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	AAACTTGACAGTGTTGGCCGC	0.517		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													uc010qtk.1		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	Crouzon|Pfeiffer|and Apert syndromes	E			gastric. NSCLC|endometrial		0				endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96						c.(520-522)ACT>AAT		fibroblast growth factor receptor 2 isoform 1	Palifermin(DB00039)						113.0	99.0	104.0					10																	123310907		2203	4300	6503	SO:0001583	missense	2263	Apert_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123310907G>T	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.521C>A	10.37:g.123310907G>T	ENSP00000351276:p.Thr174Asn					FGFR2_uc010qtg.1_Missense_Mutation_p.T174N|FGFR2_uc010qth.1_Missense_Mutation_p.T59N|FGFR2_uc010qti.1_Missense_Mutation_p.T85N|FGFR2_uc010qtj.1_Missense_Mutation_p.T174N|FGFR2_uc010qtl.1_Missense_Mutation_p.T174N|FGFR2_uc010qtm.1_Missense_Mutation_p.T59N|FGFR2_uc001lfl.3_Missense_Mutation_p.T174N|FGFR2_uc001lfm.2_Missense_Mutation_p.T85N|FGFR2_uc001lfn.3_RNA|FGFR2_uc010qtn.1_Missense_Mutation_p.T193N|FGFR2_uc010qto.1_Missense_Mutation_p.T78N|FGFR2_uc001lfo.1_Missense_Mutation_p.T193N|FGFR2_uc010qtp.1_Missense_Mutation_p.T193N|FGFR2_uc010qtq.1_Missense_Mutation_p.T193N	p.T174N	NM_000141	NP_000132	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	5	1168	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	174			Ig-like C2-type 2.|Heparin-binding.|Extracellular (Potential).		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.521C>A	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859720	0.91433	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553;ENST00000359354	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	4.89	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79058	0.4382	L	0.56280	1.765	0.80722	D	1	P;P;D;D;P;D;D;D;D;D;D;D	0.76494	0.784;0.651;0.997;0.999;0.83;0.965;0.964;0.982;0.997;0.995;0.987;0.998	P;P;D;D;P;D;P;D;D;D;P;D	0.81914	0.716;0.875;0.982;0.991;0.892;0.927;0.607;0.97;0.995;0.969;0.894;0.992	T	0.80984	-0.1138	10	0.62326	D	0.03	.	18.0697	0.89402	0.0:0.0:1.0:0.0	.	193;193;59;174;193;174;85;59;174;193;85;174	D3DRD9;D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;P21802;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;FGFR2_HUMAN;.;.;.	N	85;174;174;174;59;174;59;174;174;174;85;174;174;85;174	ENSP00000350166:T85N;ENSP00000358057:T174N;ENSP00000351276:T174N;ENSP00000348559:T59N;ENSP00000358056:T174N;ENSP00000358055:T59N;ENSP00000263451:T174N;ENSP00000410294:T174N;ENSP00000309878:T174N;ENSP00000353262:T85N;ENSP00000358052:T174N;ENSP00000358054:T174N;ENSP00000337665:T85N;ENSP00000352309:T174N	ENSP00000337665:T85N	T	-	2	0	FGFR2	123300897	1.000000	0.71417	0.987000	0.45799	0.921000	0.55340	9.784000	0.99039	2.255000	0.74692	0.609000	0.83330	ACT		0.517	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		15	81	1	0	1.15e-07	1.4e-07	15	81				
OR51B2	79345	broad.mit.edu	37	11	5344901	5344901	+	Silent	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:5344901A>G	ENST00000328813.2	-	1	681	c.627T>C	c.(625-627)tgT>tgC	p.C209C	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	209			C -> S (in dbSNP:rs7937237). {ECO:0000269|PubMed:10220430, ECO:0000269|PubMed:12213199}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATGATCAGACAGTCTAGGA	0.403																																						uc001mao.1		NA																	0				ovary(2)|skin(1)	3						c.(625-627)TGT>TGC		olfactory receptor, family 51, subfamily B,							67.0	67.0	67.0					11																	5344901		2201	4297	6498	SO:0001819	synonymous_variant	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5344901A>G	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.627T>C	11.37:g.5344901A>G						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.C209C	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	682	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	209			Helical; Name=5; (Potential).		Q96RD4	Silent	SNP	ENST00000328813.2	37	c.627T>C	CCDS31377.1																																																																																				0.403	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		5	24	0	0	0	0	5	24				
OR10A2	341276	broad.mit.edu	37	11	6891056	6891056	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:6891056T>G	ENST00000307322.4	+	1	133	c.71T>G	c.(70-72)gTc>gGc	p.V24G		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATCTACCTGGTCACCCTGATG	0.448																																						uc001meu.1		NA																	0				breast(1)	1						c.(70-72)GTC>GGC		olfactory receptor, family 10, subfamily A,							244.0	233.0	237.0					11																	6891056		2201	4296	6497	SO:0001583	missense	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891056T>G	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.71T>G	11.37:g.6891056T>G	ENSP00000303862:p.Val24Gly						p.V24G	NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	71	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	24			Helical; Name=1; (Potential).		B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	37	c.71T>G	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	t	6.414	0.444554	0.12164	.	.	ENSG00000170790	ENST00000307322	T	0.00601	6.29	4.37	2.01	0.26516	.	0.445689	0.19042	N	0.124261	T	0.00815	0.0027	L	0.54863	1.705	0.20489	N	0.999895	B	0.30104	0.268	B	0.36922	0.236	T	0.43245	-0.9403	10	0.59425	D	0.04	.	6.2476	0.20827	0.0:0.3033:0.0:0.6967	.	24	Q9H208	O10A2_HUMAN	G	24	ENSP00000303862:V24G	ENSP00000303862:V24G	V	+	2	0	OR10A2	6847632	0.005000	0.15991	0.864000	0.33941	0.170000	0.22686	1.623000	0.37008	0.311000	0.23014	0.529000	0.55759	GTC		0.448	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		5	251	0	0	0	0	5	251				
OR8K5	219453	broad.mit.edu	37	11	55927529	55927529	+	Nonsense_Mutation	SNP	G	G	A	rs147577134		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:55927529G>A	ENST00000313447.1	-	1	264	c.265C>T	c.(265-267)Cga>Tga	p.R89*		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R89R(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATAGTATTTCGATCCACAACA	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		22003	0.0		0.001	False		,,,				2504	0.0					uc010rja.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(265-267)CGA>TGA		olfactory receptor, family 8, subfamily K,		G	stop/ARG	0,4402		0,0,2201	99.0	98.0	99.0		265	1.5	0.3	11	dbSNP_134	99	1,8591	1.2+/-3.3	0,1,4295	yes	stop-gained	OR8K5	NM_001004058.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		89/308	55927529	1,12993	2201	4296	6497	SO:0001587	stop_gained	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927529G>A	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.265C>T	11.37:g.55927529G>A	ENSP00000323853:p.Arg89*						p.R89*	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	265	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	89			Extracellular (Potential).		Q6IFB5	Nonsense_Mutation	SNP	ENST00000313447.1	37	c.265C>T	CCDS31521.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.03	1.520237	0.27211	0.0	1.16E-4	ENSG00000181752	ENST00000313447	.	.	.	3.88	1.55	0.23275	.	1.167630	0.06219	N	0.686504	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	5.9628	0.19308	0.0:0.2834:0.3342:0.3824	.	.	.	.	X	89	.	ENSP00000323853:R89X	R	-	1	2	OR8K5	55684105	0.000000	0.05858	0.330000	0.25442	0.479000	0.33129	-0.825000	0.04433	0.837000	0.34925	0.567000	0.79289	CGA		0.393	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		13	65	0	0	0	0	13	65				
CDC42BPG	55561	broad.mit.edu	37	11	64604277	64604277	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:64604277G>C	ENST00000342711.5	-	11	1317	c.1318C>G	c.(1318-1320)Ccc>Gcc	p.P440A		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						TGGTCTGTGGGGGCGTGCAGG	0.701																																						uc001obs.3		NA																	0				lung(3)|central_nervous_system(1)	4						c.(1318-1320)CCC>GCC		CDC42 binding protein kinase gamma (DMPK-like)							32.0	26.0	28.0					11																	64604277		2194	4293	6487	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64604277G>C	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1318C>G	11.37:g.64604277G>C	ENSP00000345133:p.Pro440Ala						p.P440A	NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN			11	1318	-			440			Potential.			Missense_Mutation	SNP	ENST00000342711.5	37	c.1318C>G	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	2.295	-0.361539	0.05103	.	.	ENSG00000171219	ENST00000342711	T	0.20463	2.07	4.61	-4.35	0.03656	.	0.873471	0.09798	N	0.754422	T	0.09598	0.0236	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43475	-0.9389	10	0.02654	T	1	.	0.9322	0.01338	0.3248:0.1138:0.3302:0.2312	.	440	Q6DT37	MRCKG_HUMAN	A	440	ENSP00000345133:P440A	ENSP00000345133:P440A	P	-	1	0	CDC42BPG	64360853	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.410000	0.07151	-0.423000	0.07394	-1.133000	0.01973	CCC		0.701	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		7	9	0	0	0	0	7	9				
SUV420H1	51111	broad.mit.edu	37	11	67926242	67926242	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:67926242C>A	ENST00000304363.4	-	11	1924	c.1571G>T	c.(1570-1572)gGt>gTt	p.G524V		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	524					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CGAATGAGCACCTCTCACAGG	0.552																																						uc001onm.1		NA																	0				ovary(2)|kidney(1)	3						c.(1570-1572)GGT>GTT		suppressor of variegation 4-20 homolog 1 isoform							85.0	89.0	88.0					11																	67926242		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67926242C>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1571G>T	11.37:g.67926242C>A	ENSP00000305899:p.Gly524Val					SUV420H1_uc009yse.1_Missense_Mutation_p.G110V|SUV420H1_uc001onn.1_Missense_Mutation_p.G352V|SUV420H1_uc009ysf.2_Missense_Mutation_p.G284V	p.G524V	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	1827	-			524					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.1571G>T	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507006	0.85282	.	.	ENSG00000110066	ENST00000304363	T	0.48522	0.81	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.60470	0.2271	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63166	-0.6698	10	0.66056	D	0.02	-19.1392	18.63	0.91357	0.0:1.0:0.0:0.0	.	524	Q4FZB7	SV421_HUMAN	V	524	ENSP00000305899:G524V	ENSP00000305899:G524V	G	-	2	0	SUV420H1	67682818	0.998000	0.40836	0.762000	0.31397	0.647000	0.38526	4.355000	0.59424	2.639000	0.89480	0.491000	0.48974	GGT		0.552	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		4	129	1	0	1.24e-05	1.46e-05	4	129				
LRRC32	2615	broad.mit.edu	37	11	76371159	76371159	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:76371159A>T	ENST00000407242.2	-	3	1720	c.1478T>A	c.(1477-1479)tTg>tAg	p.L493*	LRRC32_ENST00000404995.1_Nonsense_Mutation_p.L493*|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Nonsense_Mutation_p.L493*|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	493					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGGACCTCCAAGGAGGCCTC	0.652																																						uc001oxq.3		NA																	0					0						c.(1477-1479)TTG>TAG		leucine rich repeat containing 32 precursor							25.0	26.0	26.0					11																	76371159		2200	4292	6492	SO:0001587	stop_gained	2615					integral to plasma membrane		g.chr11:76371159A>T	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1478T>A	11.37:g.76371159A>T	ENSP00000384126:p.Leu493*					LRRC32_uc001oxr.3_Nonsense_Mutation_p.L493*|LRRC32_uc010rsf.1_Intron	p.L493*	NM_005512	NP_005503	Q14392	LRC32_HUMAN			3	1721	-			493			Extracellular (Potential).|LRR 18.		Q86V06	Nonsense_Mutation	SNP	ENST00000407242.2	37	c.1478T>A	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	A	37	6.198694	0.97371	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	.	.	.	4.51	4.51	0.55191	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.981	0.64304	1.0:0.0:0.0:0.0	.	.	.	.	X	493	.	ENSP00000260061:L493X	L	-	2	0	LRRC32	76048807	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	8.475000	0.90417	1.895000	0.54865	0.402000	0.26972	TTG		0.652	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		7	31	0	0	0	0	7	31				
GRIA4	2893	broad.mit.edu	37	11	105623796	105623796	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:105623796T>A	ENST00000530497.1	+	3	337	c.337T>A	c.(337-339)Tta>Ata	p.L113I	GRIA4_ENST00000393127.2_Missense_Mutation_p.L113I|GRIA4_ENST00000525187.1_Missense_Mutation_p.L113I|GRIA4_ENST00000428631.2_Missense_Mutation_p.L113I|GRIA4_ENST00000393125.2_Missense_Mutation_p.L113I|GRIA4_ENST00000282499.5_Missense_Mutation_p.L113I			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	113					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CTGCAGCGCCTTACATATCTC	0.463																																						uc001pix.2		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(337-339)TTA>ATA		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						168.0	139.0	149.0					11																	105623796		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105623796T>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.337T>A	11.37:g.105623796T>A	ENSP00000435775:p.Leu113Ile					GRIA4_uc001piu.1_Missense_Mutation_p.L113I|GRIA4_uc001piw.2_Missense_Mutation_p.L113I|GRIA4_uc001piv.2_Missense_Mutation_p.L113I|GRIA4_uc009yxk.1_Missense_Mutation_p.L113I	p.L113I	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	4	783	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	113			Extracellular (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.337T>A	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212149	0.79240	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.51	1.94	0.25998	Extracellular ligand-binding receptor (1);	0.000000	0.50627	D	0.000119	D	0.88658	0.6496	M	0.74881	2.28	0.58432	D	0.999994	D;D;D;D	0.89917	0.97;0.998;0.998;1.0	D;D;D;D	0.91635	0.98;0.998;0.999;0.999	D	0.86443	0.1768	10	0.72032	D	0.01	.	8.8058	0.34936	0.0:0.2192:0.0:0.7808	.	113;113;143;113	P48058;G3V164;Q59GL7;Q86XE8	GRIA4_HUMAN;.;.;.	I	113	ENSP00000376833:L113I;ENSP00000282499:L113I;ENSP00000376835:L113I;ENSP00000415551:L113I;ENSP00000432443:L113I;ENSP00000435775:L113I;ENSP00000432180:L113I	ENSP00000282499:L113I	L	+	1	2	GRIA4	105129006	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.541000	0.45735	0.086000	0.17137	0.533000	0.62120	TTA		0.463	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			18	72	0	0	0	0	18	72				
TMPRSS13	84000	broad.mit.edu	37	11	117789510	117789510	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:117789510G>C	ENST00000430170.2	-	2	152	c.65C>G	c.(64-66)gCc>gGc	p.A22G	TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A22G|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.A22G|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A22G|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A22G	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	22	13 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		AGATGCCTGGGCTGGAGATGC	0.627																																						uc001prs.1		NA																	0				pancreas(1)	1						c.(64-66)GCC>GGC		transmembrane protease, serine 13							45.0	50.0	49.0					11																	117789510		1965	4152	6117	SO:0001583	missense	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117789510G>C	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.65C>G	11.37:g.117789510G>C	ENSP00000387702:p.Ala22Gly					TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Missense_Mutation_p.A22G	p.A22G	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	2	158	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	22			4 X 5 AA repeats of T-P-P-G-R.|1-2.|12 X 5 AA repeats of A-S-P-A-[GLQR].|Cytoplasmic (Potential).|Ala-rich.		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	c.65C>G	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519550	0.27211	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	D;D;D;D;D	0.88664	-2.4;-2.41;-2.4;-2.39;-2.3	1.82	-2.28	0.06826	.	.	.	.	.	T	0.70133	0.3189	N	0.03608	-0.345	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.15484	0.004;0.013	T	0.56655	-0.7943	9	0.27082	T	0.32	.	5.0419	0.14463	0.1495:0.4043:0.4462:0.0	.	22;22	Q9BYE2-4;E9PRA0	.;.	G	22	ENSP00000435813:A22G;ENSP00000434279:A22G;ENSP00000387702:A22G;ENSP00000394114:A22G;ENSP00000436502:A22G	ENSP00000337113:A22G	A	-	2	0	TMPRSS13	117294720	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	0.395000	0.20850	-0.565000	0.06061	0.478000	0.44815	GCC		0.627	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		9	52	0	0	0	0	9	52				
KMT2A	4297	broad.mit.edu	37	11	118377362	118377362	+	Splice_Site	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:118377362G>T	ENST00000389506.5	+	27	10745		c.e27+1		KMT2A_ENST00000534358.1_Splice_Site|KMT2A_ENST00000354520.4_Splice_Site			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A						anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAGGCACAGGGTGAGAGATCC	0.483																																						uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.e27+1		myeloid/lymphoid or mixed-lineage leukemia							72.0	71.0	72.0					11																	118377362		2200	4295	6495	SO:0001630	splice_region_variant	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118377362G>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10745+1G>T	11.37:g.118377362G>T						MLL_uc001ptb.2_Splice_Site_p.G3585_splice	p.G3582_splice	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	10768	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)						E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Splice_Site	SNP	ENST00000389506.5	37	c.10745_splice	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953345	0.73902	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1663	0.98152	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLL	117882572	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.371000	0.90123	2.773000	0.95371	0.585000	0.79938	.		0.483	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	Intron	6	78	1	0	0.00116845	0.00129929	6	78				
ROBO4	54538	broad.mit.edu	37	11	124763789	124763789	+	Missense_Mutation	SNP	G	G	A	rs374471211		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:124763789G>A	ENST00000306534.3	-	9	1956	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C	ROBO4_ENST00000526899.1_5'Flank|ROBO4_ENST00000533054.1_Missense_Mutation_p.R346C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	491					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R491C(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CGGCGCCGGCGGTGGATACAC	0.647																																						uc001qbg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1471-1473)CGC>TGC		roundabout homolog 4, magic roundabout		G	CYS/ARG	1,4399		0,1,2199	19.0	22.0	21.0		1471	3.2	0.6	11		21	1,8595		0,1,4297	no	missense	ROBO4	NM_019055.5	180	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	491/1008	124763789	2,12994	2200	4298	6498	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124763789G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1471C>T	11.37:g.124763789G>A	ENSP00000304945:p.Arg491Cys					ROBO4_uc010sas.1_Missense_Mutation_p.R346C|ROBO4_uc001qbh.2_Missense_Mutation_p.R381C|ROBO4_uc001qbi.2_Missense_Mutation_p.R49C|ROBO4_uc010sat.1_Missense_Mutation_p.R49C	p.R491C	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	9	1611	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	491					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.1471C>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910782	0.72983	2.27E-4	1.16E-4	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.68181	-0.31;0.08	5.31	3.16	0.36331	.	0.000000	0.33712	N	0.004622	T	0.70911	0.3278	L	0.56769	1.78	0.42356	D	0.992396	D;D;D	0.89917	0.994;0.999;1.0	P;P;P	0.59703	0.653;0.862;0.828	T	0.68823	-0.5307	10	0.54805	T	0.06	.	6.2249	0.20701	0.1046:0.0:0.7132:0.1822	.	491;381;491	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	C	491;381;346	ENSP00000304945:R491C;ENSP00000437129:R346C	ENSP00000304945:R491C	R	-	1	0	ROBO4	124268999	1.000000	0.71417	0.621000	0.29145	0.996000	0.88848	0.711000	0.25764	0.438000	0.26450	0.655000	0.94253	CGC		0.647	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		4	17	0	0	0	0	4	17				
NCAPD3	23310	broad.mit.edu	37	11	134027943	134027943	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:134027943T>C	ENST00000534548.2	-	31	4118	c.4054A>G	c.(4054-4056)Att>Gtt	p.I1352V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1352					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGGATTGCAATGGTGCTCAGG	0.552																																						uc001qhd.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5						c.(4054-4056)ATT>GTT		non-SMC condensin II complex, subunit D3							116.0	116.0	116.0					11																	134027943		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134027943T>C	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.4054A>G	11.37:g.134027943T>C	ENSP00000433681:p.Ile1352Val					NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.I302V	p.I1352V	NM_015261	NP_056076	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	31	4660	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1352					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.4054A>G	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	T	9.500	1.103076	0.20632	.	.	ENSG00000151503	ENST00000534548	T	0.27402	1.67	5.86	2.07	0.26955	.	0.449269	0.24873	N	0.034919	T	0.23133	0.0559	L	0.57536	1.79	0.80722	D	1	B;B	0.32693	0.38;0.214	B;B	0.27715	0.082;0.082	T	0.08006	-1.0743	10	0.66056	D	0.02	-7.493	3.3369	0.07105	0.1234:0.0779:0.3833:0.4154	.	1352;412	P42695;Q96FA6	CNDD3_HUMAN;.	V	1352	ENSP00000433681:I1352V	ENSP00000433681:I1352V	I	-	1	0	NCAPD3	133533153	0.811000	0.29063	0.716000	0.30569	0.154000	0.21943	0.416000	0.21198	0.472000	0.27344	0.533000	0.62120	ATT		0.552	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		38	137	0	0	0	0	38	137				
C12orf4	57102	broad.mit.edu	37	12	4599038	4599038	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:4599038G>C	ENST00000261250.3	-	14	1681	c.1594C>G	c.(1594-1596)Ctt>Gtt	p.L532V	C12orf4_ENST00000545746.1_Missense_Mutation_p.L532V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	532										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATGTTACTAAGTTGATAAAAC	0.313																																						uc001qms.2		NA																	0					0						c.(1594-1596)CTT>GTT		hypothetical protein LOC57102							143.0	135.0	138.0					12																	4599038		2203	4300	6503	SO:0001583	missense	57102							g.chr12:4599038G>C	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.1594C>G	12.37:g.4599038G>C	ENSP00000261250:p.Leu532Val					C12orf4_uc001qmt.2_Missense_Mutation_p.L532V	p.L532V	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	14	1682	-			532					D3DUQ8|Q6MZH5	Missense_Mutation	SNP	ENST00000261250.3	37	c.1594C>G	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870335	0.72065	.	.	ENSG00000047621	ENST00000261250;ENST00000545746	.	.	.	5.5	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.76535	0.4001	M	0.70842	2.15	0.80722	D	1	D	0.67145	0.996	D	0.69654	0.965	T	0.79342	-0.1843	9	0.72032	D	0.01	.	14.8991	0.70664	0.082:0.0:0.918:0.0	.	532	Q9NQ89	CL004_HUMAN	V	532	.	ENSP00000261250:L532V	L	-	1	0	C12orf4	4469299	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	4.628000	0.61282	2.568000	0.86640	0.460000	0.39030	CTT		0.313	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374		30	35	0	0	0	0	30	35				
CD9	928	broad.mit.edu	37	12	6342628	6342628	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:6342628C>G	ENST00000382518.1	+	5	760	c.324C>G	c.(322-324)atC>atG	p.I108M	CD9_ENST00000009180.4_Missense_Mutation_p.I108M|Y_RNA_ENST00000365448.1_RNA|CD9_ENST00000382515.2_Missense_Mutation_p.I39M|CD9_ENST00000481267.1_3'UTR			P21926	CD9_HUMAN	CD9 molecule	108					blood coagulation (GO:0007596)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|oligodendrocyte development (GO:0014003)|paranodal junction assembly (GO:0030913)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|response to water deprivation (GO:0009414)|single fertilization (GO:0007338)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|vesicle (GO:0031982)				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						CTGCGGCCATCTGGGGATATT	0.557																																						uc001qnp.1		NA																	0				ovary(1)	1						c.(322-324)ATC>ATG		CD9 antigen							126.0	112.0	117.0					12																	6342628		2203	4300	6503	SO:0001583	missense	928				cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane		g.chr12:6342628C>G	M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278		"""CD molecules"", ""Tetraspanins"""	1709	protein-coding gene	gene with protein product	"""motility related protein-1"""	143030	"""CD9 antigen (p24)"""	MIC3		6198179	Standard	NM_001769		Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382518.1:c.324C>G	12.37:g.6342628C>G	ENSP00000371958:p.Ile108Met					CD9_uc010sev.1_Missense_Mutation_p.I108M|CD9_uc001qnq.1_Missense_Mutation_p.I108M	p.I108M	NM_001769	NP_001760	P21926	CD9_HUMAN			5	768	+			108			Helical; (Potential).		D3DUQ9|Q5J7W6|Q96ES4	Missense_Mutation	SNP	ENST00000382518.1	37	c.324C>G	CCDS8540.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138445	0.37728	.	.	ENSG00000010278	ENST00000382518;ENST00000536586;ENST00000382519;ENST00000425469;ENST00000543424;ENST00000009180;ENST00000382515	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.87	4.97	0.65823	.	0.270973	0.47455	D	0.000239	D	0.94095	0.8107	H	0.97240	3.965	0.54753	D	0.999983	D;P	0.63880	0.993;0.754	D;P	0.71414	0.973;0.82	D	0.95940	0.8946	10	0.87932	D	0	.	14.905	0.70711	0.0:0.856:0.144:0.0	.	108;108	B4DK09;P21926	.;CD9_HUMAN	M	108;108;131;108;21;108;39	ENSP00000371958:I108M;ENSP00000440985:I108M;ENSP00000371959:I131M;ENSP00000009180:I108M;ENSP00000371955:I39M	ENSP00000009180:I108M	I	+	3	3	CD9	6212889	1.000000	0.71417	0.998000	0.56505	0.056000	0.15407	3.036000	0.49767	1.482000	0.48325	-0.165000	0.13383	ATC		0.557	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103348.1			29	38	0	0	0	0	29	38				
PZP	5858	broad.mit.edu	37	12	9313713	9313713	+	Splice_Site	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:9313713C>T	ENST00000261336.2	-	23	2817		c.e23-1		PZP_ENST00000381997.2_Splice_Site|PZP_ENST00000539983.1_Splice_Site	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein						female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACATTAGCACCTTTAGAAACA	0.423																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.e23-1		pregnancy-zone protein precursor							92.0	88.0	89.0					12																	9313713		2203	4300	6503	SO:0001630	splice_region_variant	5858							g.chr12:9313713C>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2789-1G>A	12.37:g.9313713C>T						PZP_uc009zgl.2_Splice_Site_p.G716_splice|PZP_uc010sgo.1_Splice_Site|PZP_uc009zgm.1_Intron	p.G930_splice	NM_002864	NP_002855					23	2818	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Splice_Site	SNP	ENST00000261336.2	37	c.2789_splice	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604412	0.28623	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	.	.	.	3.8	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3163	0.66452	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PZP	9204980	0.813000	0.29090	0.289000	0.24876	0.050000	0.14768	2.081000	0.41596	2.056000	0.61249	0.563000	0.77884	.		0.423	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	Intron	7	57	0	0	0	0	7	57				
KIAA1551	55196	broad.mit.edu	37	12	32133942	32133942	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:32133942A>T	ENST00000312561.4	+	4	467	c.53A>T	c.(52-54)aAa>aTa	p.K18I	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	18																	CTGTATCCTAAAAGCCAGCCA	0.383																																						uc001rks.2		NA																	0				ovary(1)|skin(1)	2						c.(52-54)AAA>ATA		hypothetical protein LOC55196							102.0	91.0	95.0					12																	32133942		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32133942A>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.53A>T	12.37:g.32133942A>T	ENSP00000310338:p.Lys18Ile						p.K18I	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	467	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		18					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.53A>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	A	13.95	2.389378	0.42410	.	.	ENSG00000174718	ENST00000540924;ENST00000312561;ENST00000381054	T;T;T	0.11169	2.8;2.8;2.8	5.4	1.71	0.24356	.	0.395534	0.21747	N	0.069734	T	0.15392	0.0371	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.69142	0.962	T	0.05767	-1.0865	10	0.87932	D	0	.	4.4953	0.11833	0.5981:0.1619:0.24:0.0	.	18	Q9HCM1	CL035_HUMAN	I	18	ENSP00000445152:K18I;ENSP00000310338:K18I;ENSP00000370442:K18I	ENSP00000310338:K18I	K	+	2	0	C12orf35	32025209	0.979000	0.34478	0.053000	0.19242	0.255000	0.26057	1.878000	0.39608	0.325000	0.23359	0.533000	0.62120	AAA		0.383	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		19	30	0	0	0	0	19	30				
METAP2	10988	broad.mit.edu	37	12	95887871	95887871	+	Silent	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:95887871A>G	ENST00000323666.5	+	5	697	c.468A>G	c.(466-468)aaA>aaG	p.K156K	METAP2_ENST00000550777.1_Silent_p.K120K|METAP2_ENST00000551840.1_Silent_p.K155K|METAP2_ENST00000261220.9_Silent_p.K133K|METAP2_ENST00000546753.1_Silent_p.K133K	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						AAGAAAAGAAAGCATTAGATC	0.403																																						uc001tec.2		NA																	0					0						c.(466-468)AAA>AAG		methionyl aminopeptidase 2	L-Methionine(DB00134)						105.0	95.0	98.0					12																	95887871		2203	4300	6503	SO:0001819	synonymous_variant	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95887871A>G	U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.468A>G	12.37:g.95887871A>G						METAP2_uc010suv.1_Silent_p.K133K|METAP2_uc009ztd.2_Silent_p.K120K|METAP2_uc001ted.2_Silent_p.K155K|METAP2_uc001tef.2_Silent_p.K133K|METAP2_uc001tee.2_RNA	p.K156K	NM_006838	NP_006829	P50579	AMPM2_HUMAN			5	602	+			156						Silent	SNP	ENST00000323666.5	37	c.468A>G	CCDS9052.1																																																																																				0.403	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838		3	54	0	0	0	0	3	54				
APAF1	317	broad.mit.edu	37	12	99042256	99042256	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:99042256A>T	ENST00000551964.1	+	2	855	c.119A>T	c.(118-120)gAg>gTg	p.E40V	APAF1_ENST00000550527.1_Missense_Mutation_p.E40V|APAF1_ENST00000359972.2_Missense_Mutation_p.E40V|APAF1_ENST00000333991.1_Missense_Mutation_p.E40V|APAF1_ENST00000357310.1_Missense_Mutation_p.E40V|APAF1_ENST00000547743.1_Missense_Mutation_p.E40V|APAF1_ENST00000552268.1_Missense_Mutation_p.E40V|APAF1_ENST00000339433.3_Missense_Mutation_p.E40V|APAF1_ENST00000549007.1_Missense_Mutation_p.E40V|APAF1_ENST00000547045.1_Missense_Mutation_p.E40V	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	40	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ATATCAGAAGAGGAAAAAGTA	0.348																																						uc001tfz.2		NA																	0				ovary(2)|lung(1)	3						c.(118-120)GAG>GTG		apoptotic peptidase activating factor 1 isoform	Adenosine triphosphate(DB00171)						122.0	132.0	128.0					12																	99042256		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99042256A>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.119A>T	12.37:g.99042256A>T	ENSP00000448165:p.Glu40Val					APAF1_uc001tfy.2_Missense_Mutation_p.E40V|APAF1_uc001tga.2_Missense_Mutation_p.E40V|APAF1_uc001tgb.2_Missense_Mutation_p.E40V|APAF1_uc001tgc.2_Missense_Mutation_p.E40V	p.E40V	NM_181861	NP_863651	O14727	APAF_HUMAN			2	696	+			40			CARD.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.119A>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	A	8.619	0.890992	0.17613	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000547743;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.85	5.85	0.93711	DEATH-like (2);Caspase Recruitment (2);	0.044325	0.85682	D	0.000000	T	0.49983	0.1589	M	0.73598	2.24	0.51767	D	0.999936	B;P;B;B;D	0.89917	0.017;0.635;0.017;0.021;1.0	B;P;B;B;D	0.85130	0.015;0.663;0.019;0.078;0.997	T	0.44019	-0.9355	10	0.17369	T	0.5	-9.0368	16.2209	0.82257	1.0:0.0:0.0:0.0	.	40;40;40;40;40	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	V	40	ENSP00000448165:E40V;ENSP00000353059:E40V;ENSP00000349862:E40V;ENSP00000341830:E40V;ENSP00000334558:E40V;ENSP00000450175:E40V;ENSP00000448826:E40V;ENSP00000448449:E40V;ENSP00000449791:E40V;ENSP00000448161:E40V	ENSP00000334558:E40V	E	+	2	0	APAF1	97566387	1.000000	0.71417	0.989000	0.46669	0.147000	0.21601	9.141000	0.94612	2.223000	0.72356	0.533000	0.62120	GAG		0.348	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		4	112	0	0	0	0	4	112				
UTP20	27340	broad.mit.edu	37	12	101732715	101732715	+	Silent	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:101732715A>G	ENST00000261637.4	+	31	4167	c.3993A>G	c.(3991-3993)aaA>aaG	p.K1331K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1331					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAGTCAGTAAAGAGCTTGGCA	0.328																																						uc001tia.1		NA																	0				ovary(2)|breast(2)	4						c.(3991-3993)AAA>AAG		down-regulated in metastasis							63.0	67.0	65.0					12																	101732715		2203	4299	6502	SO:0001819	synonymous_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101732715A>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3993A>G	12.37:g.101732715A>G							p.K1331K	NM_014503	NP_055318	O75691	UTP20_HUMAN			31	4149	+			1331					Q9H3H4	Silent	SNP	ENST00000261637.4	37	c.3993A>G	CCDS9081.1																																																																																				0.328	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		19	36	0	0	0	0	19	36				
RITA1	84934	broad.mit.edu	37	12	113629453	113629453	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:113629453C>G	ENST00000548278.1	+	4	1333	c.641C>G	c.(640-642)gCc>gGc	p.A214G	RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Missense_Mutation_p.A238G|C12orf52_ENST00000549621.1_Missense_Mutation_p.A214G	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		214	Interaction with tubulin.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GGTCATCCAGCCACCAGTGCC	0.602																																						uc001tur.1		NA																	0					0						c.(640-642)GCC>GGC		hypothetical protein LOC84934							63.0	56.0	59.0					12																	113629453		2203	4300	6503	SO:0001583	missense	84934				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding	g.chr12:113629453C>G																												ENST00000548278.1:c.641C>G	12.37:g.113629453C>G	ENSP00000449841:p.Ala214Gly					C12orf52_uc009zwg.1_Missense_Mutation_p.A211G|C12orf52_uc001tus.1_Missense_Mutation_p.A214G|C12orf52_uc001tut.1_Missense_Mutation_p.A238G	p.A214G	NM_032848	NP_116237	Q96K30	RITA_HUMAN			4	1109	+			214			Interaction with tubulin.		B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Missense_Mutation	SNP	ENST00000548278.1	37	c.641C>G	CCDS9166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.314|8.314	0.822692|0.822692	0.16678|0.16678	.|.	.|.	ENSG00000139405|ENSG00000139405	ENST00000549621;ENST00000548278;ENST00000552495;ENST00000436053;ENST00000266813|ENST00000299731	T;T;T|.	0.33216|.	1.43;1.43;1.42|.	4.44|4.44	0.305|0.305	0.15801|0.15801	.|.	0.376195|.	0.22121|.	N|.	0.064340|.	T|T	0.19967|0.19967	0.0480|0.0480	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	P;B|.	0.36535|.	0.557;0.358|.	B;B|.	0.32864|.	0.154;0.073|.	T|T	0.21965|0.21965	-1.0230|-1.0230	10|6	0.20519|0.37606	T|T	0.43|0.19	-0.8951|-0.8951	1.6767|1.6767	0.02823|0.02823	0.166:0.48:0.1616:0.1924|0.166:0.48:0.1616:0.1924	.|.	238;214|.	F8VRG5;Q96K30|.	.;RITA_HUMAN|.	G|A	214;214;238;214;211|161	ENSP00000448289:A214G;ENSP00000449841:A214G;ENSP00000448680:A238G|.	ENSP00000266813:A211G|ENSP00000299731:P161A	A|P	+|+	2|1	0|0	C12orf52|C12orf52	112113836|112113836	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.228000|0.228000	0.25075|0.25075	-0.215000|-0.215000	0.09279|0.09279	0.114000|0.114000	0.18032|0.18032	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.602	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1			3	62	0	0	0	0	3	62				
TMEM120B	144404	broad.mit.edu	37	12	122213541	122213541	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:122213541C>T	ENST00000449592.2	+	12	1034	c.933C>T	c.(931-933)ctC>ctT	p.L311L	TMEM120B_ENST00000540377.1_Missense_Mutation_p.H15Y	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	311						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TCACCTTCCTCATCCTCTTCC	0.612											OREG0022207	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ubc.3		NA																	0					0						c.(931-933)CTC>CTT		transmembrane protein 120B							72.0	83.0	79.0					12																	122213541		2091	4217	6308	SO:0001819	synonymous_variant	144404					integral to membrane		g.chr12:122213541C>T	BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.933C>T	12.37:g.122213541C>T			OREG0022207	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1517	TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_5'Flank	p.L311L	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)	12	1077	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		311			Helical; (Potential).		A0PK01|B3KX33	Silent	SNP	ENST00000449592.2	37	c.933C>T	CCDS41852.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648870	0.29336	.	.	ENSG00000188735	ENST00000540377	.	.	.	5.38	-0.173	0.13322	.	.	.	.	.	T	0.51822	0.1697	.	.	.	0.20403	N	0.999905	.	.	.	.	.	.	T	0.53620	-0.8413	5	0.87932	D	0	-22.5715	13.1048	0.59241	0.0:0.3442:0.5841:0.0716	.	.	.	.	Y	15	.	ENSP00000446159:H15Y	H	+	1	0	TMEM120B	120697924	0.000000	0.05858	0.960000	0.40013	0.856000	0.48823	-1.970000	0.01504	-0.032000	0.13758	-0.175000	0.13238	CAT		0.612	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402158.1	NM_001080825		38	60	0	0	0	0	38	60				
DCLK1	9201	broad.mit.edu	37	13	36382386	36382386	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr13:36382386C>A	ENST00000360631.3	-	14	2049	c.1838G>T	c.(1837-1839)tGg>tTg	p.W613L	DCLK1_ENST00000255448.4_Missense_Mutation_p.W613L|DCLK1_ENST00000379893.1_Missense_Mutation_p.W306L			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	613	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AACATTATCCCAGTATGGAGA	0.428																																						uc001uvf.2		NA																	0				stomach(6)|ovary(2)|skin(1)	9						c.(1837-1839)TGG>TTG		doublecortin-like kinase 1							223.0	208.0	213.0					13																	36382386		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36382386C>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1838G>T	13.37:g.36382386C>A	ENSP00000353846:p.Trp613Leu					DCLK1_uc001uve.3_Missense_Mutation_p.W306L|DCLK1_uc010teh.1_Missense_Mutation_p.W306L|DCLK1_uc010abk.2_Missense_Mutation_p.W133L	p.W613L	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	14	2071	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	613			Protein kinase.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.1838G>T		.	.	.	.	.	.	.	.	.	.	C	33	5.285883	0.95517	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451	T;T;T	0.38240	1.15;1.15;1.15	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61602	0.2360	M	0.69463	2.115	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.62868	-0.6763	10	0.87932	D	0	.	19.7727	0.96373	0.0:1.0:0.0:0.0	.	306;613;613;306	O15075-4;O15075;O15075-2;O15075-3	.;DCLK1_HUMAN;.;.	L	305;613;613;306;595	ENSP00000255448:W613L;ENSP00000353846:W613L;ENSP00000369223:W306L	ENSP00000255448:W613L	W	-	2	0	DCLK1	35280386	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.689000	0.84165	2.758000	0.94735	0.563000	0.77884	TGG		0.428	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		6	139	1	0	8.13e-05	9.33e-05	6	139				
RBM26	64062	broad.mit.edu	37	13	79896555	79896555	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr13:79896555G>C	ENST00000438737.2	-	21	3303	c.2863C>G	c.(2863-2865)Ctg>Gtg	p.L955V	RBM26_ENST00000267229.7_Missense_Mutation_p.L928V|RBM26_ENST00000438724.1_Missense_Mutation_p.L931V			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	955	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTCCATGCCAGTTTTAGATCT	0.299																																						uc001vkz.2		NA																	0				ovary(1)	1						c.(2869-2871)CTG>GTG		RNA binding motif protein 26							118.0	115.0	116.0					13																	79896555		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79896555G>C	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2863C>G	13.37:g.79896555G>C	ENSP00000387531:p.Leu955Val					RBM26_uc001vky.2_Missense_Mutation_p.L928V|RBM26_uc001vla.2_Missense_Mutation_p.L931V|RBM26_uc010tia.1_Missense_Mutation_p.L312V|RBM26_uc001vkx.2_Missense_Mutation_p.L667V	p.L957V	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	21	2883	-		Acute lymphoblastic leukemia(28;0.0279)	955			RRM 2.		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.2869C>G		.	.	.	.	.	.	.	.	.	.	G	13.49	2.253282	0.39797	.	.	ENSG00000139746	ENST00000449987;ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.43294	0.95;0.96	5.42	4.57	0.56435	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.64402	D	0.000001	T	0.38453	0.1041	N	0.04203	-0.255	0.54753	D	0.999985	D;D;D;D	0.76494	0.999;0.998;0.999;0.998	D;D;D;D	0.80764	0.994;0.99;0.994;0.99	T	0.36432	-0.9748	10	0.31617	T	0.26	-6.1479	10.6927	0.45882	0.2027:0.0:0.7973:0.0	.	312;931;955;928	B4DZH7;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	V	141;928;956;955;931	ENSP00000267229:L928V;ENSP00000390222:L931V	ENSP00000267229:L928V	L	-	1	2	RBM26	78794556	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.821000	0.48065	1.266000	0.44231	0.650000	0.86243	CTG		0.299	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		21	17	0	0	0	0	21	17				
PRKD1	5587	broad.mit.edu	37	14	30046531	30046531	+	Silent	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:30046531C>A	ENST00000331968.5	-	18	2881	c.2652G>T	c.(2650-2652)ctG>ctT	p.L884L	PRKD1_ENST00000415220.2_Silent_p.L892L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	884					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TTGGATTGATCAGGTGTGTGG	0.527																																						uc001wqh.2		NA																	0				lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(2650-2652)CTG>CTT		protein kinase D1							146.0	121.0	130.0					14																	30046531		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30046531C>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2652G>T	14.37:g.30046531C>A							p.L884L	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	18	2833	-	Hepatocellular(127;0.0604)		884					A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.2652G>T	CCDS9637.1																																																																																				0.527	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		34	101	1	0	1.22e-17	1.55e-17	34	101				
ZFYVE26	23503	broad.mit.edu	37	14	68272336	68272337	+	Splice_Site	DNP	CT	CT	AC			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:68272336_68272337CT>AC	ENST00000347230.4	-	7	1156		c.e7-1		ZFYVE26_ENST00000555452.1_Splice_Site	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26						cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTGCTGTTACCTGTAAGTCAAA	0.431																																						uc001xka.2		NA																	0				ovary(9)|breast(2)	11						c.e7-1		zinc finger, FYVE domain containing 26																																				SO:0001630	splice_region_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68272336_68272337CT>AC	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1018_1018delinsAC	14.37:g.68272336_68272337delinsAC						ZFYVE26_uc010tsz.1_Splice_Site|ZFYVE26_uc001xkc.3_Splice_Site_p.V340_splice|ZFYVE26_uc010tta.1_Splice_Site_p.V340_splice	p.V340_splice	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	7	1157	-								B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Splice_Site	DNP	ENST00000347230.4	37	c.1018_splice	CCDS9788.1																																																																																				0.431	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346	Intron	7	54	0	0	0	0	7	54				
DLST	1743	broad.mit.edu	37	14	75369021	75369021	+	Silent	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:75369021C>G	ENST00000334220.4	+	15	1411	c.1350C>G	c.(1348-1350)ctC>ctG	p.L450L	DLST_ENST00000334212.6_Silent_p.L364L	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	450					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)	p.L450L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		GAGTCCTCCTCCTGGATCTTT	0.547																																						uc001xqv.2		NA																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1348-1350)CTC>CTG		dihydrolipoamide S-succinyltransferase (E2							60.0	59.0	59.0					14																	75369021		2203	4300	6503	SO:0001819	synonymous_variant	1743				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	g.chr14:75369021C>G		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.1350C>G	14.37:g.75369021C>G						DLST_uc001xqt.2_Silent_p.L366L|DLST_uc010tuw.1_Silent_p.L364L	p.L450L	NM_001933	NP_001924	P36957	ODO2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00698)	15	1413	+			450					B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Silent	SNP	ENST00000334220.4	37	c.1350C>G	CCDS9833.1																																																																																				0.547	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1			15	56	0	0	0	0	15	56				
SERPINA5	5104	broad.mit.edu	37	14	95058474	95058474	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:95058474G>T	ENST00000554866.1	+	5	1233	c.1119G>T	c.(1117-1119)agG>agT	p.R373S	SERPINA5_ENST00000553780.1_Missense_Mutation_p.R373S|RP11-986E7.7_ENST00000553947.1_Splice_Site|SERPINA5_ENST00000554276.1_Missense_Mutation_p.R373S|SERPINA5_ENST00000329597.7_Missense_Mutation_p.R373S			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	373		Reactive bond.			fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TCACTTTCAGGTCGGCCCGCC	0.562																																						uc001ydm.2		NA																	0				ovary(2)	2						c.(1117-1119)AGG>AGT		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						203.0	209.0	207.0					14																	95058474		2203	4300	6503	SO:0001583	missense	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95058474G>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.1119G>T	14.37:g.95058474G>T	ENSP00000451126:p.Arg373Ser					SERPINA3_uc001ydo.3_Splice_Site	p.R373S	NM_000624	NP_000615	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	6	1329	+			373				Reactive bond.	Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	c.1119G>T	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	G	8.797	0.931950	0.18131	.	.	ENSG00000188488	ENST00000553780;ENST00000554866;ENST00000329597;ENST00000537685;ENST00000438291;ENST00000554276	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.49	-1.17	0.09648	Serpin domain (3);	0.509177	0.18188	N	0.148901	T	0.69015	0.3064	L	0.49571	1.57	0.09310	N	0.999999	B	0.23735	0.09	B	0.17979	0.02	T	0.50056	-0.8872	10	0.22109	T	0.4	.	1.6309	0.02732	0.4638:0.1382:0.2574:0.1406	.	373	P05154	IPSP_HUMAN	S	373;373;373;225;297;373	ENSP00000450837:R373S;ENSP00000451126:R373S;ENSP00000333203:R373S;ENSP00000451610:R373S	ENSP00000333203:R373S	R	+	3	2	SERPINA5	94128227	0.000000	0.05858	0.014000	0.15608	0.102000	0.19082	-0.635000	0.05471	0.121000	0.18284	0.655000	0.94253	AGG		0.562	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		9	442	1	0	0.000274275	0.000309829	9	442				
PPP2R5C	5527	broad.mit.edu	37	14	102384193	102384193	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:102384193C>T	ENST00000334743.5	+	13	1400	c.1352C>T	c.(1351-1353)aCc>aTc	p.T451I	PPP2R5C_ENST00000422945.2_Missense_Mutation_p.T482I|PPP2R5C_ENST00000328724.5_Intron|PPP2R5C_ENST00000350249.3_Intron	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	451					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAAGCCAGCACCATGAGCATT	0.502																																						uc001yko.2		NA																	0				ovary(1)|breast(1)	2						c.(1351-1353)ACC>ATC		gamma isoform of regulatory subunit B56, protein							186.0	156.0	166.0					14																	102384193		2203	4300	6503	SO:0001583	missense	5527				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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity	g.chr14:102384193C>T	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.1352C>T	14.37:g.102384193C>T	ENSP00000333905:p.Thr451Ile					PPP2R5C_uc010txr.1_Missense_Mutation_p.T482I|PPP2R5C_uc001ykk.2_Intron|PPP2R5C_uc001ykp.2_Intron	p.T451I	NM_002719	NP_002710	Q13362	2A5G_HUMAN			13	1492	+			451					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	c.1352C>T	CCDS9964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.636|7.636	0.679848|0.679848	0.14907|0.14907	.|.	.|.	ENSG00000078304|ENSG00000078304	ENST00000555237|ENST00000422945;ENST00000557268;ENST00000334743	.|T;T;T	.|0.44482	.|0.92;0.92;0.92	5.84|5.84	2.97|2.97	0.34412|0.34412	.|.	.|.	.|.	.|.	.|.	T|T	0.35828|0.35828	0.0945|0.0945	L|L	0.47716|0.47716	1.5|1.5	0.20873|0.20873	N|N	0.999831|0.999831	.|B;B	.|0.16396	.|0.017;0.009	.|B;B	.|0.22152	.|0.038;0.017	T|T	0.26224|0.26224	-1.0109|-1.0109	5|9	.|0.34782	.|T	.|0.22	.|.	9.3159|9.3159	0.37934|0.37934	0.0:0.5105:0.4006:0.0889|0.0:0.5105:0.4006:0.0889	.|.	.|482;451	.|F5GWP3;Q13362	.|.;2A5G_HUMAN	S|I	76|482;480;451	.|ENSP00000412324:T482I;ENSP00000450931:T480I;ENSP00000333905:T451I	.|ENSP00000333905:T451I	P|T	+|+	1|2	0|0	PPP2R5C|PPP2R5C	101453946|101453946	0.229000|0.229000	0.23729|0.23729	0.877000|0.877000	0.34402|0.34402	0.663000|0.663000	0.39108|0.39108	0.308000|0.308000	0.19314|0.19314	0.358000|0.358000	0.24211|0.24211	-0.304000|-0.304000	0.09214|0.09214	CCA|ACC		0.502	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		45	108	0	0	0	0	45	108				
HSP90AA1	3320	broad.mit.edu	37	14	102552329	102552329	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:102552329T>C	ENST00000216281.8	-	3	500	c.295A>G	c.(295-297)Acc>Gcc	p.T99A	HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.T221A	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	99					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TCAGCCTTGGTCATTCCAATT	0.433																																						uc001yku.3		NA																	0				ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7						c.(295-297)ACC>GCC		heat shock 90kDa protein 1, alpha isoform 2	Rifabutin(DB00615)						80.0	80.0	80.0					14																	102552329		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102552329T>C	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.295A>G	14.37:g.102552329T>C	ENSP00000216281:p.Thr99Ala					HSP90AA1_uc001ykv.3_Missense_Mutation_p.T221A|HSP90AA1_uc001ykw.1_Intron|HSP90AA1_uc001ykx.1_Missense_Mutation_p.T88A	p.T99A	NM_005348	NP_005339	P07900	HS90A_HUMAN			3	485	-			99					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.295A>G	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.664935	0.67700	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000553585	T;T;T	0.79247	-1.25;-1.25;-1.25	3.81	3.81	0.43845	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	U	0.000000	D	0.90978	0.7163	H	0.96943	3.91	0.80722	D	1	D;P	0.55605	0.972;0.84	D;D	0.67900	0.954;0.937	D	0.93288	0.6666	10	0.72032	D	0.01	.	12.8678	0.57949	0.0:0.0:0.0:1.0	.	221;99	P07900-2;P07900	.;HS90A_HUMAN	A	99;221;99	ENSP00000216281:T99A;ENSP00000335153:T221A;ENSP00000450712:T99A	ENSP00000216281:T99A	T	-	1	0	HSP90AA1	101622082	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.749000	0.85096	1.508000	0.48769	0.477000	0.44152	ACC		0.433	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		4	85	0	0	0	0	4	85				
BAHD1	22893	broad.mit.edu	37	15	40756083	40756083	+	Silent	SNP	A	A	G	rs564303133		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:40756083A>G	ENST00000416165.1	+	4	1910	c.1839A>G	c.(1837-1839)cgA>cgG	p.R613R	BAHD1_ENST00000561234.1_Silent_p.R612R|RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000560846.1_Silent_p.R613R	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	613					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CAGCCATCCGAAAGAGCTACC	0.552																																						uc001zlu.2		NA																	0					0						c.(1837-1839)CGA>CGG		bromo adjacent homology domain containing 1							84.0	77.0	80.0					15																	40756083		2203	4300	6503	SO:0001819	synonymous_variant	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40756083A>G	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1839A>G	15.37:g.40756083A>G						BAHD1_uc001zlt.2_Silent_p.R612R|BAHD1_uc010bbp.1_Silent_p.R612R|BAHD1_uc001zlv.2_Silent_p.R613R	p.R613R	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	4	1910	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	613					Q8NDF7|Q9Y2F4	Silent	SNP	ENST00000416165.1	37	c.1839A>G	CCDS10058.1																																																																																				0.552	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		7	14	0	0	0	0	7	14				
RPAP1	26015	broad.mit.edu	37	15	41814044	41814044	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:41814044G>C	ENST00000304330.4	-	21	3046	c.2930C>G	c.(2929-2931)gCc>gGc	p.A977G	RPAP1_ENST00000561603.1_Missense_Mutation_p.A977G	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	977	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ATGATAGAGGGCAGCATGGGT	0.602																																						uc001zod.2		NA																	0				large_intestine(1)	1						c.(2929-2931)GCC>GGC		RNA polymerase II associated protein 1							48.0	45.0	46.0					15																	41814044		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41814044G>C	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2930C>G	15.37:g.41814044G>C	ENSP00000306123:p.Ala977Gly					RPAP1_uc001zoc.2_5'UTR	p.A977G	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	21	3054	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	977			Leu-rich.		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.2930C>G	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276438	0.59649	.	.	ENSG00000103932	ENST00000304330	T	0.76709	-1.04	4.88	2.91	0.33838	.	0.197301	0.45126	D	0.000385	T	0.68979	0.3060	L	0.51422	1.61	0.30167	N	0.801668	B	0.31026	0.304	B	0.27170	0.077	T	0.72354	-0.4319	10	0.87932	D	0	-2.1924	10.2588	0.43414	0.0753:0.0:0.7866:0.138	.	977	Q9BWH6	RPAP1_HUMAN	G	977	ENSP00000306123:A977G	ENSP00000306123:A977G	A	-	2	0	RPAP1	39601336	0.981000	0.34729	0.591000	0.28745	0.229000	0.25112	3.310000	0.51911	2.515000	0.84797	0.557000	0.71058	GCC		0.602	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		3	26	0	0	0	0	3	26				
MAP1A	4130	broad.mit.edu	37	15	43819557	43819557	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:43819557G>C	ENST00000300231.5	+	4	6336	c.5886G>C	c.(5884-5886)gaG>gaC	p.E1962D	MAP1A_ENST00000382031.1_Missense_Mutation_p.E2200D|MAP1A_ENST00000399453.1_Missense_Mutation_p.E1962D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1962					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ATCCTGATGAGAGAAGCTTTC	0.562																																						uc001zrt.2		NA																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(5884-5886)GAG>GAC		microtubule-associated protein 1A	Estramustine(DB01196)						73.0	80.0	77.0					15																	43819557		2175	4283	6458	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43819557G>C	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5886G>C	15.37:g.43819557G>C	ENSP00000300231:p.Glu1962Asp						p.E1962D	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	6353	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1962					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.5886G>C	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958365	0.34565	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01998	4.51;4.52;4.52	4.88	2.84	0.33178	.	0.000000	0.34507	N	0.003920	T	0.02047	0.0064	L	0.36672	1.1	0.36863	D	0.888519	B	0.11235	0.004	B	0.13407	0.009	T	0.45454	-0.9260	10	0.45353	T	0.12	-6.6857	4.5396	0.12050	0.0842:0.2776:0.4944:0.1438	.	1962	P78559	MAP1A_HUMAN	D	2200;1962;1962	ENSP00000371462:E2200D;ENSP00000382380:E1962D;ENSP00000300231:E1962D	ENSP00000300231:E1962D	E	+	3	2	MAP1A	41606849	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.658000	0.37376	1.226000	0.43582	0.563000	0.77884	GAG		0.562	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		24	62	0	0	0	0	24	62				
SLC12A1	6557	broad.mit.edu	37	15	48500299	48500299	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:48500299G>A	ENST00000558405.1	+	1	397	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	SLC12A1_ENST00000561031.1_Missense_Mutation_p.R128Q|SLC12A1_ENST00000396577.3_Missense_Mutation_p.R128Q|SLC12A1_ENST00000380993.3_Missense_Mutation_p.R128Q|SLC12A1_ENST00000330289.6_Missense_Mutation_p.R128Q			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	128					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AAGGTCAACCGACCCAGCCTG	0.473																																						uc001zwn.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(382-384)CGA>CAA		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						79.0	77.0	78.0					15																	48500299		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48500299G>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.383G>A	15.37:g.48500299G>A	ENSP00000453409:p.Arg128Gln					SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Missense_Mutation_p.R128Q|SLC12A1_uc010uex.1_Missense_Mutation_p.R128Q	p.R128Q	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	2	599	+		all_lung(180;0.00219)	128			Cytoplasmic (Potential).		A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.383G>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	G	36	5.604372	0.96626	.	.	ENSG00000074803	ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.99660	-6.32;-6.32;-6.32	5.58	5.58	0.84498	Amino acid permease, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99654	0.9872	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98072	1.0399	10	0.87932	D	0	.	19.5825	0.95473	0.0:0.0:1.0:0.0	.	128;128	Q8IUN5;Q13621	.;S12A1_HUMAN	Q	128	ENSP00000370381:R128Q;ENSP00000379822:R128Q;ENSP00000331550:R128Q	ENSP00000331550:R128Q	R	+	2	0	SLC12A1	46287591	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	9.869000	0.99810	2.624000	0.88883	0.655000	0.94253	CGA		0.473	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			13	48	0	0	0	0	13	48				
WDR72	256764	broad.mit.edu	37	15	53998227	53998227	+	Silent	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:53998227T>C	ENST00000396328.1	-	10	1238	c.999A>G	c.(997-999)aaA>aaG	p.K333K	WDR72_ENST00000360509.5_Silent_p.K333K|WDR72_ENST00000559418.1_Silent_p.K343K|WDR72_ENST00000557913.1_Silent_p.K330K	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	333										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAAAAGGCTCTTTCCTTTCAT	0.403																																						uc002acj.2		NA																	0				lung(1)|skin(1)	2						c.(997-999)AAA>AAG		WD repeat domain 72							104.0	105.0	104.0					15																	53998227		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:53998227T>C	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.999A>G	15.37:g.53998227T>C						WDR72_uc010bfi.1_Silent_p.K333K	p.K333K	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	10	1041	-			333			WD 4.		Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.999A>G	CCDS10151.1																																																																																				0.403	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		4	31	0	0	0	0	4	31				
ARNT2	9915	broad.mit.edu	37	15	80762647	80762647	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:80762647G>T	ENST00000303329.4	+	4	448	c.283G>T	c.(283-285)Gca>Tca	p.A95S	ARNT2_ENST00000527771.1_Missense_Mutation_p.A84S|ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000533983.1_Missense_Mutation_p.A84S	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	95	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CACATGCAGCGCACTGGCTCG	0.552																																						uc002bfr.2		NA																	0				central_nervous_system(3)|ovary(1)|pancreas(1)	5						c.(283-285)GCA>TCA		aryl hydrocarbon receptor nuclear translocator							87.0	71.0	76.0					15																	80762647		2203	4300	6503	SO:0001583	missense	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80762647G>T	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.283G>T	15.37:g.80762647G>T	ENSP00000307479:p.Ala95Ser					ARNT2_uc002bfq.2_Missense_Mutation_p.A95S|ARNT2_uc010unm.1_Missense_Mutation_p.A84S|ARNT2_uc002bfs.2_Missense_Mutation_p.A84S	p.A95S	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		4	449	+			95			Helix-loop-helix motif.		B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.283G>T	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975596	0.74360	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	D	0.98178	-4.77	5.0	5.0	0.66597	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.96645	0.8905	N	0.11313	0.125	0.80722	D	1	D;P	0.57571	0.98;0.613	P;P	0.55615	0.78;0.609	D	0.97395	0.9992	10	0.49607	T	0.09	.	18.4737	0.90783	0.0:0.0:1.0:0.0	.	95;95	Q9HBZ2;Q86TN1	ARNT2_HUMAN;.	S	84;95;95	ENSP00000307479:A95S	ENSP00000307479:A95S	A	+	1	0	ARNT2	78549702	1.000000	0.71417	0.986000	0.45419	0.235000	0.25334	9.186000	0.94906	2.597000	0.87782	0.650000	0.86243	GCA		0.552	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			13	31	1	0	1.36e-13	1.71e-13	13	31				
ARNT2	9915	broad.mit.edu	37	15	80872870	80872870	+	Missense_Mutation	SNP	C	C	T	rs144530385		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:80872870C>T	ENST00000303329.4	+	16	1897	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C	ARNT2_ENST00000527771.1_Missense_Mutation_p.R567C|hsa-mir-5572_ENST00000583188.1_RNA|RP11-379K22.3_ENST00000603875.1_RNA|ARNT2_ENST00000533983.1_Missense_Mutation_p.R567C	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	578					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GACAGGGAGTCGTCCGCCCTT	0.567																																						uc002bfr.2		NA																	0				central_nervous_system(3)|ovary(1)|pancreas(1)	5						c.(1732-1734)CGT>TGT		aryl hydrocarbon receptor nuclear translocator		C	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	82.0	72.0	75.0		1732	5.0	0.8	15	dbSNP_134	75	0,8600		0,0,4300	no	missense	ARNT2	NM_014862.3	180	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	578/718	80872870	3,13003	2203	4300	6503	SO:0001583	missense	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80872870C>T	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1732C>T	15.37:g.80872870C>T	ENSP00000307479:p.Arg578Cys					ARNT2_uc010unm.1_Missense_Mutation_p.R567C|ARNT2_uc002bfs.2_Missense_Mutation_p.R567C	p.R578C	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		16	1898	+			578					B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.1732C>T	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808396	0.70797	6.81E-4	0.0	ENSG00000172379	ENST00000360062;ENST00000303329	T	0.59502	0.26	5.02	5.02	0.67125	.	0.205292	0.42682	D	0.000679	T	0.67031	0.2850	M	0.62723	1.935	0.80722	D	1	D	0.61697	0.99	P	0.51657	0.676	T	0.71928	-0.4444	10	0.66056	D	0.02	.	18.32	0.90234	0.0:1.0:0.0:0.0	.	578	Q9HBZ2	ARNT2_HUMAN	C	567;578	ENSP00000307479:R578C	ENSP00000307479:R578C	R	+	1	0	ARNT2	78659925	1.000000	0.71417	0.843000	0.33291	0.433000	0.31745	3.852000	0.55934	2.328000	0.79073	0.561000	0.74099	CGT		0.567	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			15	39	0	0	0	0	15	39				
MAN2A2	4122	broad.mit.edu	37	15	91447520	91447520	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:91447520G>A	ENST00000559717.1	+	2	542	c.83G>A	c.(82-84)cGa>cAa	p.R28Q	MAN2A2_ENST00000360468.3_Missense_Mutation_p.R28Q			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	28					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATGCTGGACCGAGTGCAACAC	0.547																																						uc010bnz.2		NA																	0				large_intestine(2)|ovary(1)	3						c.(82-84)CGA>CAA		mannosidase, alpha, class 2A, member 2							170.0	153.0	159.0					15																	91447520		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91447520G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.83G>A	15.37:g.91447520G>A	ENSP00000452948:p.Arg28Gln					MAN2A2_uc010boa.2_Missense_Mutation_p.R70Q|MAN2A2_uc002bqc.2_Missense_Mutation_p.R28Q|MAN2A2_uc010uql.1_5'Flank	p.R28Q	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		2	198	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		28			Lumenal (Potential).		A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.83G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	36	5.812452	0.96975	.	.	ENSG00000196547	ENST00000360468	T	0.77750	-1.12	5.67	5.67	0.87782	.	0.066013	0.64402	D	0.000009	T	0.81945	0.4930	L	0.50333	1.59	0.80722	D	1	D;D	0.65815	0.995;0.992	P;P	0.61592	0.891;0.716	T	0.80306	-0.1438	10	0.38643	T	0.18	-9.9803	11.9944	0.53194	0.0804:0.0:0.9196:0.0	.	28;28	P49641-1;P49641	.;MA2A2_HUMAN	Q	28	ENSP00000353655:R28Q	ENSP00000353655:R28Q	R	+	2	0	MAN2A2	89248524	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.480000	0.81109	2.678000	0.91216	0.555000	0.69702	CGA		0.547	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		23	76	0	0	0	0	23	76				
CACNA1H	8912	broad.mit.edu	37	16	1262016	1262016	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:1262016T>C	ENST00000348261.5	+	25	4885	c.4637T>C	c.(4636-4638)gTg>gCg	p.V1546A	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1546A|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1546A	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1546					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGCTTCTTCGTGCTCAACATG	0.642																																						uc002cks.2		NA																	0				breast(2)	2						c.(4636-4638)GTG>GCG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)						250.0	264.0	259.0					16																	1262016		2170	4272	6442	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1262016T>C	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4637T>C	16.37:g.1262016T>C	ENSP00000334198:p.Val1546Ala					CACNA1H_uc002ckt.2_Missense_Mutation_p.V1546A|CACNA1H_uc002cku.2_Missense_Mutation_p.V252A|CACNA1H_uc010brj.2_Missense_Mutation_p.V252A|CACNA1H_uc002ckv.2_Missense_Mutation_p.V252A	p.V1546A	NM_021098	NP_066921	O95180	CAC1H_HUMAN			25	4885	+		Hepatocellular(780;0.00369)	1546			Helical; Name=S6 of repeat III; (Potential).|III.		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.4637T>C	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.695390	0.88830	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98717	-5.09;-5.09	4.0	4.0	0.46444	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99111	0.9694	M	0.88979	2.995	0.51482	D	0.999923	D;D;D;P;D	0.76494	0.999;0.996;0.987;0.942;0.981	D;D;P;P;D	0.85130	0.997;0.98;0.908;0.882;0.952	D	0.99327	1.0908	10	0.87932	D	0	.	12.5054	0.55977	0.0:0.0:0.0:1.0	.	287;287;287;1546;1546	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	A	1546	ENSP00000334198:V1546A;ENSP00000351401:V1546A	ENSP00000334198:V1546A	V	+	2	0	CACNA1H	1202017	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.860000	0.69546	1.796000	0.52611	0.260000	0.18958	GTG		0.642	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		98	175	0	0	0	0	98	175				
UMOD	7369	broad.mit.edu	37	16	20347992	20347992	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:20347992T>C	ENST00000570689.1	-	9	1944	c.1798A>G	c.(1798-1800)Aac>Gac	p.N600D	UMOD_ENST00000396134.2_Missense_Mutation_p.N633D|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396142.2_Missense_Mutation_p.N600D|UMOD_ENST00000396138.4_Missense_Mutation_p.N649D|UMOD_ENST00000302509.4_Missense_Mutation_p.N600D|UMOD_ENST00000424589.1_Missense_Mutation_p.N633D			P07911	UROM_HUMAN	uromodulin	600					cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGACCCAAGTTCAGGACACGG	0.527																																						uc002dgz.2		NA																	0				ovary(1)|skin(1)	2						c.(1798-1800)AAC>GAC		uromodulin precursor							121.0	100.0	107.0					16																	20347992		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20347992T>C	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1798A>G	16.37:g.20347992T>C	ENSP00000460548:p.Asn600Asp					UMOD_uc002dha.2_Missense_Mutation_p.N600D|UMOD_uc002dhb.2_Missense_Mutation_p.N633D	p.N600D	NM_003361	NP_003352	P07911	UROM_HUMAN			9	1927	-			600					B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1798A>G	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.505689	0.44558	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	T;T;T;T	0.80653	-1.4;-1.4;-1.39;-1.39	4.33	4.33	0.51752	.	0.000000	0.51477	D	0.000086	T	0.79370	0.4434	N	0.26042	0.785	0.31602	N	0.652602	D;B	0.69078	0.997;0.017	D;B	0.75020	0.985;0.029	T	0.74172	-0.3751	10	0.11485	T	0.65	-37.9697	10.1019	0.42511	0.0:0.0:0.0:1.0	.	633;600	E9PEA4;P07911	.;UROM_HUMAN	D	600;633;633;600;578;600	ENSP00000379438:N633D;ENSP00000416346:N633D;ENSP00000306279:N600D;ENSP00000379446:N600D	ENSP00000306279:N600D	N	-	1	0	UMOD	20255493	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.311000	0.51919	1.922000	0.55676	0.533000	0.62120	AAC		0.527	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			6	47	0	0	0	0	6	47				
TNRC6A	27327	broad.mit.edu	37	16	24802394	24802394	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:24802394A>G	ENST00000395799.3	+	6	2560	c.2431A>G	c.(2431-2433)Aca>Gca	p.T811A	TNRC6A_ENST00000315183.7_Missense_Mutation_p.T811A	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	811	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTCTGCTGCTACAGGAATGGT	0.517																																						uc002dmm.2		NA																	0				ovary(2)	2						c.(2431-2433)ACA>GCA		trinucleotide repeat containing 6A							38.0	39.0	39.0					16																	24802394		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24802394A>G	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2431A>G	16.37:g.24802394A>G	ENSP00000379144:p.Thr811Ala					TNRC6A_uc010bxs.2_Missense_Mutation_p.T558A|TNRC6A_uc010vcc.1_Missense_Mutation_p.T558A|TNRC6A_uc002dmn.2_Missense_Mutation_p.T558A|TNRC6A_uc002dmo.2_Missense_Mutation_p.T558A	p.T811A	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	2545	+			811			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.2431A>G	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	A	8.348	0.830156	0.16749	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.12465	2.68;2.69	5.85	4.77	0.60923	.	0.165435	0.53938	D	0.000050	T	0.10165	0.0249	L	0.38175	1.15	0.80722	D	1	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.11329	0.003;0.006;0.002	T	0.08659	-1.0711	10	0.08179	T	0.78	-9.052	11.3439	0.49548	0.9295:0.0:0.0705:0.0	.	558;811;811	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	A	811	ENSP00000326900:T811A;ENSP00000379144:T811A	ENSP00000326900:T811A	T	+	1	0	TNRC6A	24709895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.155000	0.64900	2.234000	0.73211	0.533000	0.62120	ACA		0.517	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		9	29	0	0	0	0	9	29				
NOD2	64127	broad.mit.edu	37	16	50733835	50733835	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:50733835C>T	ENST00000300589.2	+	2	615	c.510C>T	c.(508-510)atC>atT	p.I170I	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	170	CARD 2. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GTGATGAAATCAGGTTGCCGA	0.552																																						uc002egm.1		NA																	0				ovary(3)|skin(1)	4						c.(508-510)ATC>ATT		nucleotide-binding oligomerization domain							77.0	65.0	69.0					16																	50733835		2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50733835C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.510C>T	16.37:g.50733835C>T						NOD2_uc010cbj.1_Silent_p.I143I|NOD2_uc010cbk.1_Silent_p.I143I|NOD2_uc002egl.1_5'UTR	p.I170I	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			2	615	+		all_cancers(37;0.0156)	170			CARD 2.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.510C>T	CCDS10746.1																																																																																				0.552	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		19	41	0	0	0	0	19	41				
RANBP10	57610	broad.mit.edu	37	16	67778258	67778258	+	Silent	SNP	G	G	A	rs373521031		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:67778258G>A	ENST00000317506.3	-	4	616	c.501C>T	c.(499-501)gaC>gaT	p.D167D	RANBP10_ENST00000411657.2_Silent_p.D50D|RANBP10_ENST00000602677.1_Silent_p.D167D|RANBP10_ENST00000536251.1_De_novo_Start_OutOfFrame|RANBP10_ENST00000425512.2_Silent_p.D35D|RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000448631.2_Intron	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	167	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		AGCCGATCACGTCTCCTGTGG	0.547																																						uc002eud.2		NA																	0				ovary(1)	1						c.(499-501)GAC>GAT		RAN binding protein 10		G		0,4396		0,0,2198	201.0	137.0	158.0		501	-0.3	1.0	16		158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RANBP10	NM_020850.1		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		167/621	67778258	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	57610							g.chr16:67778258G>A	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.501C>T	16.37:g.67778258G>A						RANBP10_uc010ceo.2_Translation_Start_Site|RANBP10_uc010vju.1_Intron|RANBP10_uc010vjv.1_Silent_p.D50D|RANBP10_uc010vjx.1_Silent_p.D167D|RANBP10_uc010vjy.1_Silent_p.D35D	p.D167D	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	4	617	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	167			B30.2/SPRY.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Silent	SNP	ENST00000317506.3	37	c.501C>T	CCDS32469.1																																																																																				0.547	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		19	79	0	0	0	0	19	79				
CENPT	80152	broad.mit.edu	37	16	67860602	67860602	+	IGR	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:67860602C>A	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000388833.3_Missense_Mutation_p.T416K|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.T470K|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.T401K	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CAGAAAGAGACGTTCCCAGAT	0.493																																						uc002euj.2		NA																	0					0						c.(1246-1248)ACG>AAG		translin-associated factor X interacting protein							91.0	96.0	94.0					16																	67860602		2198	4300	6498	SO:0001628	intergenic_variant	55815				cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		g.chr16:67860602C>A	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			16.37:g.67860602C>A						TSNAXIP1_uc010vjz.1_Missense_Mutation_p.T293K|TSNAXIP1_uc002euf.3_Missense_Mutation_p.T149K|TSNAXIP1_uc010vka.1_Missense_Mutation_p.T470K|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.T401K|TSNAXIP1_uc002eug.3_Missense_Mutation_p.T124K|TSNAXIP1_uc002euh.3_Missense_Mutation_p.T124K|TSNAXIP1_uc002eui.3_Missense_Mutation_p.T124K|TSNAXIP1_uc002euk.2_Missense_Mutation_p.T149K	p.T416K	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)	12	1641	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	416					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.1247C>A	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.917012	0.00503	.	.	ENSG00000102904	ENST00000415766;ENST00000388833;ENST00000431934	.	.	.	5.65	-2.94	0.05581	.	1.222130	0.05498	N	0.557925	T	0.12305	0.0299	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B;B	0.09022	0.002;0.0;0.0;0.0;0.0;0.002	B;B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.001;0.002	T	0.32268	-0.9913	9	0.02654	T	1	-0.6825	8.1943	0.31387	0.3449:0.5125:0.1426:0.0	.	401;470;206;124;416;401	E7ENJ7;B4DXD0;B4DY78;Q2TAA8-2;Q2TAA8;B4E1H3	.;.;.;.;TXIP1_HUMAN;.	K	401;416;206	.	ENSP00000373485:T416K	T	+	2	0	TSNAXIP1	66418103	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	0.016000	0.13377	-0.891000	0.03940	-1.193000	0.01689	ACG		0.493	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		42	83	1	0	3.43e-23	4.36e-23	42	83				
COG4	25839	broad.mit.edu	37	16	70548314	70548314	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:70548314C>A	ENST00000323786.5	-	4	489	c.468G>T	c.(466-468)gaG>gaT	p.E156D	COG4_ENST00000564653.1_Missense_Mutation_p.E156D|COG4_ENST00000393612.4_Missense_Mutation_p.E152D	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	152					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CTGCAGCCTGCTCATAATCTT	0.507																																						uc002ezc.2		NA																	0					0						c.(466-468)GAG>GAT		component of oligomeric golgi complex 4							109.0	92.0	98.0					16																	70548314		2198	4300	6498	SO:0001583	missense	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70548314C>A	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.468G>T	16.37:g.70548314C>A	ENSP00000315775:p.Glu156Asp					COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.E156D|COG4_uc002eze.2_5'UTR	p.E156D	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN			4	479	-		Ovarian(137;0.0694)	152			Interacts with STX5.		B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	c.468G>T	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165765	0.78339	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612;ENST00000534772	T;T;T	0.45276	0.9;0.9;0.9	5.51	2.41	0.29592	.	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	M	0.75615	2.305	0.58432	D	0.999999	D;D	0.89917	0.995;1.0	P;D	0.91635	0.847;0.999	T	0.60209	-0.7308	10	0.87932	D	0	-19.7913	9.8633	0.41127	0.0:0.7026:0.0:0.2974	.	151;152	Q6PIW8;Q9H9E3	.;COG4_HUMAN	D	156;152;152;79	ENSP00000315775:E156D;ENSP00000377236:E152D;ENSP00000461912:E79D	ENSP00000315775:E156D	E	-	3	2	COG4	69105815	0.944000	0.32072	1.000000	0.80357	0.991000	0.79684	0.063000	0.14410	0.252000	0.21531	0.561000	0.74099	GAG		0.507	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			11	50	1	0	3.07e-06	3.66e-06	11	50				
HP	3240	broad.mit.edu	37	16	72094609	72094609	+	Silent	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:72094609A>G	ENST00000355906.5	+	7	1099	c.1041A>G	c.(1039-1041)caA>caG	p.Q347Q	HP_ENST00000562526.1_3'UTR|HPR_ENST00000356967.5_Intron|HP_ENST00000570083.1_Silent_p.Q288Q|HP_ENST00000565574.1_Silent_p.Q288Q|HP_ENST00000357763.4_Silent_p.Q383Q|HP_ENST00000398131.2_Silent_p.Q288Q|HPR_ENST00000540303.2_5'Flank|HPR_ENST00000561690.1_5'Flank	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	347	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		CTAAGTACCAAGAAGACACCT	0.537																																						uc002fbr.3		NA																	0					0						c.(1039-1041)CAA>CAG		haptoglobin isoform 1 preproprotein							157.0	151.0	153.0					16																	72094609		2070	4214	6284	SO:0001819	synonymous_variant	3240				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72094609A>G		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.1041A>G	16.37:g.72094609A>G						TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.2_Silent_p.Q288Q|HP_uc002fbt.3_Silent_p.Q288Q|HP_uc002fbu.1_Silent_p.Q85Q|HP_uc002fbv.3_Silent_p.Q258Q|HP_uc002fbw.3_Silent_p.Q169Q|HP_uc002fbx.3_Silent_p.Q169Q|HPR_uc002fby.2_5'Flank	p.Q347Q	NM_005143	NP_005134	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	7	1085	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	347			Peptidase S1.		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Silent	SNP	ENST00000355906.5	37	c.1041A>G	CCDS45524.1																																																																																				0.537	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	NM_005143		8	115	0	0	0	0	8	115				
TUBB3	10381	broad.mit.edu	37	16	90001910	90001910	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:90001910G>T	ENST00000315491.7	+	4	1174	c.1051G>T	c.(1051-1053)Gtg>Ttg	p.V351L	TUBB3_ENST00000556922.1_Missense_Mutation_p.V698L|TUBB3_ENST00000554444.1_Missense_Mutation_p.V279L|TUBB3_ENST00000304984.5_Missense_Mutation_p.V279L|TUBB3_ENST00000555576.1_Intron	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	351					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	CAACGTGAAGGTGGCCGTGTG	0.612																																						uc002fph.1		NA																	0				ovary(2)|pancreas(1)	3						c.(1051-1053)GTG>TTG		tubulin, beta, 4							188.0	158.0	168.0					16																	90001910		2198	4300	6498	SO:0001583	missense	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:90001910G>T	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.1051G>T	16.37:g.90001910G>T	ENSP00000320295:p.Val351Leu					TUBB3_uc002fpf.2_Missense_Mutation_p.V698L|TUBB3_uc010ciz.1_Missense_Mutation_p.V279L|TUBB3_uc002fpg.1_Missense_Mutation_p.V205L|TUBB3_uc002fpi.1_Missense_Mutation_p.V279L|TUBB3_uc002fpj.1_Missense_Mutation_p.V279L|TUBB3_uc010cjb.1_Missense_Mutation_p.V205L|TUBB3_uc002fpk.1_Missense_Mutation_p.V205L	p.V351L	NM_006086	NP_006077	Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	4	1116	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	351					A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	37	c.1051G>T	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527343	0.27299	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000554444;ENST00000315491	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	4.66	4.66	0.58398	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.51477	D	0.000099	D	0.83945	0.5364	L	0.58583	1.82	0.38078	D	0.936581	B;B	0.21905	0.005;0.062	B;B	0.37304	0.117;0.246	T	0.81625	-0.0848	9	.	.	.	.	17.5117	0.87762	0.0:0.0:1.0:0.0	.	351;351	Q13509;B2RBD5	TBB3_HUMAN;.	L	698;351;279;279;351	ENSP00000451560:V698L;ENSP00000302777:V279L;ENSP00000451617:V279L;ENSP00000320295:V351L	.	V	+	1	0	RP11-566K11.2;TUBB3	88529411	0.985000	0.35326	1.000000	0.80357	0.954000	0.61252	0.773000	0.26661	2.313000	0.78055	0.561000	0.74099	GTG		0.612	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		15	250	1	0	0.000308642	0.000347731	15	250				
YWHAE	7531	broad.mit.edu	37	17	1268247	1268247	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:1268247C>A	ENST00000264335.8	-	2	437	c.170G>T	c.(169-171)aGa>aTa	p.R57I	YWHAE_ENST00000575977.1_Missense_Mutation_p.R57I|YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.R35I	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	57		Interaction with phosphoserine on interacting protein.			apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CCAGGAGGCTCTTCTAGCTCC	0.423			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															uc002fsj.2		NA		Dom	yes		17	17p13.3	7531		"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes		M					0				lung(2)|ovary(1)	3						c.(169-171)AGA>ATA		tyrosine 3/tryptophan 5 -monooxygenase							211.0	191.0	198.0					17																	1268247		2203	4300	6503	SO:0001583	missense	7531				apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1268247C>A	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.170G>T	17.37:g.1268247C>A	ENSP00000264335:p.Arg57Ile					YWHAE_uc002fsk.2_Missense_Mutation_p.R35I|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_RNA	p.R57I	NM_006761	NP_006752	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	2	322	-			57				Interaction with phosphoserine on interacting protein.	B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	ENST00000264335.8	37	c.170G>T	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076063	0.94000	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.76448	-1.02	5.28	5.28	0.74379	14-3-3 domain (4);	0.000000	0.85682	U	0.000000	D	0.92648	0.7664	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95211	0.8325	10	0.87932	D	0	-16.9448	16.4418	0.83903	0.0:1.0:0.0:0.0	.	57	P62258	1433E_HUMAN	I	57;35	ENSP00000264335:R57I	ENSP00000264335:R57I	R	-	2	0	YWHAE	1214997	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.771000	0.85420	2.469000	0.83416	0.557000	0.71058	AGA		0.423	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		5	142	1	0	3.6e-05	4.19e-05	5	142				
MYH1	4619	broad.mit.edu	37	17	10395815	10395815	+	Missense_Mutation	SNP	C	C	T	rs200090517		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:10395815C>T	ENST00000226207.5	-	40	5832	c.5738G>A	c.(5737-5739)cGg>cAg	p.R1913Q	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1913					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AATGTCAGCCCGTTCCTCGGC	0.483																																						uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(5737-5739)CGG>CAG		myosin, heavy chain 1, skeletal muscle, adult							167.0	153.0	157.0					17																	10395815		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10395815C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5738G>A	17.37:g.10395815C>T	ENSP00000226207:p.Arg1913Gln					uc002gml.1_Intron	p.R1913Q	NM_005963	NP_005954	P12882	MYH1_HUMAN			40	5832	-			1913			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5738G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273707	0.80580	.	.	ENSG00000109061	ENST00000226207	D	0.83250	-1.7	4.63	3.65	0.41850	Myosin tail (1);	0.000000	0.35124	U	0.003425	D	0.94315	0.8173	H	0.98155	4.16	0.43149	D	0.994913	D	0.89917	1.0	D	0.97110	1.0	D	0.96579	0.9429	10	0.87932	D	0	.	15.1911	0.73044	0.0:0.8583:0.1416:0.0	.	1913	P12882	MYH1_HUMAN	Q	1913	ENSP00000226207:R1913Q	ENSP00000226207:R1913Q	R	-	2	0	MYH1	10336540	0.978000	0.34361	0.995000	0.50966	0.475000	0.33008	7.568000	0.82369	1.279000	0.44446	-0.165000	0.13383	CGG		0.483	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		4	165	0	0	0	0	4	165				
GOSR1	9527	broad.mit.edu	37	17	28849344	28849344	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:28849344G>A	ENST00000225724.5	+	9	773	c.701G>A	c.(700-702)gGg>gAg	p.G234E	GOSR1_ENST00000451249.2_Missense_Mutation_p.G232E|GOSR1_ENST00000467337.2_Missense_Mutation_p.G169E|GOSR1_ENST00000581721.1_Missense_Mutation_p.G220E	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	234					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						CTCATCCTAGGGGGTGTTATT	0.498																																						uc002hfe.2		NA																	0					0						c.(700-702)GGG>GAG		golgi SNAP receptor complex member 1 isoform 1							253.0	257.0	256.0					17																	28849344		2203	4300	6503	SO:0001583	missense	9527				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity	g.chr17:28849344G>A	AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"""golgi integral membrane protein 2"""	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.701G>A	17.37:g.28849344G>A	ENSP00000225724:p.Gly234Glu					GOSR1_uc002hfd.2_Missense_Mutation_p.G232E|GOSR1_uc002hff.2_Missense_Mutation_p.G169E	p.G234E	NM_004871	NP_004862	O95249	GOSR1_HUMAN			9	727	+			234			Helical; Anchor for type IV membrane protein; (Potential).		J3KST5|O75392	Missense_Mutation	SNP	ENST00000225724.5	37	c.701G>A	CCDS11258.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178266	0.94846	.	.	ENSG00000108587	ENST00000225724;ENST00000451249;ENST00000414833	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.85405	0.5689	M	0.89214	3.015	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.979;0.984	D	0.86909	0.2059	9	0.87932	D	0	-15.8345	19.583	0.95478	0.0:0.0:1.0:0.0	.	234;232	O95249;E9PCW1	GOSR1_HUMAN;.	E	234;232;169	.	ENSP00000225724:G234E	G	+	2	0	GOSR1	25873470	1.000000	0.71417	0.966000	0.40874	0.940000	0.58332	9.142000	0.94618	2.873000	0.98535	0.563000	0.77884	GGG		0.498	GOSR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256208.2			8	395	0	0	0	0	8	395				
CCL23	6368	broad.mit.edu	37	17	34341417	34341417	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:34341417G>T	ENST00000591423.1	-	2	157	c.93C>A	c.(91-93)ttC>ttA	p.F31L	CCL23_ENST00000293280.2_Missense_Mutation_p.F31L|RP11-104J23.1_ENST00000588294.1_RNA|RP11-104J23.2_ENST00000590149.1_lincRNA	NM_145898.1	NP_665905.1	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	31				MLVTALGSQARVTKDAETEFMMSKLPLENPVLL -> HAFL LPLVPGPGHKRCRDRVHECQSFHWKIQYFW (in Ref. 1). {ECO:0000305}.	cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|negative regulation of C-C chemokine binding (GO:2001264)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGACATCATGAACTCTGTCT	0.483																																						uc002hkt.1		NA																	0					0						c.(91-93)TTC>TTA		small inducible cytokine A23 isoform CKbeta8	Treprostinil(DB00374)						105.0	94.0	98.0					17																	34341417		2203	4300	6503	SO:0001583	missense	6368				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding	g.chr17:34341417G>T	U58913	CCDS11305.1, CCDS59282.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000167236	ENSG00000274736		"""Chemokine ligands"", ""Endogenous ligands"""	10622	protein-coding gene	gene with protein product		602494	"""small inducible cytokine subfamily A (Cys-Cys), member 23"""	SCYA23		9104803, 10409433	Standard	XR_429910		Approved	Ckb-8, MPIF-1, MIP-3, CKb8	uc002hks.1	P55773	OTTHUMG00000188409	ENST00000591423.1:c.93C>A	17.37:g.34341417G>T	ENSP00000465954:p.Phe31Leu					CCL23_uc002hks.1_Missense_Mutation_p.F31L	p.F31L	NM_145898	NP_665905	P55773	CCL23_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	164	-		Ovarian(249;0.17)	31	MLVTALGSQARVTKDAETEFMMSKLPLENPVLL -> HAFL LPLVPGPGHKRCRDRVHECQSFHWKIQYFW (in Ref. 1).				B7ZKQ3|O00174|O75950|Q52LD4	Missense_Mutation	SNP	ENST00000591423.1	37	c.93C>A	CCDS59282.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.369197	0.01225	.	.	ENSG00000167236	ENST00000293280	T	0.03242	4.0	2.6	-0.899	0.10547	.	.	.	.	.	T	0.01976	0.0062	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.46748	-0.9169	9	0.32370	T	0.25	.	3.3588	0.07178	0.1397:0.0:0.4147:0.4456	.	31;31	P55773;P55773-2	CCL23_HUMAN;.	L	31	ENSP00000293280:F31L	ENSP00000293280:F31L	F	-	3	2	CCL23	31365530	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.287000	0.08388	-0.142000	0.11354	-0.463000	0.05309	TTC		0.483	CCL23-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450228.1	NM_005064, NM_145898		9	30	1	0	3.1e-07	3.76e-07	9	30				
MLLT6	4302	broad.mit.edu	37	17	36868952	36868952	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:36868952G>A	ENST00000325718.7	+	8	820	c.729G>A	c.(727-729)aaG>aaA	p.K243K	CTB-58E17.9_ENST00000579499.1_RNA|MLLT6_ENST00000378137.5_Silent_p.K243K	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	243					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGAGTCGAAAGGACAAAGAAC	0.592			T	MLL	AL																																	uc002hqi.3		NA		Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|prostate(1)|lung(1)|skin(1)	6						c.(727-729)AAG>AAA		myeloid/lymphoid or mixed-lineage leukemia							99.0	96.0	97.0					17																	36868952		2203	4300	6503	SO:0001819	synonymous_variant	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36868952G>A		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.729G>A	17.37:g.36868952G>A						MLLT6_uc010wdr.1_Silent_p.K243K|MLLT6_uc010cvm.1_Silent_p.K243K|MLLT6_uc002hqj.2_5'Flank	p.K243K	NM_005937	NP_005928	P55198	AF17_HUMAN			8	742	+	Breast(7;4.43e-21)		243					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Silent	SNP	ENST00000325718.7	37	c.729G>A	CCDS11327.1																																																																																				0.592	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		4	80	0	0	0	0	4	80				
KRTAP4-12	83755	broad.mit.edu	37	17	39280340	39280340	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:39280340T>C	ENST00000394014.1	-	1	79	c.35A>G	c.(34-36)gAc>gGc	p.D12G		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	12	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACAGCCCTGGTCAGAGCACAC	0.617																																						uc002hwa.2		NA																	0					0						c.(34-36)GAC>GGC		keratin associated protein 4-12							56.0	64.0	61.0					17																	39280340		2203	4297	6500	SO:0001583	missense	83755					keratin filament		g.chr17:39280340T>C	AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"""Keratin associated proteins"""	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.35A>G	17.37:g.39280340T>C	ENSP00000377582:p.Asp12Gly						p.D12G	NM_031854	NP_114060	Q9BQ66	KR412_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	80	-		Breast(137;0.000496)	12			31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		A3KMC5|Q495I0	Missense_Mutation	SNP	ENST00000394014.1	37	c.35A>G	CCDS32649.1	.	.	.	.	.	.	.	.	.	.	.	10.40	1.340923	0.24339	.	.	ENSG00000213416	ENST00000394014;ENST00000455597	T	0.00584	6.4	4.49	2.3	0.28687	.	1.446790	0.05191	N	0.503197	T	0.00784	0.0026	L	0.51914	1.62	0.24378	N	0.994805	B	0.12013	0.005	B	0.14578	0.011	T	0.49744	-0.8907	10	0.29301	T	0.29	.	7.1159	0.25416	0.0:0.196:0.0:0.804	.	12	Q9BQ66	KR412_HUMAN	G	12	ENSP00000377582:D12G	ENSP00000377582:D12G	D	-	2	0	KRTAP4-12	36533866	0.001000	0.12720	0.750000	0.31169	0.356000	0.29392	-1.299000	0.02754	0.871000	0.35750	0.374000	0.22700	GAC		0.617	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			23	108	0	0	0	0	23	108				
TCEB3CL	728929	broad.mit.edu	37	18	44549224	44549224	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr18:44549224G>A	ENST00000451265.1	-	1	1310	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	359	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|lung(1)|prostate(1)	3						ACCGAGTAGGGGACCCCTTCC	0.637																																						uc010dnr.2		NA																	0					0						c.(1075-1077)CCC>TCC		transcription elongation factor B polypeptide							185.0	160.0	169.0					18																	44549224		1670	3329	4999	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44549224G>A			18q21.1	2007-07-10				ENSG00000275553			31007	protein-coding gene	gene with protein product							Standard	NM_001100817		Approved	HsT828		Q3SY89		ENST00000451265.1:c.1075C>T	18.37:g.44549224G>A	ENSP00000409932:p.Pro359Ser					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.P359S	NM_001100817	NP_001094287	Q8NG57	ELOA3_HUMAN			1	1075	-			359			Activation domain (By similarity).		Q3MI93	Missense_Mutation	SNP	ENST00000451265.1	37	c.1075C>T	CCDS42433.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689271	0.48097	.	.	ENSG00000234298	ENST00000451265	T	0.60424	0.19	1.5	1.5	0.22942	.	0.000000	0.50627	D	0.000117	T	0.70141	0.3190	M	0.74881	2.28	0.24421	N	0.99462	D	0.89917	1.0	D	0.80764	0.994	T	0.57957	-0.7721	10	0.52906	T	0.07	-20.4433	9.0163	0.36173	0.0:0.0:1.0:0.0	.	359	Q3SY89	EA3L1_HUMAN	S	359	ENSP00000409932:P359S	ENSP00000409932:P359S	P	-	1	0	TCEB3CL	42803222	0.968000	0.33430	0.002000	0.10522	0.003000	0.03518	3.985000	0.56930	1.166000	0.42689	0.556000	0.70494	CCC		0.637	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451071.1	XM_001132059		9	546	0	0	0	0	9	546				
SERPINB11	89778	broad.mit.edu	37	18	61390542	61390542	+	RNA	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr18:61390542C>T	ENST00000382749.5	+	0	1333				SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CCAATGAGAGCTCAGTTCAAG	0.517																																					Ovarian(27;496 784 5942 8975 23930)	uc002ljk.3		NA																	0				breast(1)	1						c.(1087-1089)GCT>GTT		serpin peptidase inhibitor, clade B, member 11							113.0	108.0	110.0					18																	61390542		2196	4299	6495			89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61390542C>T			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61390542C>T						SERPINB11_uc010xes.1_Missense_Mutation_p.A188V|SERPINB11_uc010dqd.2_Intron|SERPINB11_uc002ljj.3_Missense_Mutation_p.A249V|SERPINB11_uc010dqe.2_Missense_Mutation_p.A162V|SERPINB11_uc010dqf.2_Missense_Mutation_p.A161V	p.A363V	NM_080475	NP_536723	Q96P15	SPB11_HUMAN			9	1150	+		Esophageal squamous(42;0.129)	363			RCL (By similarity).		A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	ENST00000382749.5	37	c.1088C>T		.	.	.	.	.	.	.	.	.	.	C	6.422	0.446055	0.12164	.	.	ENSG00000206072	ENST00000544088;ENST00000538847;ENST00000536691	D;D;D	0.82984	-1.67;-1.67;-1.67	5.21	-1.96	0.07525	Serpin domain (3);	0.926652	0.09032	N	0.858674	T	0.62732	0.2452	N	0.12422	0.21	0.09310	N	1	B;B;B;B	0.29432	0.001;0.01;0.244;0.01	B;B;B;B	0.22753	0.005;0.005;0.041;0.004	T	0.47328	-0.9126	10	0.12103	T	0.63	.	9.5881	0.39528	0.6243:0.2937:0.0:0.082	.	188;161;276;363	F5GWT8;F5GY69;Q96P15-2;Q96P15	.;.;.;SPB11_HUMAN	V	363;161;188	ENSP00000441497:A363V;ENSP00000440795:A161V;ENSP00000441708:A188V	ENSP00000421854:A363V	A	+	2	0	SERPINB11	59541522	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	-1.300000	0.02751	-0.090000	0.12462	-0.182000	0.12963	GCT		0.517	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		29	66	0	0	0	0	29	66				
EMR1	2015	broad.mit.edu	37	19	6926416	6926416	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:6926416T>G	ENST00000312053.4	+	16	2063	c.2026T>G	c.(2026-2028)Ttc>Gtc	p.F676V	EMR1_ENST00000381407.5_Missense_Mutation_p.F535V|EMR1_ENST00000450315.3_Missense_Mutation_p.F499V|EMR1_ENST00000250572.8_Missense_Mutation_p.F611V|EMR1_ENST00000381404.4_Missense_Mutation_p.F624V	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	676					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GCACTACCTTTTCCTTGCCTG	0.517																																						uc002mfw.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(2026-2028)TTC>GTC		egf-like module containing, mucin-like, hormone							169.0	156.0	160.0					19																	6926416		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6926416T>G	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2026T>G	19.37:g.6926416T>G	ENSP00000311545:p.Phe676Val					EMR1_uc010dvc.2_Missense_Mutation_p.F611V|EMR1_uc010dvb.2_Missense_Mutation_p.F624V|EMR1_uc010xji.1_Missense_Mutation_p.F535V|EMR1_uc010xjj.1_Missense_Mutation_p.F499V	p.F676V	NM_001974	NP_001965	Q14246	EMR1_HUMAN			16	2064	+	all_hematologic(4;0.166)		676			Helical; Name=3; (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.2026T>G	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	t	18.31	3.595453	0.66219	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.18	4.18	0.49190	GPCR, family 2-like (1);	.	.	.	.	T	0.59197	0.2176	M	0.75264	2.295	0.31116	N	0.709412	D;D;D;D;D	0.71674	0.989;0.998;0.972;0.998;0.998	P;D;P;D;D	0.71656	0.744;0.942;0.797;0.974;0.947	T	0.63102	-0.6712	9	0.87932	D	0	.	6.3162	0.21192	0.0:0.1141:0.0:0.8859	.	499;535;611;624;676	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	V	611;676;624;611;535;499	ENSP00000311545:F676V;ENSP00000370811:F624V;ENSP00000250572:F611V;ENSP00000370814:F535V;ENSP00000405974:F499V	ENSP00000250572:F611V	F	+	1	0	EMR1	6877416	1.000000	0.71417	0.869000	0.34112	0.989000	0.77384	4.501000	0.60393	1.521000	0.48983	0.477000	0.44152	TTC		0.517	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			16	78	0	0	0	0	16	78				
FCER2	2208	broad.mit.edu	37	19	7754314	7754314	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:7754314T>G	ENST00000346664.5	-	11	943	c.731A>C	c.(730-732)aAc>aCc	p.N244T	FCER2_ENST00000597921.1_Missense_Mutation_p.N244T|FCER2_ENST00000360067.4_Missense_Mutation_p.N243T	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	244	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						TGGAGCCCAGTTGCTGGAGCA	0.667																																						uc002mhn.2		NA																	0					0						c.(730-732)AAC>ACC		Fc fragment of IgE, low affinity II, receptor							5.0	6.0	6.0					19																	7754314		2028	4049	6077	SO:0001583	missense	2208				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding	g.chr19:7754314T>G	M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"""C-type lectin domain containing"", ""CD molecules"""	3612	protein-coding gene	gene with protein product		151445	"""Fc fragment of IgE, low affinity II, receptor for (CD23A)"""	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.731A>C	19.37:g.7754314T>G	ENSP00000264072:p.Asn244Thr					FCER2_uc010xjs.1_Missense_Mutation_p.N166T|FCER2_uc010xjt.1_Missense_Mutation_p.N166T|FCER2_uc002mhm.2_Missense_Mutation_p.N244T	p.N244T	NM_002002	NP_001993	P06734	FCER2_HUMAN			11	915	-			244			C-type lectin.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000346664.5	37	c.731A>C	CCDS12184.1	.	.	.	.	.	.	.	.	.	.	T	9.818	1.185111	0.21870	.	.	ENSG00000104921	ENST00000346664;ENST00000360067	T;T	0.23950	1.88;1.88	3.67	3.67	0.42095	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.46678	0.1405	M	0.76170	2.325	0.29682	N	0.841618	D	0.89917	1.0	D	0.87578	0.998	T	0.37337	-0.9710	9	0.33940	T	0.23	.	8.7437	0.34573	0.0:0.0:0.0:1.0	.	244	P06734	FCER2_HUMAN	T	244;243	ENSP00000264072:N244T;ENSP00000353178:N243T	ENSP00000264072:N244T	N	-	2	0	FCER2	7660314	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	3.918000	0.56432	1.295000	0.44724	0.392000	0.25879	AAC		0.667	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461832.1	NM_002002		2	7	0	0	0	0	2	7				
CLEC4G	339390	broad.mit.edu	37	19	7794310	7794310	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:7794310T>C	ENST00000328853.5	-	9	892	c.824A>G	c.(823-825)gAc>gGc	p.D275G	CLEC4G_ENST00000598081.1_5'Flank	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	275	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						ACACGGTGCGTCGTTCCACAG	0.632																																					Esophageal Squamous(146;540 1807 3349 19438 30853)	uc002mhp.3		NA																	0					0						c.(823-825)GAC>GGC		C-type lectin domain family 4, member G							68.0	57.0	61.0					19																	7794310		2203	4300	6503	SO:0001583	missense	339390					integral to membrane	protein binding|sugar binding	g.chr19:7794310T>C	AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"""C-type lectin domain containing"""	24591	protein-coding gene	gene with protein product			"""C-type lectin superfamily 4, member G"""			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.824A>G	19.37:g.7794310T>C	ENSP00000327599:p.Asp275Gly						p.D275G	NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN			9	893	-			275			Extracellular (Potential).|C-type lectin.			Missense_Mutation	SNP	ENST00000328853.5	37	c.824A>G	CCDS12185.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055153	0.75960	.	.	ENSG00000182566	ENST00000328853;ENST00000381308	T	0.23950	1.88	5.45	5.45	0.79879	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.38164	N	0.001794	T	0.63885	0.2549	H	0.97158	3.95	0.40348	D	0.9791	D	0.89917	1.0	D	0.97110	1.0	T	0.76503	-0.2935	10	0.87932	D	0	.	11.9143	0.52757	0.0:0.0:0.0:1.0	.	275	Q6UXB4	CLC4G_HUMAN	G	275;159	ENSP00000327599:D275G	ENSP00000327599:D275G	D	-	2	0	CLEC4G	7700310	0.926000	0.31397	0.792000	0.32020	0.003000	0.03518	3.603000	0.54074	2.054000	0.61138	0.528000	0.53228	GAC		0.632	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	NM_198492		3	47	0	0	0	0	3	47				
ARRDC2	27106	broad.mit.edu	37	19	18119198	18119198	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:18119198G>A	ENST00000222250.4	+	1	222	c.79G>A	c.(79-81)Ggc>Agc	p.G27S	ARRDC2_ENST00000608009.1_Intron|ARRDC2_ENST00000379656.3_Intron	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	27					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GTTTAGCGGCGGCCAGGCCGT	0.726																																						uc002nhv.2		NA																	0				pancreas(1)	1						c.(79-81)GGC>AGC		arrestin domain containing 2 isoform 1							19.0	22.0	21.0					19																	18119198		2061	3993	6054	SO:0001583	missense	27106							g.chr19:18119198G>A		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.79G>A	19.37:g.18119198G>A	ENSP00000222250:p.Gly27Ser					ARRDC2_uc002nhu.2_Intron	p.G27S	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN			1	222	+			27					B2RBG9|O95895|Q6ZRV9|Q8WYG6	Missense_Mutation	SNP	ENST00000222250.4	37	c.79G>A	CCDS12370.1	.	.	.	.	.	.	.	.	.	.	G	36	5.764721	0.96906	.	.	ENSG00000105643	ENST00000222250	T	0.25912	1.77	3.65	3.65	0.41850	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62429	0.2427	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76457	-0.2952	10	0.87932	D	0	-14.7763	14.8969	0.70651	0.0:0.0:1.0:0.0	.	27	Q8TBH0	ARRD2_HUMAN	S	27	ENSP00000222250:G27S	ENSP00000222250:G27S	G	+	1	0	ARRDC2	17980198	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.450000	0.90340	2.067000	0.61834	0.549000	0.68633	GGC		0.726	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		8	26	0	0	0	0	8	26				
NUDT19	390916	broad.mit.edu	37	19	33200163	33200163	+	Missense_Mutation	SNP	G	G	A	rs149924778	byFrequency	TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:33200163G>A	ENST00000397061.3	+	2	787	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	263	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					ACAGTTCTACGAAGTGAGAAG	0.443													G|||	6	0.00119808	0.0038	0.0	5008	,	,		19140	0.0		0.0	False		,,,				2504	0.001					uc010edf.2		NA																	0					0						c.(787-789)GAA>AAA		nudix (nucleoside diphosphate linked moiety		G	LYS/GLU	11,3705		0,11,1847	197.0	186.0	190.0		787	4.9	0.9	19	dbSNP_134	190	1,8181		0,1,4090	yes	missense	NUDT19	NM_001105570.1	56	0,12,5937	AA,AG,GG		0.0122,0.296,0.1009	probably-damaging	263/376	33200163	12,11886	1858	4091	5949	SO:0001583	missense	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33200163G>A		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.787G>A	19.37:g.33200163G>A	ENSP00000380251:p.Glu263Lys						p.E263K	NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN			2	787	+	Esophageal squamous(110;0.137)		263			Nudix hydrolase.			Missense_Mutation	SNP	ENST00000397061.3	37	c.787G>A	CCDS42543.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	19.61	3.859843	0.71834	0.00296	1.22E-4	ENSG00000213965	ENST00000397061	T	0.07800	3.16	4.88	4.88	0.63580	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.000000	0.85682	U	0.000000	T	0.33990	0.0882	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.19614	-1.0300	10	0.56958	D	0.05	-18.8996	13.887	0.63714	0.0:0.0:1.0:0.0	.	263	A8MXV4	NUD19_HUMAN	K	263	ENSP00000380251:E263K	ENSP00000380251:E263K	E	+	1	0	NUDT19	37892003	1.000000	0.71417	0.931000	0.37212	0.496000	0.33645	5.129000	0.64739	2.405000	0.81733	0.591000	0.81541	GAA		0.443	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		11	234	0	0	0	0	11	234				
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:40367841T>G	ENST00000221347.6	-	29	13126	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4373	TIL 10.					extracellular vesicular exosome (GO:0070062)		p.A4373A(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627																																						uc002omp.3		NA																	2	Substitution - coding silent(2)		lung(1)|kidney(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(13117-13119)GCA>GCC		Fc fragment of IgG binding protein precursor							17.0	32.0	27.0					19																	40367841		2132	4018	6150	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40367841T>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13119A>C	19.37:g.40367841T>G							p.A4373A	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		29	13127	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4373			TIL 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.13119A>C	CCDS12546.1																																																																																				0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		11	24	0	0	0	0	11	24				
ATP1A3	478	broad.mit.edu	37	19	42471441	42471441	+	Silent	SNP	G	G	A	rs372919447		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:42471441G>A	ENST00000302102.5	-	22	3123	c.2973C>T	c.(2971-2973)taC>taT	p.Y991Y	ATP1A3_ENST00000545399.1_Silent_p.Y1004Y|ATP1A3_ENST00000602133.1_Silent_p.Y961Y|ATP1A3_ENST00000543770.1_Silent_p.Y1002Y	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	991					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGATTTCGTCGTAGACGAAGA	0.652																																						uc002osg.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2971-2973)TAC>TAT		Na+/K+ -ATPase alpha 3 subunit		G		1,4405	2.1+/-5.4	0,1,2202	41.0	41.0	41.0		2973	-3.5	0.9	19		41	0,8600		0,0,4300	no	coding-synonymous	ATP1A3	NM_152296.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		991/1014	42471441	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42471441G>A		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2973C>T	19.37:g.42471441G>A						ATP1A3_uc010xwf.1_Silent_p.Y1002Y|ATP1A3_uc010xwg.1_Silent_p.Y961Y|ATP1A3_uc010xwh.1_Silent_p.Y1004Y|ATP1A3_uc002osh.2_Silent_p.Y991Y	p.Y991Y	NM_152296	NP_689509	P13637	AT1A3_HUMAN			22	3127	-			991			Helical; (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP	ENST00000302102.5	37	c.2973C>T	CCDS12594.1																																																																																				0.652	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		22	29	0	0	0	0	22	29				
ARHGAP35	2909	broad.mit.edu	37	19	47423097	47423097	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:47423097G>C	ENST00000404338.3	+	1	1165	c.1165G>C	c.(1165-1167)Gat>Cat	p.D389H		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	389	FF 2.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GACCCCATGGGATGCCACCAG	0.448																																						uc010ekv.2		NA																	0				central_nervous_system(1)	1						c.(1165-1167)GAT>CAT		glucocorticoid receptor DNA binding factor 1							108.0	101.0	103.0					19																	47423097		1899	4137	6036	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47423097G>C	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1165G>C	19.37:g.47423097G>C	ENSP00000385720:p.Asp389His						p.D389H	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	1165	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	389			FF 2.		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.1165G>C	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716052	0.68844	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.08370	3.1	5.84	5.84	0.93424	.	0.046743	0.85682	D	0.000000	T	0.16811	0.0404	L	0.29908	0.895	0.80722	D	1	P	0.51147	0.942	P	0.55824	0.785	T	0.00200	-1.1927	10	0.66056	D	0.02	-31.1423	18.9266	0.92548	0.0:0.0:1.0:0.0	.	389	Q9NRY4-2	.	H	389	ENSP00000385720:D389H	ENSP00000324820:D389H	D	+	1	0	ARHGAP35	52114937	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.876000	0.87215	2.760000	0.94817	0.655000	0.94253	GAT		0.448	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		29	97	0	0	0	0	29	97				
CACNG8	59283	broad.mit.edu	37	19	54466493	54466493	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:54466493G>A	ENST00000270458.2	+	1	200	c.97G>A	c.(97-99)Ggc>Agc	p.G33S		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	33					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGCCGCCTTCGGCCTCATGAC	0.667																																						uc002qcs.1		NA																	0					0						c.(94-96)GGC>AGC		voltage-dependent calcium channel gamma-8							37.0	36.0	36.0					19																	54466493		2203	4300	6503	SO:0001583	missense	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54466493G>A	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.97G>A	19.37:g.54466493G>A	ENSP00000270458:p.Gly33Ser						p.G32S	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	1	200	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		33			Helical; (Potential).		Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	37	c.94G>A	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	G	9.256	1.042093	0.19748	.	.	ENSG00000142408	ENST00000270458	D	0.88354	-2.37	3.66	3.66	0.41972	.	0.069519	0.56097	U	0.000032	T	0.68238	0.2979	N	0.02916	-0.46	0.31427	N	0.6736	P	0.45396	0.857	B	0.33339	0.162	T	0.75780	-0.3197	9	0.11182	T	0.66	-3.4304	13.2311	0.59945	0.0:0.0:1.0:0.0	.	33	Q8WXS5	CCG8_HUMAN	S	33	ENSP00000270458:G33S	ENSP00000270458:G33S	G	+	1	0	CACNG8	59158305	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	1.980000	0.40618	1.778000	0.52293	0.297000	0.19635	GGC		0.667	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			9	23	0	0	0	0	9	23				
ZNF446	55663	broad.mit.edu	37	19	58991738	58991738	+	Missense_Mutation	SNP	C	C	T	rs375255776		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:58991738C>T	ENST00000594369.1	+	7	1379	c.998C>T	c.(997-999)aCg>aTg	p.T333M	ZNF446_ENST00000335841.4_Missense_Mutation_p.R305C|ZNF446_ENST00000596341.1_Missense_Mutation_p.T282M	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	333					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AAGCCCTACACGTGCGAGCAG	0.682																																						uc002qsz.2		NA																	0				ovary(1)	1						c.(997-999)ACG>ATG		zinc finger protein 446		T	MET/THR	1,4401		0,1,2200	23.0	20.0	21.0		998	-6.6	0.0	19		21	0,8594		0,0,4297	no	missense	ZNF446	NM_017908.2	81	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	benign	333/451	58991738	1,12995	2201	4297	6498	SO:0001583	missense	55663				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58991738C>T		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.998C>T	19.37:g.58991738C>T	ENSP00000472802:p.Thr333Met					ZNF446_uc002qta.2_Missense_Mutation_p.R305C|ZNF446_uc010eur.2_3'UTR|SLC27A5_uc002qtb.2_RNA	p.T333M	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	7	1115	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	333			C2H2-type 1.			Missense_Mutation	SNP	ENST00000594369.1	37	c.998C>T	CCDS12982.1	.	.	.	.	.	.	.	.	.	.	c	3.313	-0.140440	0.06669	2.27E-4	0.0	ENSG00000083838	ENST00000335841;ENST00000540481;ENST00000391694	.	.	.	3.62	-6.64	0.01801	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.504140	0.04503	N	0.381487	T	0.36580	0.0972	L	0.28556	0.865	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.34850	-0.9812	9	0.51188	T	0.08	-5.8323	14.5068	0.67758	0.0:0.1864:0.0:0.8136	.	333	Q9NWS9	ZN446_HUMAN	M	333;333;230	.	ENSP00000336565:T333M	T	+	2	0	ZNF446	63683550	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-5.815000	0.00096	-1.517000	0.01780	-2.041000	0.00417	ACG		0.682	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1	NM_017908		7	22	0	0	0	0	7	22				
XDH	7498	broad.mit.edu	37	2	31600014	31600014	+	Silent	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:31600014T>A	ENST00000379416.3	-	14	1380	c.1332A>T	c.(1330-1332)ccA>ccT	p.P444P		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	444					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CTGTGGTTCCTGGCTTGAATA	0.502																																					Colon(66;682 1445 30109 40147)	uc002rnv.1		NA																	0				skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(1330-1332)CCA>CCT		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						193.0	173.0	180.0					2																	31600014		2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31600014T>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1332A>T	2.37:g.31600014T>A							p.P444P	NM_000379	NP_000370	P47989	XDH_HUMAN			14	1411	-	Acute lymphoblastic leukemia(172;0.155)		444					Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.1332A>T	CCDS1775.1																																																																																				0.502	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		6	94	0	0	0	0	6	94				
SRD5A2	6716	broad.mit.edu	37	2	31805847	31805847	+	RNA	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:31805847G>A	ENST00000405650.1	-	0	289							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process (GO:0006702)|androgen metabolic process (GO:0008209)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|male gonad development (GO:0008584)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|sterol 5-alpha reductase activity (GO:0009917)					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)|Finasteride(DB01216)|Spironolactone(DB00421)	GTAGCCGCCGGCTTCAGGCTC	0.721																																						uc002rnw.1		NA																	0					0						c.(124-126)CCG>TCG		3-oxo-5 alpha-steroid 4-dehydrogenase 2	Azelaic Acid(DB00548)|Dutasteride(DB01126)						11.0	16.0	14.0					2																	31805847		1918	4091	6009			6716				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity	g.chr2:31805847G>A	M74047	CCDS74503.1	2p23.1	2013-01-31			ENSG00000049319	ENSG00000277893	1.3.99.5		11285	protein-coding gene	gene with protein product		607306				1522235	Standard	NM_000348		Approved		uc002rnw.1	P31213	OTTHUMG00000152057		2.37:g.31805847G>A							p.P42S	NM_000348	NP_000339	P31213	S5A2_HUMAN			2	195	-	Acute lymphoblastic leukemia(172;0.155)		42					B2RE87|Q2M1R4|Q9BYE6	Missense_Mutation	SNP	ENST00000405650.1	37	c.124C>T																																																																																					0.721	SRD5A2-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000325124.1	NM_000348		8	27	0	0	0	0	8	27				
CLHC1	130162	broad.mit.edu	37	2	55407665	55407666	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:55407665_55407666CT>AA	ENST00000401408.1	-	11	1709_1710	c.1364_1365AG>TT	c.(1363-1365)cAG>cTT	p.Q455L	CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406437.2_Missense_Mutation_p.Q6L|CLHC1_ENST00000406076.1_Missense_Mutation_p.Q333L|CLHC1_ENST00000407122.1_Missense_Mutation_p.Q455L	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	455																	AGTCCTTCAACTGCTGTATGTA	0.391																																						uc002ryi.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1363-1365)CAG>CTT		hypothetical protein LOC130162 isoform 1																																				SO:0001583	missense	130162						binding	g.chr2:55407665_55407666CT>AA		CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 63"""	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.1364_1365delinsAA	2.37:g.55407665_55407666delinsAA	ENSP00000384869:p.Gln455Leu					C2orf63_uc002ryh.2_Missense_Mutation_p.Q6L|C2orf63_uc002ryj.2_Missense_Mutation_p.Q333L	p.Q455L	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)		11	1710_1711	-			455					B2RDV1|Q53R93|Q8N403	Missense_Mutation	DNP	ENST00000401408.1	37	c.1364_1365AG>TT	CCDS33201.1																																																																																				0.391	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385		4	74	0	0	0	0	4	74				
CCDC88A	55704	broad.mit.edu	37	2	55539617	55539617	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:55539617C>G	ENST00000436346.1	-	23	4873	c.4032G>C	c.(4030-4032)caG>caC	p.Q1344H	AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.Q1343H|CCDC88A_ENST00000336838.6_Missense_Mutation_p.Q1343H|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.Q1344H|AC012358.8_ENST00000366287.4_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1344					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTCCATATTCTGCTCCAAAA	0.328																																						uc002ryv.2		NA																	0				ovary(2)|skin(2)	4						c.(4027-4029)CAG>CAC		coiled-coil domain containing 88A isoform 1							202.0	187.0	192.0					2																	55539617		2201	4298	6499	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55539617C>G	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.4032G>C	2.37:g.55539617C>G	ENSP00000410608:p.Gln1344His					CCDC88A_uc010yoz.1_Missense_Mutation_p.Q1344H|CCDC88A_uc010ypa.1_Missense_Mutation_p.Q1343H|CCDC88A_uc002ryu.2_Missense_Mutation_p.Q626H|CCDC88A_uc002rys.2_Missense_Mutation_p.Q329H|CCDC88A_uc002ryw.2_Missense_Mutation_p.Q627H|CCDC88A_uc010fby.1_Missense_Mutation_p.Q223H	p.Q1343H	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			23	4871	-			1344			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.4029G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.24|18.24	3.581118|3.581118	0.65992|0.65992	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000456975|ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576	.|T;T;T;T;T;T	.|0.57752	.|0.38;0.38;0.38;0.38;0.38;0.38	5.37|5.37	0.892|0.892	0.19230|0.19230	.|.	.|0.000000	.|0.45606	.|U	.|0.000356	T|T	0.67449|0.67449	0.2894|0.2894	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;0.998;0.997;1.0;0.999;0.998	.|D;D;D;D;D;D	.|0.80764	.|0.976;0.994;0.934;0.976;0.988;0.955	T|T	0.66396|0.66396	-0.5934|-0.5934	5|10	.|0.87932	.|D	.|0	-10.1456|-10.1456	8.5154|8.5154	0.33242|0.33242	0.0:0.626:0.0:0.374|0.0:0.626:0.0:0.374	.|.	.|1343;1344;1289;1344;1343;1343	.|B7ZM78;Q3V6T2-2;D6W5D1;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.|.;.;.;GRDN_HUMAN;.;.	Q|H	325|1343;1344;1344;389;1343;519	.|ENSP00000338728:Q1343H;ENSP00000263630:Q1344H;ENSP00000410608:Q1344H;ENSP00000390012:Q389H;ENSP00000404431:Q1343H;ENSP00000405080:Q519H	.|ENSP00000263630:Q1344H	E|Q	-|-	1|3	0|2	CCDC88A|CCDC88A	55393121|55393121	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.993000|0.993000	0.82548|0.82548	1.472000|1.472000	0.35376|0.35376	0.088000|0.088000	0.17205|0.17205	0.655000|0.655000	0.94253|0.94253	GAA|CAG		0.328	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		13	54	0	0	0	0	13	54				
ANKRD36	375248	broad.mit.edu	37	2	97845475	97845475	+	Splice_Site	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:97845475T>G	ENST00000461153.2	+	23	1878	c.1634T>G	c.(1633-1635)gTg>gGg	p.V545G	ANKRD36_ENST00000420699.2_Splice_Site_p.V545G			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	545										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TGCTTTTCAGTGTCTTCTCAG	0.299																																						uc010yva.1		NA																	0					0						c.(1633-1635)GTG>GGG		ankyrin repeat domain 36																																				SO:0001630	splice_region_variant	375248							g.chr2:97845475T>G	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1634-1T>G	2.37:g.97845475T>G						ANKRD36_uc010fic.2_Missense_Mutation_p.V264G|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_RNA|ANKRD36_uc002sxq.1_Intron	p.V545G	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			23	1878	+			545					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.1634T>G	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	10.26	1.301039	0.23650	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	T;T	0.76316	-1.01;-1.01	1.17	-2.35	0.06684	.	.	.	.	.	T	0.74665	0.3746	L	0.27053	0.805	0.09310	N	1	B;D	0.65815	0.347;0.995	B;D	0.79784	0.03;0.993	T	0.62872	-0.6762	8	.	.	.	.	4.1172	0.10088	0.4048:0.0:0.0:0.5952	.	545;12	A6QL64;Q5JPF3-3	AN36A_HUMAN;.	G	545	ENSP00000419530:V545G;ENSP00000391950:V545G	.	V	+	2	0	ANKRD36	97209202	0.792000	0.28813	0.001000	0.08648	0.040000	0.13550	0.357000	0.20199	-0.775000	0.04584	0.155000	0.16302	GTG		0.299	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5		Missense_Mutation	4	36	0	0	0	0	4	36				
SLC5A7	60482	broad.mit.edu	37	2	108625031	108625031	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:108625031G>T	ENST00000264047.2	+	8	1282	c.1006G>T	c.(1006-1008)Ggt>Tgt	p.G336C	SLC5A7_ENST00000540517.1_Missense_Mutation_p.G231C|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G336C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	336					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTCTTTCTTTGGTCTTGGTGC	0.443																																						uc002tdv.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1006-1008)GGT>TGT		solute carrier family 5 (choline transporter),	Choline(DB00122)						192.0	164.0	174.0					2																	108625031		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108625031G>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1006G>T	2.37:g.108625031G>T	ENSP00000264047:p.Gly336Cys					SLC5A7_uc010ywm.1_Missense_Mutation_p.G89C|SLC5A7_uc010fjj.2_Missense_Mutation_p.G336C|SLC5A7_uc010ywn.1_Missense_Mutation_p.G223C	p.G336C	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			8	1282	+			336			Helical; (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1006G>T	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909179	0.92107	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.87650	-2.28;-2.28;-2.28	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.94594	0.8258	M	0.87180	2.865	0.80722	D	1	D	0.63046	0.992	D	0.76071	0.987	D	0.94696	0.7878	10	0.66056	D	0.02	-19.2377	19.8024	0.96513	0.0:0.0:1.0:0.0	.	336	Q9GZV3	SC5A7_HUMAN	C	336;231;336	ENSP00000387346:G336C;ENSP00000445351:G231C;ENSP00000264047:G336C	ENSP00000264047:G336C	G	+	1	0	SLC5A7	107991463	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.813000	0.99286	2.752000	0.94435	0.655000	0.94253	GGT		0.443	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			9	39	1	0	0.00448238	0.00492025	9	39				
RANBP2	5903	broad.mit.edu	37	2	109383950	109383950	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:109383950C>G	ENST00000283195.6	+	20	7081	c.6955C>G	c.(6955-6957)Cta>Gta	p.L2319V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2319	RanBD1 3. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTACCTGATCTAGTTGAAGT	0.393																																						uc002tem.3		NA																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.(6955-6957)CTA>GTA		RAN binding protein 2							61.0	68.0	66.0					2																	109383950		2081	4185	6266	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109383950C>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6955C>G	2.37:g.109383950C>G	ENSP00000283195:p.Leu2319Val						p.L2319V	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	7081	+			2319			RanBD1 3.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.6955C>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971524	0.34754	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.30182	1.54	5.8	1.49	0.22878	Pleckstrin homology-type (1);Ran binding protein 1 (2);	.	.	.	.	T	0.38558	0.1045	L	0.39898	1.24	0.26236	N	0.97894	D	0.56968	0.978	P	0.60012	0.867	T	0.21484	-1.0244	9	0.33141	T	0.24	-13.9672	10.5539	0.45105	0.0:0.6459:0.0:0.3541	.	2319	P49792	RBP2_HUMAN	V	1343;2319	ENSP00000283195:L2319V	ENSP00000283195:L2319V	L	+	1	2	RANBP2	108750382	0.999000	0.42202	0.998000	0.56505	0.994000	0.84299	0.948000	0.29096	0.382000	0.24878	0.455000	0.32223	CTA		0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		102	164	0	0	0	0	102	164				
HOXD12	3238	broad.mit.edu	37	2	176964535	176964535	+	Silent	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:176964535T>C	ENST00000406506.2	+	1	78	c.6T>C	c.(4-6)tgT>tgC	p.C2C	HOXD12_ENST00000404162.2_Silent_p.C2C			P35452	HXD12_HUMAN	homeobox D12	2					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TGGAGATGTGTGAGCGCAGTC	0.542																																						uc010zev.1		NA																	0					0						c.(4-6)TGT>TGC		homeobox D12							100.0	106.0	104.0					2																	176964535		1909	4114	6023	SO:0001819	synonymous_variant	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964535T>C		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.6T>C	2.37:g.176964535T>C						HOXD12_uc010zew.1_Silent_p.C2C	p.C2C	NM_021193	NP_067016	P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	6	+			2					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Silent	SNP	ENST00000406506.2	37	c.6T>C	CCDS46456.1																																																																																				0.542	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		76	85	0	0	0	0	76	85				
TTN	7273	broad.mit.edu	37	2	179602873	179602873	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:179602873C>G	ENST00000591111.1	-	47	13580	c.13356G>C	c.(13354-13356)gaG>gaC	p.E4452D	TTN_ENST00000460472.2_Missense_Mutation_p.E4406D|TTN_ENST00000359218.5_Missense_Mutation_p.E4531D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4598D|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E4769D|TTN_ENST00000342992.6_Missense_Mutation_p.E3525D|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12208	Ig-like 24.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCATGTATACTCGCCGCAGT	0.453																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10573-10575)GAG>GAC		titin isoform N2-A							71.0	71.0	71.0					2																	179602873		1945	4142	6087	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179602873C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13356G>C	2.37:g.179602873C>G	ENSP00000465570:p.Glu4452Asp					TTN_uc010zfh.1_Missense_Mutation_p.E4598D|TTN_uc010zfi.1_Missense_Mutation_p.E4531D|TTN_uc010zfj.1_Missense_Mutation_p.E4406D|TTN_uc002umz.1_Missense_Mutation_p.E186D	p.E3525D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10799	-			4452					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.10575G>C		.	.	.	.	.	.	.	.	.	.	C	13.78	2.340130	0.41398	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.8	2.0	0.26442	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75766	0.3894	L	0.54965	1.715	0.23550	N	0.997437	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.63545	-0.6613	9	0.87932	D	0	.	10.4627	0.44590	0.0:0.638:0.0:0.362	.	4406;4531;4598;4452	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	3525;4406;4598;4531;4406	ENSP00000343764:E3525D;ENSP00000434586:E4406D;ENSP00000340554:E4598D;ENSP00000352154:E4531D	ENSP00000340554:E4598D	E	-	3	2	TTN	179311118	0.993000	0.37304	1.000000	0.80357	0.979000	0.70002	0.311000	0.19380	0.809000	0.34255	0.561000	0.74099	GAG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	65	0	0	0	0	11	65				
DIS3L2	129563	broad.mit.edu	37	2	233128057	233128057	+	Silent	SNP	C	C	T	rs374299868		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:233128057C>T	ENST00000409307.1	+	12	1566	c.1566C>T	c.(1564-1566)agC>agT	p.S522S	DIS3L2_ENST00000273009.6_Silent_p.S522S|DIS3L2_ENST00000325385.7_Silent_p.S522S					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AGCATAGCAGCGAGGAGGTAC	0.542																																						uc010fxz.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1564-1566)AGC>AGT		DIS3 mitotic control homolog (S.		C		0,4002		0,0,2001	94.0	97.0	96.0		1566	-1.8	0.1	2		96	1,8373		0,1,4186	no	coding-synonymous	DIS3L2	NM_152383.4		0,1,6187	TT,TC,CC		0.0119,0.0,0.0081		522/886	233128057	1,12375	2001	4187	6188	SO:0001819	synonymous_variant	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233128057C>T	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1566C>T	2.37:g.233128057C>T						DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	p.S522S	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	13	1842	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	522						Silent	SNP	ENST00000409307.1	37	c.1566C>T	CCDS42834.1																																																																																				0.542	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		14	59	0	0	0	0	14	59				
USP40	55230	broad.mit.edu	37	2	234465540	234465540	+	Missense_Mutation	SNP	C	C	G	rs367965995		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:234465540C>G	ENST00000427112.2	-	4	542	c.507G>C	c.(505-507)caG>caC	p.Q169H	USP40_ENST00000251722.6_Missense_Mutation_p.Q169H|USP40_ENST00000450966.1_Missense_Mutation_p.Q181H			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	169	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TACAAACAATCTGGTTAACAA	0.368																																						uc010zmu.1		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(505-507)CAG>CAC		SubName: Full=cDNA FLJ56772, highly similar to Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.1.2.15);							92.0	84.0	86.0					2																	234465540		1851	4100	5951	SO:0001583	missense	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234465540C>G	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.507G>C	2.37:g.234465540C>G	ENSP00000387898:p.Gln169His					USP40_uc010zmr.1_Missense_Mutation_p.Q181H	p.Q169H			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	5	625	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	169					Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	c.507G>C	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665966	0.29604	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000435959	T;T;T	0.31510	1.49;1.49;1.49	5.33	4.4	0.53042	.	0.397107	0.29444	N	0.012121	T	0.28400	0.0702	L	0.49699	1.58	0.40437	D	0.980006	B	0.27910	0.193	B	0.28232	0.087	T	0.07214	-1.0784	10	0.32370	T	0.25	.	12.5053	0.55977	0.1219:0.7445:0.1336:0.0	.	181	Q9NVE5-3	.	H	181;169;169;169	ENSP00000415434:Q181H;ENSP00000251722:Q169H;ENSP00000387898:Q169H	ENSP00000251722:Q169H	Q	-	3	2	USP40	234130279	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.650000	0.46665	2.498000	0.84270	0.655000	0.94253	CAG		0.368	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		10	39	0	0	0	0	10	39				
AGAP1	116987	broad.mit.edu	37	2	236877176	236877176	+	Silent	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:236877176G>C	ENST00000304032.8	+	13	2134	c.1554G>C	c.(1552-1554)ccG>ccC	p.P518P	AGAP1_ENST00000409538.1_Silent_p.P730P|AGAP1_ENST00000428334.2_Silent_p.P357P|AGAP1_ENST00000336665.5_Silent_p.P465P	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	518	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGCTCGACCCGCCCCCCTCCC	0.577																																						uc002vvs.2		NA																	0				ovary(2)|skin(1)	3						c.(1552-1554)CCG>CCC		centaurin, gamma 2 isoform 1							33.0	43.0	39.0					2																	236877176		2203	4300	6503	SO:0001819	synonymous_variant	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236877176G>C	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1554G>C	2.37:g.236877176G>C						AGAP1_uc002vvt.2_Silent_p.P465P	p.P518P	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN			13	2149	+			518			PH.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	ENST00000304032.8	37	c.1554G>C	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	9.768	1.171871	0.21704	.	.	ENSG00000157985	ENST00000448025;ENST00000418654	.	.	.	5.09	-1.83	0.07833	.	.	.	.	.	T	0.39911	0.1096	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32322	-0.9911	4	.	.	.	.	1.797	0.03063	0.1775:0.1584:0.3804:0.2837	.	.	.	.	P	152;46	.	.	A	+	1	0	AGAP1	236541915	0.077000	0.21312	0.999000	0.59377	0.997000	0.91878	-0.819000	0.04462	0.013000	0.14918	0.650000	0.86243	GCC		0.577	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		4	54	0	0	0	0	4	54				
NOP56	10528	broad.mit.edu	37	20	2636321	2636321	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:2636321A>G	ENST00000329276.5	+	7	1354	c.838A>G	c.(838-840)Agc>Ggc	p.S280G	SNORD56_ENST00000413522.1_RNA|SNORA51_ENST00000606420.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD110_ENST00000408189.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORD86_ENST00000391196.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	280					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						ATACCGCCAGAGCCTACACAC	0.512																																						uc002wgh.2		NA																	0				ovary(1)|pancreas(1)	2						c.(838-840)AGC>GGC		nucleolar protein 5A							147.0	142.0	144.0					20																	2636321		2203	4300	6503	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2636321A>G	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.838A>G	20.37:g.2636321A>G	ENSP00000370589:p.Ser280Gly					NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Missense_Mutation_p.S114G|NOP56_uc002wgm.1_Missense_Mutation_p.S27G|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank	p.S280G	NM_006392	NP_006383	O00567	NOP56_HUMAN			7	891	+			280			Nop.		Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.838A>G	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.880454	0.33255	.	.	ENSG00000101361	ENST00000329276;ENST00000381169	T	0.63913	-0.07	4.9	4.9	0.64082	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);	0.326287	0.38217	N	0.001763	T	0.63426	0.2510	M	0.87758	2.905	0.33926	D	0.641411	B;B	0.12630	0.002;0.006	B;B	0.15052	0.012;0.01	T	0.70103	-0.4964	10	0.45353	T	0.12	-12.1954	7.1826	0.25780	0.9026:0.0:0.0974:0.0	.	27;280	E9PDI8;O00567	.;NOP56_HUMAN	G	280;27	ENSP00000370589:S280G	ENSP00000370589:S280G	S	+	1	0	NOP56	2584321	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.077000	0.76814	2.040000	0.60383	0.459000	0.35465	AGC		0.512	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		19	160	0	0	0	0	19	160				
CENPB	1059	broad.mit.edu	37	20	3766487	3766487	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:3766487T>C	ENST00000379751.4	-	1	850	c.644A>G	c.(643-645)gAc>gGc	p.D215G	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	215					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CGGCCGTCCGTCGCCTCCGCA	0.711																																						uc002wjk.2		NA																	0					0						c.(643-645)GAC>GGC		centromere protein B							34.0	37.0	36.0					20																	3766487		2135	4130	6265	SO:0001583	missense	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3766487T>C	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.644A>G	20.37:g.3766487T>C	ENSP00000369075:p.Asp215Gly					CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	p.D215G	NM_001810	NP_001801	P07199	CENPB_HUMAN			1	851	-			215					Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	c.644A>G	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	t	0.479	-0.880607	0.02530	.	.	ENSG00000125817	ENST00000379751	T	0.43294	0.95	4.04	1.64	0.23874	.	.	.	.	.	T	0.30103	0.0754	N	0.14661	0.345	0.09310	N	1	P	0.36768	0.569	B	0.44133	0.442	T	0.24693	-1.0153	9	0.25106	T	0.35	-13.5972	9.293	0.37797	0.0:0.0:0.4204:0.5796	.	215	P07199	CENPB_HUMAN	G	215	ENSP00000369075:D215G	ENSP00000369075:D215G	D	-	2	0	CENPB	3714487	0.934000	0.31675	0.001000	0.08648	0.007000	0.05969	2.799000	0.47892	0.420000	0.25954	-0.663000	0.03849	GAC		0.711	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		14	144	0	0	0	0	14	144				
CENPB	1059	broad.mit.edu	37	20	3766501	3766501	+	Silent	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:3766501C>A	ENST00000379751.4	-	1	836	c.630G>T	c.(628-630)ggG>ggT	p.G210G	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	210					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CTCCGCACAGCCCCGCGGCCT	0.711																																						uc002wjk.2		NA																	0					0						c.(628-630)GGG>GGT		centromere protein B							37.0	40.0	39.0					20																	3766501		2103	4044	6147	SO:0001819	synonymous_variant	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3766501C>A	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.630G>T	20.37:g.3766501C>A						CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	p.G210G	NM_001810	NP_001801	P07199	CENPB_HUMAN			1	837	-			210					Q96EI4	Silent	SNP	ENST00000379751.4	37	c.630G>T	CCDS13064.1																																																																																				0.711	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		19	143	1	0	2.46e-09	3.02e-09	19	143				
SNTA1	6640	broad.mit.edu	37	20	32026759	32026759	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:32026759G>A	ENST00000217381.2	-	2	655	c.384C>T	c.(382-384)gcC>gcT	p.A128A		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	128	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CCACAAAAAGGGCCTCTGTCT	0.542																																						uc002wzd.1		NA																	0				skin(1)	1						c.(382-384)GCC>GCT		acidic alpha 1 syntrophin							135.0	130.0	132.0					20																	32026759		2203	4300	6503	SO:0001819	synonymous_variant	6640				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	g.chr20:32026759G>A	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.384C>T	20.37:g.32026759G>A						SNTA1_uc010zuf.1_Silent_p.A128A	p.A128A	NM_003098	NP_003089	Q13424	SNTA1_HUMAN			2	656	-			128			PH 1.|PDZ.		A8K7H9|B4DX40|E1P5N1|Q16438	Silent	SNP	ENST00000217381.2	37	c.384C>T	CCDS13220.1																																																																																				0.542	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098		5	305	0	0	0	0	5	305				
PTPRT	11122	broad.mit.edu	37	20	40710644	40710644	+	Missense_Mutation	SNP	G	G	T	rs144244064		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:40710644G>T	ENST00000373187.1	-	30	4149	c.4150C>A	c.(4150-4152)Cgt>Agt	p.R1384S	PTPRT_ENST00000373198.4_Missense_Mutation_p.R1403S|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1387S|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1374S|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1383S|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1393S|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1394S			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1384	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.R1406C(2)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTTCCACTACGGCCTCCCCCA	0.483																																						uc002xkg.2		NA																	2	Substitution - Missense(2)	p.R1406C(1)	skin(2)	skin(8)|ovary(7)|lung(5)	20						c.(4150-4152)CGT>AGT		protein tyrosine phosphatase, receptor type, T							121.0	120.0	120.0					20																	40710644		2067	4213	6280	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40710644G>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4150C>A	20.37:g.40710644G>T	ENSP00000362283:p.Arg1384Ser					PTPRT_uc010ggj.2_Missense_Mutation_p.R1403S|PTPRT_uc010ggi.2_Missense_Mutation_p.R587S	p.R1384S	NM_007050	NP_008981	O14522	PTPRT_HUMAN			30	4334	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1384			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.4150C>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	33	5.194979	0.94960	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.81517	0.4839	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84866	0.0822	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1406;1384	O14522-1;O14522	.;PTPRT_HUMAN	S	1383;1384;1387;1393;1406;1394;1374	ENSP00000362286:R1383S;ENSP00000362283:R1384S;ENSP00000362289:R1387S;ENSP00000348408:R1393S;ENSP00000362294:R1406S;ENSP00000362280:R1394S;ENSP00000362297:R1374S	ENSP00000348408:R1393S	R	-	1	0	PTPRT	40144058	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.965000	0.87945	2.884000	0.98904	0.655000	0.94253	CGT		0.483	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			5	171	1	0	5.94e-07	7.16e-07	5	171				
SGK2	10110	broad.mit.edu	37	20	42195754	42195754	+	Missense_Mutation	SNP	C	C	T	rs141029147		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:42195754C>T	ENST00000341458.4	+	2	482	c.263C>T	c.(262-264)cCa>cTa	p.P88L	SGK2_ENST00000423407.3_Missense_Mutation_p.P28L|SGK2_ENST00000426287.1_Missense_Mutation_p.P54L|SGK2_ENST00000373100.1_Missense_Mutation_p.P28L|SGK2_ENST00000373077.1_Missense_Mutation_p.P28L|SGK2_ENST00000373092.3_Missense_Mutation_p.P28L	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	88					intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCAGCCAACCCAAAGTGAGTT	0.512																																						uc002xkv.2		NA																	0				lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6						c.(262-264)CCA>CTA		serum/glucocorticoid regulated kinase 2 isoform		C	LEU/PRO,LEU/PRO,LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	111.0	112.0	112.0		83,263,83	3.6	1.0	20	dbSNP_134	112	0,8600		0,0,4300	no	missense,missense,missense	SGK2	NM_001199264.1,NM_016276.3,NM_170693.2	98,98,98	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	28/368,88/428,28/368	42195754	2,13004	2203	4300	6503	SO:0001583	missense	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42195754C>T	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.263C>T	20.37:g.42195754C>T	ENSP00000340608:p.Pro88Leu					SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.P28L|SGK2_uc010ggm.2_Missense_Mutation_p.P28L|SGK2_uc002xks.2_Missense_Mutation_p.P28L|SGK2_uc002xku.2_Missense_Mutation_p.P28L|SGK2_uc002xkq.1_Missense_Mutation_p.P28L	p.P88L	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		2	482	+		Myeloproliferative disorder(115;0.00452)	88					Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	c.263C>T	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.071568	0.55646	4.54E-4	0.0	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.72505	-0.61;-0.61;-0.59;-0.0;-0.61;-0.66;-0.62	4.59	3.64	0.41730	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	L	0.27053	0.805	0.80722	D	1	P;B;B	0.37636	0.603;0.351;0.37	B;B;B	0.39617	0.305;0.143;0.124	T	0.62558	-0.6829	10	0.66056	D	0.02	.	10.8149	0.46569	0.0:0.9042:0.0:0.0958	.	54;88;28	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	L	28;28;28;28;28;88;54	ENSP00000362192:P28L;ENSP00000362184:P28L;ENSP00000362168:P28L;ENSP00000396222:P28L;ENSP00000392795:P28L;ENSP00000340608:P88L;ENSP00000412214:P54L	ENSP00000340608:P88L	P	+	2	0	SGK2	41629168	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.181000	0.77682	1.232000	0.43678	0.609000	0.83330	CCA		0.512	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			4	76	0	0	0	0	4	76				
WFDC3	140686	broad.mit.edu	37	20	44416545	44416545	+	Silent	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:44416545T>C	ENST00000243938.4	-	4	371	c.288A>G	c.(286-288)ccA>ccG	p.P96P	WFDC3_ENST00000372630.2_Intron|WFDC3_ENST00000481847.1_5'UTR|WFDC3_ENST00000372632.2_Intron	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	96	WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				TCTTTACACCTGGACATGTCT	0.473																																						uc002xpf.1		NA																	0					0						c.(286-288)CCA>CCG		WAP four-disulfide core domain 3 precursor							184.0	144.0	158.0					20																	44416545		2203	4300	6503	SO:0001819	synonymous_variant	140686					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44416545T>C	AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"""WAP four-disulfide core domain containing"""	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.288A>G	20.37:g.44416545T>C						WFDC3_uc002xpj.1_RNA|WFDC3_uc002xph.1_RNA|WFDC3_uc010ghh.1_RNA	p.P96P	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN			4	372	-		Myeloproliferative disorder(115;0.0122)	96			WAP 2.		A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Silent	SNP	ENST00000243938.4	37	c.288A>G	CCDS33478.1	.	.	.	.	.	.	.	.	.	.	T	2.755	-0.259232	0.05791	.	.	ENSG00000124116	ENST00000337205	.	.	.	3.06	-0.458	0.12182	.	.	.	.	.	T	0.24661	0.0598	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28396	-1.0045	4	.	.	.	0.1432	5.6667	0.17698	0.0:0.4088:0.0:0.5912	.	.	.	.	R	90	.	.	Q	-	2	0	WFDC3	43849952	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	0.195000	0.17155	-0.127000	0.11661	-0.250000	0.11733	CAG		0.473	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1			14	133	0	0	0	0	14	133				
SLC9A8	23315	broad.mit.edu	37	20	48500552	48500552	+	Missense_Mutation	SNP	G	G	T	rs373012815		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:48500552G>T	ENST00000361573.2	+	14	1482	c.1440G>T	c.(1438-1440)aaG>aaT	p.K480N	SLC9A8_ENST00000417961.1_Missense_Mutation_p.K496N|SLC9A8_ENST00000539601.1_Missense_Mutation_p.K261N|SLC9A8_ENST00000541138.1_Missense_Mutation_p.K180N			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	480					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			AGGACGCCAAGGCACACCGCA	0.612																																						uc002xuv.1		NA																	0				ovary(1)	1						c.(1438-1440)AAG>AAT		sodium/hydrogen exchanger 8							178.0	137.0	151.0					20																	48500552		2203	4300	6503	SO:0001583	missense	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48500552G>T	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1440G>T	20.37:g.48500552G>T	ENSP00000354966:p.Lys480Asn					SLC9A8_uc010zym.1_Missense_Mutation_p.K180N|SLC9A8_uc010gic.2_Missense_Mutation_p.K180N|SLC9A8_uc010gid.2_Missense_Mutation_p.K104N	p.K480N	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		14	1650	+			480					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	c.1440G>T	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399560	0.25291	.	.	ENSG00000197818	ENST00000417961;ENST00000361573;ENST00000541138;ENST00000539601	T;T	0.64618	-0.11;-0.1	4.78	3.71	0.42584	.	0.203527	0.31872	N	0.006931	T	0.33177	0.0854	N	0.08118	0	0.41214	D	0.986467	B;B;B	0.11235	0.001;0.004;0.001	B;B;B	0.08055	0.001;0.003;0.003	T	0.18935	-1.0321	10	0.11485	T	0.65	.	5.6316	0.17514	0.3572:0.0:0.6428:0.0	.	180;261;480	B4DIV9;B4DIX7;Q9Y2E8	.;.;SL9A8_HUMAN	N	496;480;180;261	ENSP00000416418:K496N;ENSP00000354966:K480N	ENSP00000354966:K480N	K	+	3	2	SLC9A8	47933959	1.000000	0.71417	0.996000	0.52242	0.902000	0.53008	1.127000	0.31357	2.210000	0.71456	0.561000	0.74099	AAG		0.612	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		5	175	1	0	5.94e-07	7.16e-07	5	175				
NFATC2	4773	broad.mit.edu	37	20	50140072	50140072	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:50140072C>T	ENST00000396009.3	-	2	927	c.708G>A	c.(706-708)tcG>tcA	p.S236S	NFATC2_ENST00000414705.1_Silent_p.S216S|NFATC2_ENST00000610033.1_Silent_p.S17S|NFATC2_ENST00000609507.1_Silent_p.S17S|NFATC2_ENST00000371564.3_Silent_p.S236S|NFATC2_ENST00000609943.1_Silent_p.S216S	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	236	3 X approximate SP repeats.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGGGCACGGGCGAGTGGCGGC	0.667																																						uc002xwd.2		NA																	0				ovary(2)	2						c.(706-708)TCG>TCA		nuclear factor of activated T-cells,							38.0	47.0	44.0					20																	50140072		2166	4254	6420	SO:0001819	synonymous_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140072C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.708G>A	20.37:g.50140072C>T						NFATC2_uc002xwc.2_Silent_p.S236S|NFATC2_uc010zyv.1_Silent_p.S17S|NFATC2_uc010zyw.1_Silent_p.S17S|NFATC2_uc010zyx.1_Silent_p.S216S|NFATC2_uc010zyy.1_Silent_p.S17S|NFATC2_uc010zyz.1_Silent_p.S17S|NFATC2_uc002xwe.2_Silent_p.S216S	p.S236S	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			2	928	-	Hepatocellular(150;0.248)		236			3 X approximate SP repeats.		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.708G>A	CCDS13437.1																																																																																				0.667	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		22	200	0	0	0	0	22	200				
ZFP64	55734	broad.mit.edu	37	20	50705115	50705115	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:50705115G>A	ENST00000361387.2	-	8	1104	c.1044C>T	c.(1042-1044)caC>caT	p.H348H	ZFP64_ENST00000371518.2_Silent_p.H348H|ZFP64_ENST00000477786.1_5'Flank|ZFP64_ENST00000371523.4_Silent_p.H129H	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	305					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						GGCACCGCATGTGCATGGTCA	0.522																																						uc002xwk.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1042-1044)CAC>CAT		zinc finger protein 64 isoform d							135.0	114.0	121.0					20																	50705115		2203	4300	6503	SO:0001819	synonymous_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50705115G>A	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	ENST00000361387.2:c.1044C>T	20.37:g.50705115G>A						ZFP64_uc002xwj.2_Silent_p.H129H	p.H348H	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN			8	1393	-			305			C2H2-type 5.		Q9NTS7|Q9NVH4	Silent	SNP	ENST00000361387.2	37	c.1044C>T	CCDS13439.1	.	.	.	.	.	.	.	.	.	.	G	9.546	1.114641	0.20795	.	.	ENSG00000020256	ENST00000456175	D	0.86769	-2.17	4.49	4.49	0.54785	.	.	.	.	.	D	0.92525	0.7626	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.93643	0.6966	6	0.87932	D	0	.	17.7242	0.88360	0.0:0.0:1.0:0.0	.	.	.	.	Y	54	ENSP00000403424:H54Y	ENSP00000403424:H54Y	H	-	1	0	ZFP64	50138522	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.462000	0.66707	2.468000	0.83385	0.655000	0.94253	CAT		0.522	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	NM_018197		83	121	0	0	0	0	83	121				
TCFL5	10732	broad.mit.edu	37	20	61490757	61490757	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:61490757C>G	ENST00000335351.3	-	3	1045	c.953G>C	c.(952-954)aGa>aCa	p.R318T	TCFL5_ENST00000217162.5_Missense_Mutation_p.R270T	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	318					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					AACTTTGTTTCTACTACCTAA	0.443																																						uc002ydp.2		NA																	0				large_intestine(1)	1						c.(952-954)AGA>ACA		transcription factor-like 5 protein							206.0	209.0	208.0					20																	61490757		2203	4300	6503	SO:0001583	missense	10732				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:61490757C>G	AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.953G>C	20.37:g.61490757C>G	ENSP00000334294:p.Arg318Thr					TCFL5_uc002ydo.2_Missense_Mutation_p.R91T|TCFL5_uc002ydq.2_Missense_Mutation_p.R318T	p.R318T	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN			3	1046	-	Breast(26;5.68e-08)		318					O94771|Q9BYW0	Missense_Mutation	SNP	ENST00000335351.3	37	c.953G>C	CCDS13506.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374028	0.61735	.	.	ENSG00000101190	ENST00000335351;ENST00000217162	T;T	0.35421	1.33;1.31	4.7	4.7	0.59300	.	0.111739	0.40640	N	0.001047	T	0.47135	0.1429	L	0.34521	1.04	0.30308	N	0.78883	P;D	0.63880	0.879;0.993	B;D	0.72338	0.37;0.977	T	0.43669	-0.9377	10	0.40728	T	0.16	-6.999	13.9008	0.63802	0.1623:0.8377:0.0:0.0	.	270;318	F8W9A4;Q9UL49	.;TCFL5_HUMAN	T	318;270	ENSP00000334294:R318T;ENSP00000217162:R270T	ENSP00000217162:R270T	R	-	2	0	TCFL5	60961202	0.997000	0.39634	0.912000	0.35992	0.965000	0.64279	3.728000	0.54991	2.315000	0.78130	0.491000	0.48974	AGA		0.443	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602		35	329	0	0	0	0	35	329				
SYNJ1	8867	broad.mit.edu	37	21	34025655	34025655	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr21:34025655C>A	ENST00000322229.7	-	21	2816	c.2817G>T	c.(2815-2817)tgG>tgT	p.W939C	SYNJ1_ENST00000382499.2_Missense_Mutation_p.W978C|SYNJ1_ENST00000382491.3_Missense_Mutation_p.W934C|SYNJ1_ENST00000357345.3_Missense_Mutation_p.W939C|SYNJ1_ENST00000433931.2_Missense_Mutation_p.W978C			O43426	SYNJ1_HUMAN	synaptojanin 1	939	Pro-rich.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AAAATGTAACCCACATTTTAT	0.323																																						uc002yqh.2		NA																	0				ovary(4)|skin(1)	5						c.(2932-2934)TGG>TGT		synaptojanin 1 isoform a							69.0	67.0	68.0					21																	34025655		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34025655C>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.2817G>T	21.37:g.34025655C>A	ENSP00000322234:p.Trp939Cys					SYNJ1_uc011ads.1_Missense_Mutation_p.W934C|SYNJ1_uc002yqf.2_Missense_Mutation_p.W939C|SYNJ1_uc002yqg.2_Missense_Mutation_p.W934C|SYNJ1_uc002yqi.2_Missense_Mutation_p.W978C	p.W978C	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			22	2934	-			939			RRM.|Pro-rich.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.2934G>T	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335984	0.81801	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	D;D;D;D;D	0.93953	-2.39;-3.3;-3.32;-2.57;-2.53	5.65	5.65	0.86999	Domain of unknown function DUF1866 (1);Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	D	0.96617	0.8896	M	0.76328	2.33	0.80722	D	1	P;P;D;P;D	0.89917	0.721;0.541;1.0;0.726;0.999	P;B;D;P;D	0.74348	0.449;0.414;0.983;0.566;0.951	D	0.96657	0.9486	10	0.72032	D	0.01	.	19.7319	0.96186	0.0:1.0:0.0:0.0	.	934;978;939;939;939	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	C	934;939;978;978;939	ENSP00000371931:W934C;ENSP00000349903:W939C;ENSP00000371939:W978C;ENSP00000409667:W978C;ENSP00000322234:W939C	ENSP00000322234:W939C	W	-	3	0	SYNJ1	32947526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.048000	0.76606	2.668000	0.90789	0.655000	0.94253	TGG		0.323	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				4	37	1	0	0.00909568	0.00983255	4	37				
SYNJ1	8867	broad.mit.edu	37	21	34072212	34072212	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr21:34072212A>T	ENST00000322229.7	-	3	414	c.415T>A	c.(415-417)Tta>Ata	p.L139I	SYNJ1_ENST00000382499.2_Missense_Mutation_p.L178I|SYNJ1_ENST00000382491.3_Missense_Mutation_p.L139I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.L139I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.L178I			O43426	SYNJ1_HUMAN	synaptojanin 1	139	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTCAAATCTAAACTGATGCCA	0.388																																						uc002yqh.2		NA																	0				ovary(4)|skin(1)	5						c.(532-534)TTA>ATA		synaptojanin 1 isoform a							64.0	63.0	63.0					21																	34072212		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34072212A>T	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.415T>A	21.37:g.34072212A>T	ENSP00000322234:p.Leu139Ile					SYNJ1_uc011ads.1_Missense_Mutation_p.L139I|SYNJ1_uc002yqf.2_Missense_Mutation_p.L139I|SYNJ1_uc002yqg.2_Missense_Mutation_p.L139I|SYNJ1_uc002yqi.2_Missense_Mutation_p.L178I	p.L178I	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			4	532	-			139			SAC.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.532T>A	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.688308	0.48097	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236;ENST00000456084	T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.6	4.45	0.53987	Synaptojanin, N-terminal (2);	0.124505	0.53938	D	0.000052	T	0.46347	0.1388	L	0.52364	1.645	0.49915	D	0.999839	B;B;P;P;P	0.48294	0.277;0.242;0.492;0.624;0.908	B;B;B;B;B	0.40677	0.178;0.223;0.22;0.326;0.337	T	0.44802	-0.9304	10	0.51188	T	0.08	.	11.3265	0.49452	0.9287:0.0:0.0713:0.0	.	139;178;139;139;139	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	I	139;139;178;178;139;139;139	ENSP00000371931:L139I;ENSP00000349903:L139I;ENSP00000371939:L178I;ENSP00000409667:L178I;ENSP00000322234:L139I;ENSP00000413649:L139I;ENSP00000412707:L139I	ENSP00000322234:L139I	L	-	1	2	SYNJ1	32994083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.300000	0.43620	0.957000	0.37930	0.477000	0.44152	TTA		0.388	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				6	24	0	0	0	0	6	24				
CRYZL1	9946	broad.mit.edu	37	21	34997056	34997056	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr21:34997056G>T	ENST00000381554.3	-	3	162	c.77C>A	c.(76-78)cCt>cAt	p.P26H	AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000290244.5_Missense_Mutation_p.P26H|CRYZL1_ENST00000445393.1_Missense_Mutation_p.P26H|CRYZL1_ENST00000381540.3_Missense_Mutation_p.P26H|CRYZL1_ENST00000413017.2_Missense_Mutation_p.P26H|CRYZL1_ENST00000361534.2_Missense_Mutation_p.P50H	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	26					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						CTCTGTAACAGGAAGATCTTC	0.299																																						uc011adw.1		NA																	0					0						c.(76-78)CCT>CAT		crystallin, zeta-like 1							87.0	87.0	87.0					21																	34997056		2203	4297	6500	SO:0001583	missense	9946				quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding	g.chr21:34997056G>T	AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"""quinone reductase-like 1"""	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.77C>A	21.37:g.34997056G>T	ENSP00000370966:p.Pro26His					DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.P50H|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysu.2_Missense_Mutation_p.P26H	p.P26H	NM_145858	NP_665857	O95825	QORL1_HUMAN			3	257	-			26					B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Missense_Mutation	SNP	ENST00000381554.3	37	c.77C>A	CCDS13633.2	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103207	0.56183	.	.	ENSG00000205758	ENST00000381554;ENST00000290244;ENST00000381540;ENST00000445393;ENST00000361534;ENST00000452332;ENST00000431177;ENST00000413017	T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.05	4.18	0.49190	GroES-like (1);	0.413808	0.26673	N	0.023094	T	0.60818	0.2298	L	0.59436	1.845	0.80722	D	1	P;D;D	0.71674	0.952;0.989;0.998	P;P;P	0.57204	0.681;0.815;0.815	T	0.63866	-0.6540	10	0.87932	D	0	-7.6209	9.9927	0.41881	0.0942:0.0:0.9058:0.0	.	26;26;50	O95825;A6NND8;A6NHJ8	QORL1_HUMAN;.;.	H	26;26;26;26;50;26;26;26	ENSP00000370966:P26H;ENSP00000290244:P26H;ENSP00000370951:P26H;ENSP00000399730:P26H;ENSP00000355075:P50H;ENSP00000405510:P26H;ENSP00000389209:P26H	ENSP00000290244:P26H	P	-	2	0	CRYZL1	33918926	1.000000	0.71417	0.998000	0.56505	0.770000	0.43624	3.483000	0.53194	1.261000	0.44149	-0.216000	0.12614	CCT		0.299	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2	NM_145858		14	57	1	0	1.36e-06	1.64e-06	14	57				
RTN4R	65078	broad.mit.edu	37	22	20229737	20229737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr22:20229737G>A	ENST00000043402.7	-	2	1357	c.919C>T	c.(919-921)Cag>Tag	p.Q307*	RTN4R_ENST00000469601.1_5'Flank	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	307	LRRCT.				axonogenesis (GO:0007409)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GCGCAGCCCTGCAGGTCATTG	0.682																																						uc002zrv.2		NA																	0					0						c.(919-921)CAG>TAG		reticulon 4 receptor precursor							12.0	15.0	14.0					22																	20229737		2196	4297	6493	SO:0001587	stop_gained	65078				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity	g.chr22:20229737G>A	AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608			18601	protein-coding gene	gene with protein product		605566				11201742	Standard	NM_023004		Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.919C>T	22.37:g.20229737G>A	ENSP00000043402:p.Gln307*					RTN4R_uc002zru.2_Nonsense_Mutation_p.Q79*	p.Q307*	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN			2	1120	-	Colorectal(54;0.0993)		307			LRRCT.		D3DX28	Nonsense_Mutation	SNP	ENST00000043402.7	37	c.919C>T	CCDS13777.1	.	.	.	.	.	.	.	.	.	.	G	37	6.534253	0.97646	.	.	ENSG00000040608	ENST00000043402	.	.	.	4.15	1.91	0.25777	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	9.9632	0.41708	0.0:0.5827:0.4173:0.0	.	.	.	.	X	307	.	ENSP00000043402:Q307X	Q	-	1	0	RTN4R	18609737	0.948000	0.32251	0.995000	0.50966	0.454000	0.32378	1.890000	0.39728	0.350000	0.24002	0.205000	0.17691	CAG		0.682	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318950.2			7	12	0	0	0	0	7	12				
TGFBR2	7048	broad.mit.edu	37	3	30732963	30732963	+	Nonsense_Mutation	SNP	G	G	T	rs121918714		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:30732963G>T	ENST00000295754.5	+	7	1958	c.1576G>T	c.(1576-1578)Gag>Tag	p.E526*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.E551*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	526	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> Q (in esophageal cancer). {ECO:0000269|PubMed:10789724}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCACGACCCAGAGGCCCGTCT	0.602																																						uc003ceo.2		NA																	0				pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						c.(1576-1578)GAG>TAG		transforming growth factor, beta receptor II							70.0	65.0	66.0					3																	30732963		2203	4300	6503	SO:0001587	stop_gained	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30732963G>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1576G>T	3.37:g.30732963G>T	ENSP00000295754:p.Glu526*					TGFBR2_uc003cen.2_Nonsense_Mutation_p.E551*	p.E526*	NM_003242	NP_003233	P37173	TGFR2_HUMAN			7	1958	+			526		E -> Q (in esophageal cancer).	Protein kinase.|Cytoplasmic (Potential).		B4DTV5|Q15580|Q6DKT6|Q99474	Nonsense_Mutation	SNP	ENST00000295754.5	37	c.1576G>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	42	9.482769	0.99183	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	.	.	.	X	526;551;356	.	ENSP00000295754:E526X	E	+	1	0	TGFBR2	30707967	1.000000	0.71417	0.956000	0.39512	0.964000	0.63967	9.869000	0.99810	2.808000	0.96608	0.655000	0.94253	GAG		0.602	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			32	26	1	0	2.08e-15	2.63e-15	32	26				
SCN11A	11280	broad.mit.edu	37	3	38888436	38888436	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:38888436C>G	ENST00000302328.3	-	26	5323	c.5125G>C	c.(5125-5127)Gag>Cag	p.E1709Q	SCN11A_ENST00000450244.1_Missense_Mutation_p.E1709Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.E1671Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1709					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGAACTTCTCTTCCATCATT	0.458																																						uc011ays.1		NA																	0				skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(5125-5127)GAG>CAG		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						187.0	182.0	183.0					3																	38888436		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888436C>G	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.5125G>C	3.37:g.38888436C>G	ENSP00000307599:p.Glu1709Gln						p.E1709Q	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	5324	-			1709					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.5125G>C	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279649	0.80692	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.96522	-4.04;-4.04;-4.0	5.46	5.46	0.80206	.	0.052262	0.85682	D	0.000000	D	0.97673	0.9237	M	0.73217	2.22	0.51233	D	0.999916	D	0.69078	0.997	P	0.62382	0.901	D	0.98298	1.0517	10	0.87932	D	0	.	19.3049	0.94157	0.0:1.0:0.0:0.0	.	1709	Q9UI33	SCNBA_HUMAN	Q	1709;1709;1671	ENSP00000307599:E1709Q;ENSP00000400945:E1709Q;ENSP00000416757:E1671Q	ENSP00000307599:E1709Q	E	-	1	0	SCN11A	38863440	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.770000	0.85390	2.544000	0.85801	0.650000	0.86243	GAG		0.458	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		30	95	0	0	0	0	30	95				
CCR2	729230	broad.mit.edu	37	3	46399419	46399419	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:46399419T>A	ENST00000400888.2	+	1	440	c.401T>A	c.(400-402)cTg>cAg	p.L134Q	CCR2_ENST00000292301.4_Missense_Mutation_p.L134Q|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.L134Q			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	134					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		ATCATCCTCCTGACAATCGAT	0.463																																						uc003cpn.3		NA																	0				lung(1)|breast(1)	2						c.(400-402)CTG>CAG		chemokine (C-C motif) receptor 2 isoform A							425.0	381.0	395.0					3																	46399419		1568	3582	5150	SO:0001583	missense	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399419T>A		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.401T>A	3.37:g.46399419T>A	ENSP00000383681:p.Leu134Gln					CCR2_uc003cpm.3_Missense_Mutation_p.L134Q	p.L134Q	NM_001123041	NP_001116513	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	886	+			134			Helical; Name=3; (Potential).		A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.401T>A	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415325	0.83449	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000400888	T;T;T	0.74632	-0.86;-0.86;-0.86	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000089	D	0.90810	0.7114	H	0.97390	3.995	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93954	0.7234	10	0.87932	D	0	.	14.5989	0.68427	0.0:0.0:0.0:1.0	.	134;134	P41597;Q4VBL2	CCR2_HUMAN;.	Q	134	ENSP00000399285:L134Q;ENSP00000292301:L134Q;ENSP00000383681:L134Q	ENSP00000292301:L134Q	L	+	2	0	CCR2	46374423	1.000000	0.71417	0.996000	0.52242	0.914000	0.54420	7.993000	0.88291	1.913000	0.55393	0.528000	0.53228	CTG		0.463	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		22	419	0	0	0	0	22	419				
ZBTB11	27107	broad.mit.edu	37	3	101375081	101375081	+	Missense_Mutation	SNP	C	C	G	rs144559723		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:101375081C>G	ENST00000312938.4	-	7	2638	c.2058G>C	c.(2056-2058)aaG>aaC	p.K686N		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	686					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGATAAAAGTCTTTCCACAGA	0.333																																						uc003dve.3		NA																	0				skin(1)	1						c.(2056-2058)AAG>AAC		zinc finger protein ZNF-U69274		C	ASN/LYS	0,4406		0,0,2203	78.0	76.0	77.0		2058	1.7	1.0	3	dbSNP_134	77	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZBTB11	NM_014415.3	94	0,1,6501	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	686/1054	101375081	1,13003	2203	4299	6502	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101375081C>G	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2058G>C	3.37:g.101375081C>G	ENSP00000326200:p.Lys686Asn						p.K686N	NM_014415	NP_055230	O95625	ZBT11_HUMAN			7	2288	-			686			C2H2-type 4.		Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.2058G>C	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473363	0.63737	0.0	1.16E-4	ENSG00000066422	ENST00000312938	T	0.27890	1.64	6.05	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.095203	0.64402	D	0.000001	T	0.59595	0.2205	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62891	-0.6758	10	0.87932	D	0	-18.8406	9.1133	0.36741	0.0:0.6072:0.0:0.3928	.	686	O95625	ZBT11_HUMAN	N	686	ENSP00000326200:K686N	ENSP00000326200:K686N	K	-	3	2	ZBTB11	102857771	0.998000	0.40836	1.000000	0.80357	0.657000	0.38888	0.759000	0.26461	0.266000	0.21894	0.650000	0.86243	AAG		0.333	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		7	32	0	0	0	0	7	32				
TRH	7200	broad.mit.edu	37	3	129695649	129695649	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:129695649G>T	ENST00000302649.3	+	3	846	c.319G>T	c.(319-321)Gct>Tct	p.A107S	TRH_ENST00000507066.1_Missense_Mutation_p.A103S	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	107					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						agaagggggggCTGTGGGACC	0.577																																					Esophageal Squamous(60;321 1330 17401 41911)	uc003enc.2		NA																	0				ovary(1)	1						c.(319-321)GCT>TCT		thyrotropin-releasing hormone							55.0	50.0	52.0					3																	129695649		2203	4300	6503	SO:0001583	missense	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695649G>T		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.319G>T	3.37:g.129695649G>T	ENSP00000303452:p.Ala107Ser						p.A107S	NM_007117	NP_009048	P20396	TRH_HUMAN			3	880	+			107					B2R8R1|Q2TB83	Missense_Mutation	SNP	ENST00000302649.3	37	c.319G>T	CCDS3066.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407551	0.25378	.	.	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.42513	1.02;0.97	4.98	0.939	0.19506	.	0.646239	0.15531	N	0.257512	T	0.36908	0.0984	L	0.53249	1.67	0.09310	N	1	P	0.41420	0.749	P	0.45753	0.492	T	0.17198	-1.0377	10	0.18710	T	0.47	-2.7148	5.1402	0.14955	0.276:0.1549:0.5692:0.0	.	107	P20396	TRH_HUMAN	S	107;103	ENSP00000303452:A107S;ENSP00000426522:A103S	ENSP00000303452:A107S	A	+	1	0	TRH	131178339	0.001000	0.12720	0.002000	0.10522	0.545000	0.35147	0.706000	0.25690	0.203000	0.20529	0.591000	0.81541	GCT		0.577	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		5	80	1	0	0.000602214	0.000674923	5	80				
STAG1	10274	broad.mit.edu	37	3	136219098	136219098	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:136219098G>C	ENST00000383202.2	-	9	1125	c.869C>G	c.(868-870)tCt>tGt	p.S290C	STAG1_ENST00000236698.5_Missense_Mutation_p.S290C|STAG1_ENST00000434713.2_Missense_Mutation_p.S64C	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	290					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CTTAAAAATAGAGTTCATCAT	0.279																																						uc003era.1		NA																	0				ovary(2)	2						c.(868-870)TCT>TGT		stromal antigen 1							38.0	37.0	38.0					3																	136219098		2188	4281	6469	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136219098G>C	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.869C>G	3.37:g.136219098G>C	ENSP00000372689:p.Ser290Cys					STAG1_uc003erb.1_Missense_Mutation_p.S290C|STAG1_uc003erc.1_Missense_Mutation_p.S64C|STAG1_uc010hua.1_Missense_Mutation_p.S153C|STAG1_uc003erd.2_Missense_Mutation_p.S193C	p.S290C	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			9	1161	-			290					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.869C>G	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210008	0.58343	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713	T;T;T	0.35421	1.31;1.31;1.31	5.41	4.54	0.55810	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.30070	0.0753	L	0.34521	1.04	0.80722	D	1	B;B;B	0.12630	0.006;0.004;0.006	B;B;B	0.15484	0.013;0.005;0.013	T	0.06409	-1.0828	10	0.56958	D	0.05	.	14.0853	0.64951	0.0729:0.0:0.9271:0.0	.	307;290;290	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	C	290;290;64	ENSP00000372689:S290C;ENSP00000236698:S290C;ENSP00000404396:S64C	ENSP00000236698:S290C	S	-	2	0	STAG1	137701788	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.837000	0.99465	1.283000	0.44513	0.467000	0.42956	TCT		0.279	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		4	8	0	0	0	0	4	8				
CLDN18	51208	broad.mit.edu	37	3	137749921	137749921	+	Missense_Mutation	SNP	G	G	A	rs141484279		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:137749921G>A	ENST00000183605.5	+	5	950	c.724G>A	c.(724-726)Gat>Aat	p.D242N	CLDN18_ENST00000343735.4_Missense_Mutation_p.D242N	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	242					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GAAGATATACGATGGAGGTGC	0.517																																						uc003ero.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(724-726)GAT>AAT		claudin 18 isoform 2		G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	151.0	143.0	146.0		724,724	2.9	0.6	3	dbSNP_134	146	0,8600		0,0,4300	no	missense,missense	CLDN18	NM_001002026.2,NM_016369.3	23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	242/262,242/262	137749921	1,13005	2203	4300	6503	SO:0001583	missense	51208				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:137749921G>A	AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"""Claudins"""	2039	protein-coding gene	gene with protein product		609210	"""surfactant associated protein J"""	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000183605.5:c.724G>A	3.37:g.137749921G>A	ENSP00000183605:p.Asp242Asn					CLDN18_uc003erp.1_Missense_Mutation_p.D242N|CLDN18_uc010hue.1_Missense_Mutation_p.D198N	p.D242N	NM_001002026	NP_001002026	P56856	CLD18_HUMAN			5	777	+			242			Cytoplasmic (Potential).		A5PL21|Q96PH4	Missense_Mutation	SNP	ENST00000183605.5	37	c.724G>A	CCDS3095.1	.	.	.	.	.	.	.	.	.	.	G	8.793	0.931026	0.18131	2.27E-4	0.0	ENSG00000066405	ENST00000343735;ENST00000183605;ENST00000536138	D;D	0.85629	-1.98;-2.01	4.88	2.94	0.34122	.	1.434350	0.03791	N	0.262957	T	0.75228	0.3821	N	0.14661	0.345	0.32093	N	0.591576	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.63791	-0.6557	10	0.32370	T	0.25	.	8.0284	0.30451	0.2752:0.0:0.7248:0.0	.	231;242;242	B4DNX6;P56856;P56856-2	.;CLD18_HUMAN;.	N	242;242;231	ENSP00000340939:D242N;ENSP00000183605:D242N	ENSP00000183605:D242N	D	+	1	0	CLDN18	139232611	0.976000	0.34144	0.589000	0.28718	0.212000	0.24457	1.977000	0.40589	0.674000	0.31244	0.655000	0.94253	GAT		0.517	CLDN18-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357199.2	NM_001002026		27	149	0	0	0	0	27	149				
RASA2	5922	broad.mit.edu	37	3	141328366	141328366	+	Splice_Site	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:141328366G>T	ENST00000452898.1	+	22	2367		c.e22+1		RASA2_ENST00000509118.1_Splice_Site|RASA2_ENST00000286364.3_Splice_Site	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2						intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AAGATGGAAGGTAAATACACA	0.303																																						uc003etz.1		NA																	0				ovary(2)|lung(2)|breast(1)|skin(1)	6						c.e22+1		RAS p21 protein activator 2							68.0	71.0	70.0					3																	141328366		2203	4295	6498	SO:0001630	splice_region_variant	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141328366G>T	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.2332+1G>T	3.37:g.141328366G>T						RASA2_uc010huq.1_Splice_Site_p.E781_splice|RASA2_uc003eua.1_Splice_Site_p.E778_splice	p.E777_splice	NM_006506	NP_006497	Q15283	RASA2_HUMAN			22	2329	+								A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Splice_Site	SNP	ENST00000452898.1	37	c.2329_splice		.	.	.	.	.	.	.	.	.	.	G	24.2	4.504531	0.85176	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4279	0.94751	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RASA2	142811056	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.100000	0.94213	2.824000	0.97209	0.655000	0.94253	.		0.303	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506	Intron	5	54	1	0	3.6e-05	4.19e-05	5	54				
ATR	545	broad.mit.edu	37	3	142215313	142215313	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:142215313C>T	ENST00000350721.4	-	34	5909	c.5788G>A	c.(5788-5790)Gta>Ata	p.V1930I	ATR_ENST00000383101.3_Missense_Mutation_p.V1866I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1930	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTTCTAGCTACCCTGGCACTC	0.488								Other conserved DNA damage response genes																														uc003eux.3		NA																	0				lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(5788-5790)GTA>ATA	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							158.0	131.0	140.0					3																	142215313		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142215313C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.5788G>A	3.37:g.142215313C>T	ENSP00000343741:p.Val1930Ile						p.V1930I	NM_001184	NP_001175	Q13535	ATR_HUMAN			34	5910	-			1930			FAT.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.5788G>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342898	0.82022	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.69806	-0.43;-0.43	5.78	5.78	0.91487	PIK-related kinase (1);Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	N	0.25245	0.725	0.80722	D	1	P	0.40398	0.716	P	0.47891	0.56	T	0.61515	-0.7047	10	0.33141	T	0.24	-19.859	20.0203	0.97492	0.0:1.0:0.0:0.0	.	1930	Q13535	ATR_HUMAN	I	1930;1866	ENSP00000343741:V1930I;ENSP00000372581:V1866I	ENSP00000343741:V1930I	V	-	1	0	ATR	143698003	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.973000	0.63763	2.730000	0.93505	0.655000	0.94253	GTA		0.488	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		4	97	0	0	0	0	4	97				
ATR	545	broad.mit.edu	37	3	142281919	142281919	+	Missense_Mutation	SNP	G	G	A	rs146405935	byFrequency	TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:142281919G>A	ENST00000350721.4	-	4	446	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	ATR_ENST00000383101.3_Missense_Mutation_p.R109W	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	109					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCTGCAATCCGCAGAAGTCTC	0.313								Other conserved DNA damage response genes					G|||	16	0.00319489	0.0	0.0	5008	,	,		19322	0.0159		0.0	False		,,,				2504	0.0					uc003eux.3		NA																	0				lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(325-327)CGG>TGG	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							89.0	101.0	97.0					3																	142281919		2140	4275	6415	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281919G>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.325C>T	3.37:g.142281919G>A	ENSP00000343741:p.Arg109Trp						p.R109W	NM_001184	NP_001175	Q13535	ATR_HUMAN			4	447	-			109					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.325C>T	CCDS3124.1	10	0.004578754578754579	0	0.0	0	0.0	10	0.017482517482517484	0	0.0	G	16.87	3.243184	0.58995	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.42131	0.98;0.98	5.62	1.5	0.22942	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45518	0.1346	M	0.65975	2.015	0.33347	D	0.570621	D	0.89917	1.0	D	0.87578	0.998	T	0.70160	-0.4948	10	0.87932	D	0	-12.9653	15.9255	0.79611	0.0:0.0:0.3695:0.6305	.	109	Q13535	ATR_HUMAN	W	109	ENSP00000343741:R109W;ENSP00000372581:R109W	ENSP00000343741:R109W	R	-	1	2	ATR	143764609	0.983000	0.35010	0.981000	0.43875	0.995000	0.86356	1.796000	0.38794	-0.019000	0.14055	0.467000	0.42956	CGG		0.313	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		5	158	0	0	0	0	5	158				
FAM53A	152877	broad.mit.edu	37	4	1656773	1656773	+	Missense_Mutation	SNP	G	G	A	rs376520001		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:1656773G>A	ENST00000308132.6	-	4	1006	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	FAM53A_ENST00000489363.1_Missense_Mutation_p.R272C|FAM53A_ENST00000461064.1_Missense_Mutation_p.R272C|FAM53A_ENST00000472884.2_Missense_Mutation_p.R272C	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	272						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CTCCGTTTGCGCCGGCTCCTC	0.667																																						uc011bve.1		NA																	0					0						c.(814-816)CGC>TGC		dorsal neural-tube nuclear protein		G	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	32.0	29.0	30.0		814,814	1.8	0.6	4		30	1,8599		0,1,4299	no	missense,missense	FAM53A	NM_001013622.3,NM_001174070.1	180,180	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging,probably-damaging	272/399,272/399	1656773	3,13003	2203	4300	6503	SO:0001583	missense	152877					nucleus		g.chr4:1656773G>A	BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137			31860	protein-coding gene	gene with protein product							Standard	NM_001013622		Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000308132.6:c.814C>T	4.37:g.1656773G>A	ENSP00000310057:p.Arg272Cys					FAM53A_uc010ibw.2_Missense_Mutation_p.R272C	p.R272C	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)		4	1012	-		all_epithelial(65;0.206)|Breast(71;0.212)	272			Nuclear localization signal (Potential).		Q6ZUL5	Missense_Mutation	SNP	ENST00000308132.6	37	c.814C>T	CCDS33939.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.700048	0.30142	4.54E-4	1.16E-4	ENSG00000174137	ENST00000308132;ENST00000489363;ENST00000461064;ENST00000472884	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.51	1.8	0.24995	.	0.401936	0.20495	N	0.091214	T	0.31295	0.0792	L	0.51422	1.61	0.38664	D	0.952154	B;B	0.30211	0.273;0.247	B;B	0.22880	0.042;0.035	T	0.12066	-1.0562	10	0.66056	D	0.02	-16.791	6.0721	0.19895	0.2329:0.1364:0.6307:0.0	.	272;272	Q6NSI3;C9JYQ7	FA53A_HUMAN;.	C	272	ENSP00000310057:R272C;ENSP00000419044:R272C;ENSP00000418243:R272C;ENSP00000426260:R272C	ENSP00000310057:R272C	R	-	1	0	FAM53A	1626570	0.998000	0.40836	0.574000	0.28523	0.580000	0.36256	2.237000	0.43061	0.038000	0.15604	-0.222000	0.12452	CGC		0.667	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359224.1	NM_001013622		11	40	0	0	0	0	11	40				
EVC2	132884	broad.mit.edu	37	4	5627547	5627547	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:5627547C>T	ENST00000344408.5	-	13	2028	c.1975G>A	c.(1975-1977)Gac>Aac	p.D659N	EVC2_ENST00000344938.1_Missense_Mutation_p.D659N|EVC2_ENST00000310917.2_Missense_Mutation_p.D579N	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	659					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGCTTTAAGTCATTGTCCAAC	0.388																																						uc003gij.2		NA																	0				large_intestine(3)|ovary(2)	5						c.(1975-1977)GAC>AAC		limbin							191.0	179.0	183.0					4																	5627547		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5627547C>T	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1975G>A	4.37:g.5627547C>T	ENSP00000342144:p.Asp659Asn					EVC2_uc011bwb.1_Missense_Mutation_p.D99N|EVC2_uc003gik.2_Missense_Mutation_p.D579N	p.D659N	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			13	2029	-			659			Potential.		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.1975G>A	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142539	0.77888	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.79141	-1.24;-1.24;-1.24	5.54	4.69	0.59074	.	0.155531	0.64402	D	0.000019	D	0.84933	0.5582	M	0.67953	2.075	0.37352	D	0.910821	D	0.76494	0.999	D	0.72338	0.977	D	0.84974	0.0884	10	0.25106	T	0.35	-20.9537	13.3826	0.60778	0.0:0.9242:0.0:0.0758	.	659	Q86UK5	LBN_HUMAN	N	659;579;659	ENSP00000339954:D659N;ENSP00000311683:D579N;ENSP00000342144:D659N	ENSP00000311683:D579N	D	-	1	0	EVC2	5678448	1.000000	0.71417	0.872000	0.34217	0.994000	0.84299	2.067000	0.41461	1.330000	0.45394	0.650000	0.86243	GAC		0.388	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		19	124	0	0	0	0	19	124				
TLR1	7096	broad.mit.edu	37	4	38800207	38800207	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:38800207C>T	ENST00000502213.2	-	3	475	c.246G>A	c.(244-246)caG>caA	p.Q82Q	TLR1_ENST00000308979.2_Silent_p.Q82Q			Q15399	TLR1_HUMAN	toll-like receptor 1	82					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TATCAAGATACTGGATTCTAT	0.343																																					GBM(5;216 373 40795 46382)	uc003gtl.2		NA																	0				lung(2)|skin(2)|prostate(1)	5						c.(244-246)CAG>CAA		toll-like receptor 1 precursor							97.0	106.0	103.0					4																	38800207		2203	4300	6503	SO:0001819	synonymous_variant	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38800207C>T	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.246G>A	4.37:g.38800207C>T							p.Q82Q	NM_003263	NP_003254	Q15399	TLR1_HUMAN			4	520	-			82			Extracellular (Potential).|LRR 2.		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Silent	SNP	ENST00000502213.2	37	c.246G>A	CCDS33973.1																																																																																				0.343	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			8	192	0	0	0	0	8	192				
SLAIN2	57606	broad.mit.edu	37	4	48380075	48380075	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:48380075C>G	ENST00000264313.6	+	3	1119	c.701C>G	c.(700-702)tCa>tGa	p.S234*	SLAIN2_ENST00000506375.1_3'UTR|SLAIN2_ENST00000512093.1_Nonsense_Mutation_p.S41*	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	234					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CCTGGAAATTCAGGTAAGGAG	0.398																																						uc003gya.3		NA																	0					0						c.(700-702)TCA>TGA		SLAIN motif family, member 2							106.0	103.0	104.0					4																	48380075		1854	4086	5940	SO:0001587	stop_gained	57606					centrosome		g.chr4:48380075C>G	BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"""KIAA1458"""	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.701C>G	4.37:g.48380075C>G	ENSP00000264313:p.Ser234*						p.S234*	NM_020846	NP_065897	Q9P270	SLAI2_HUMAN			3	845	+			234					A8K4P1|Q8N5R3	Nonsense_Mutation	SNP	ENST00000264313.6	37	c.701C>G	CCDS47051.1	.	.	.	.	.	.	.	.	.	.	C	36	5.911308	0.97093	.	.	ENSG00000109171	ENST00000264313;ENST00000512093	.	.	.	5.96	5.96	0.96718	.	0.179280	0.40640	N	0.001053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.625	20.4008	0.98991	0.0:1.0:0.0:0.0	.	.	.	.	X	234;41	.	ENSP00000264313:S234X	S	+	2	0	SLAIN2	48074832	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.194000	0.77789	2.826000	0.97356	0.655000	0.94253	TCA		0.398	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4	NM_020846		3	128	0	0	0	0	3	128				
LRRC66	339977	broad.mit.edu	37	4	52861436	52861436	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:52861436T>C	ENST00000343457.3	-	4	1758	c.1752A>G	c.(1750-1752)atA>atG	p.I584M		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	584						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GGGAAGCTGTTATTTCTCCGG	0.498																																						uc003gzi.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1750-1752)ATA>ATG		leucine rich repeat containing 66							102.0	108.0	106.0					4																	52861436		2100	4267	6367	SO:0001583	missense	339977					integral to membrane		g.chr4:52861436T>C	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1752A>G	4.37:g.52861436T>C	ENSP00000341944:p.Ile584Met						p.I584M	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	1765	-			584						Missense_Mutation	SNP	ENST00000343457.3	37	c.1752A>G	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.598158	0.00857	.	.	ENSG00000188993	ENST00000343457	T	0.25414	1.8	4.3	-0.702	0.11265	.	1.574100	0.03390	N	0.201688	T	0.07863	0.0197	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25502	-1.0130	10	0.02654	T	1	-0.1524	3.2163	0.06700	0.3113:0.3173:0.0:0.3714	.	584	Q68CR7	LRC66_HUMAN	M	584	ENSP00000341944:I584M	ENSP00000341944:I584M	I	-	3	3	LRRC66	52556193	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.087000	0.11215	-0.309000	0.08779	-0.220000	0.12472	ATA		0.498	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		7	247	0	0	0	0	7	247				
EPHA5	2044	broad.mit.edu	37	4	66213889	66213889	+	Silent	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:66213889T>A	ENST00000273854.3	-	15	3141	c.2541A>T	c.(2539-2541)ccA>ccT	p.P847P	EPHA5_ENST00000432638.2_Silent_p.P684P|EPHA5_ENST00000354839.4_Silent_p.P825P|EPHA5_ENST00000511294.1_Silent_p.P848P	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	847	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTATTGCTTCTGGGGCAGTCC	0.413										TSP Lung(17;0.13)																												uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(2539-2541)CCA>CCT		ephrin receptor EphA5 isoform a precursor							123.0	122.0	123.0					4																	66213889		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66213889T>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2541A>T	4.37:g.66213889T>A		TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Silent_p.P779P|EPHA5_uc003hcz.2_Silent_p.P825P|EPHA5_uc011cah.1_Silent_p.P848P|EPHA5_uc011cai.1_Silent_p.P826P|EPHA5_uc003hda.2_Silent_p.P848P	p.P847P	NM_004439	NP_004430	P54756	EPHA5_HUMAN			15	2734	-			847			Cytoplasmic (Potential).|Protein kinase.		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.2541A>T	CCDS3513.1																																																																																				0.413	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		13	50	0	0	0	0	13	50				
EPHA5	2044	broad.mit.edu	37	4	66217243	66217243	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:66217243A>G	ENST00000273854.3	-	14	2972	c.2372T>C	c.(2371-2373)cTt>cCt	p.L791P	EPHA5_ENST00000432638.2_Missense_Mutation_p.L628P|EPHA5_ENST00000354839.4_Missense_Mutation_p.L769P|EPHA5_ENST00000511294.1_Missense_Mutation_p.L792P	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	791	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CATGTCAGAAAGGTACTTCAT	0.423										TSP Lung(17;0.13)																												uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(2371-2373)CTT>CCT		ephrin receptor EphA5 isoform a precursor							136.0	117.0	123.0					4																	66217243		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66217243A>G	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2372T>C	4.37:g.66217243A>G	ENSP00000273854:p.Leu791Pro	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.L723P|EPHA5_uc003hcz.2_Missense_Mutation_p.L769P|EPHA5_uc011cah.1_Missense_Mutation_p.L792P|EPHA5_uc011cai.1_Missense_Mutation_p.L770P|EPHA5_uc003hda.2_Missense_Mutation_p.L792P	p.L791P	NM_004439	NP_004430	P54756	EPHA5_HUMAN			14	2565	-			791			Cytoplasmic (Potential).|Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2372T>C	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435670	0.83885	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	5.98	5.98	0.97165	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000074	D	0.98093	0.9371	H	0.99582	4.64	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99780	1.1027	10	0.87932	D	0	.	16.4566	0.84019	1.0:0.0:0.0:0.0	.	770;792;769;791	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	P	791;628;769;792	ENSP00000273854:L791P;ENSP00000389208:L628P;ENSP00000346899:L769P;ENSP00000427638:L792P	ENSP00000273854:L791P	L	-	2	0	EPHA5	65899838	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	9.339000	0.96797	2.293000	0.77203	0.477000	0.44152	CTT		0.423	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		8	29	0	0	0	0	8	29				
ARHGAP10	79658	broad.mit.edu	37	4	148944475	148944475	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:148944475C>G	ENST00000336498.3	+	19	2017	c.1778C>G	c.(1777-1779)cCa>cGa	p.P593R	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.P242R	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	1362					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GCATCACCCCCAAATGCGCCA	0.512																																						uc003ilf.2		NA																	0				skin(2)|pancreas(1)|lung(1)	4						c.(1777-1779)CCA>CGA		Rho GTPase activating protein 10							85.0	87.0	86.0					4																	148944475		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148944475C>G	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1778C>G	4.37:g.148944475C>G	ENSP00000336923:p.Pro593Arg					ARHGAP10_uc003ilg.2_Missense_Mutation_p.P242R|ARHGAP10_uc003ilh.2_Missense_Mutation_p.P174R|ARHGAP10_uc003ili.2_Missense_Mutation_p.P26R	p.P593R	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	19	1778	+	all_hematologic(180;0.151)	Renal(17;0.0166)	593					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.1778C>G	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994231	0.74703	.	.	ENSG00000071205	ENST00000336498;ENST00000414545	T;T	0.12569	2.98;2.67	5.72	5.72	0.89469	.	0.385800	0.29624	N	0.011633	T	0.34077	0.0885	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;0.999	D;D;D;D	0.87578	0.998;0.973;0.997;0.971	T	0.05468	-1.0883	10	0.09590	T	0.72	.	18.048	0.89338	0.0:1.0:0.0:0.0	.	26;174;242;593	Q9H7G7;Q86T21;E7EUW5;A1A4S6	.;.;.;RHG10_HUMAN	R	593;242	ENSP00000336923:P593R;ENSP00000406624:P242R	ENSP00000336923:P593R	P	+	2	0	ARHGAP10	149163925	1.000000	0.71417	0.996000	0.52242	0.884000	0.51177	5.038000	0.64177	2.690000	0.91761	0.655000	0.94253	CCA		0.512	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		9	57	0	0	0	0	9	57				
DNAH5	1767	broad.mit.edu	37	5	13762885	13762885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:13762885C>T	ENST00000265104.4	-	60	10331	c.10227G>A	c.(10225-10227)tgG>tgA	p.W3409*	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3409	Stalk. {ECO:0000250}.		W -> S (in CILD3). {ECO:0000269|PubMed:16627867}.		cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAGCTTTCGTCCAGGAACAAA	0.448									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(10225-10227)TGG>TGA		dynein, axonemal, heavy chain 5							91.0	88.0	89.0					5																	13762885		2203	4300	6503	SO:0001587	stop_gained	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13762885C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10227G>A	5.37:g.13762885C>T	ENSP00000265104:p.Trp3409*					DNAH5_uc003jfc.2_5'UTR	p.W3409*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			60	10269	-	Lung NSC(4;0.00476)		3409		W -> S (in CILD3).	Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.10227G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	51	17.607513	0.99890	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9925	0.92798	0.0:1.0:0.0:0.0	.	.	.	.	X	3409	.	ENSP00000265104:W3409X	W	-	3	0	DNAH5	13815885	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	7.770000	0.85390	2.494000	0.84150	0.313000	0.20887	TGG		0.448	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		29	106	0	0	0	0	29	106				
CARD6	84674	broad.mit.edu	37	5	40852441	40852441	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:40852441G>A	ENST00000254691.5	+	3	1206	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	336					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GTTCAAGCACGAGATGTGACC	0.458																																						uc003jmg.2		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(1006-1008)CGA>CAA		caspase recruitment domain family, member 6							61.0	60.0	60.0					5																	40852441		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40852441G>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1007G>A	5.37:g.40852441G>A	ENSP00000254691:p.Arg336Gln						p.R336Q	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	1082	+			336					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.1007G>A	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	9.732	1.162545	0.21538	.	.	ENSG00000132357	ENST00000254691;ENST00000509771	T	0.11821	2.74	5.4	4.24	0.50183	.	0.151580	0.30686	N	0.009086	T	0.07279	0.0184	N	0.08118	0	0.39334	D	0.965472	B	0.28291	0.206	B	0.19391	0.025	T	0.23261	-1.0193	10	0.87932	D	0	-4.8111	10.9789	0.47482	0.0:0.0:0.1573:0.8427	.	336	Q9BX69	CARD6_HUMAN	Q	336	ENSP00000254691:R336Q	ENSP00000254691:R336Q	R	+	2	0	CARD6	40888198	0.649000	0.27322	0.588000	0.28705	0.023000	0.10783	1.544000	0.36158	1.071000	0.40834	-0.264000	0.10439	CGA		0.458	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			12	83	0	0	0	0	12	83				
HCN1	348980	broad.mit.edu	37	5	45262321	45262321	+	Missense_Mutation	SNP	G	G	A	rs140758934		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:45262321G>A	ENST00000303230.4	-	8	2432	c.2375C>T	c.(2374-2376)tCg>tTg	p.S792L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	792					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATGGGGCAGCGAGGGCTGCGA	0.637																																						uc003jok.2		NA																	0				ovary(1)	1						c.(2374-2376)TCG>TTG		hyperpolarization activated cyclic		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	61.0	58.0	59.0		2375	5.0	1.0	5	dbSNP_134	59	0,8600		0,0,4300	no	missense	HCN1	NM_021072.3	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	792/891	45262321	1,13005	2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262321G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2375C>T	5.37:g.45262321G>A	ENSP00000307342:p.Ser792Leu						p.S792L	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2400	-			792			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.2375C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126390	0.77549	2.27E-4	0.0	ENSG00000164588	ENST00000303230	T	0.77620	-1.11	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000020	T	0.69886	0.3161	L	0.32530	0.975	0.53688	D	0.999971	B	0.27068	0.167	B	0.14578	0.011	T	0.69098	-0.5235	10	0.59425	D	0.04	.	18.7131	0.91666	0.0:0.0:1.0:0.0	.	792	O60741	HCN1_HUMAN	L	792	ENSP00000307342:S792L	ENSP00000307342:S792L	S	-	2	0	HCN1	45298078	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.689000	0.98673	2.491000	0.84063	0.655000	0.94253	TCG		0.637	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		13	151	0	0	0	0	13	151				
ITGA1	3672	broad.mit.edu	37	5	52211331	52211331	+	Missense_Mutation	SNP	T	T	G	rs138709169		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:52211331T>G	ENST00000282588.6	+	15	2353	c.1895T>G	c.(1894-1896)tTt>tGt	p.F632C		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	632					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ACACTGAAATTTTTTGGCCAG	0.423																																						uc003jou.2		NA																	0				ovary(2)|lung(1)	3						c.(1894-1896)TTT>TGT		integrin, alpha 1 precursor		T	CYS/PHE	0,4406		0,0,2203	172.0	172.0	172.0		1895	5.5	1.0	5	dbSNP_134	172	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ITGA1	NM_181501.1	205	0,2,6501	GG,GT,TT		0.0233,0.0,0.0154	probably-damaging	632/1180	52211331	2,13004	2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52211331T>G	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1895T>G	5.37:g.52211331T>G	ENSP00000282588:p.Phe632Cys					ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.F163C	p.F632C	NM_181501	NP_852478	P56199	ITA1_HUMAN			15	1947	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	632			Extracellular (Potential).|FG-GAP 7.		B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.1895T>G	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486309	0.84854	0.0	2.33E-4	ENSG00000213949	ENST00000282588	T	0.56275	0.47	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	L	0.55213	1.73	0.80722	D	1	D	0.71674	0.998	P	0.61940	0.896	T	0.69213	-0.5204	10	0.72032	D	0.01	.	15.9546	0.79876	0.0:0.0:0.0:1.0	.	632	P56199	ITA1_HUMAN	C	632	ENSP00000282588:F632C	ENSP00000282588:F632C	F	+	2	0	ITGA1	52247088	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.227000	0.72691	0.528000	0.53228	TTT		0.423	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		3	143	0	0	0	0	3	143				
ISCA1P1	389293	broad.mit.edu	37	5	62073029	62073029	+	IGR	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:62073029G>C								IPO11 (148620 upstream) : None (None downstream)																							GGCTGCCCGGGTGGGCTGCAG	0.582																																						uc003jtf.2		NA																	0					0						c.(61-63)ACC>AGC		iron-sulfur cluster assembly 1 homolog (S.							15.0	16.0	16.0					5																	62073029		2194	4292	6486	SO:0001628	intergenic_variant	389293							g.chr5:62073029G>C																													5.37:g.62073029G>C							p.T21S	NM_001080540	NP_001074009					1	142	-									Missense_Mutation	SNP		37	c.62C>G																																																																																				0	0.582									20	12	0	0	0	0	20	12				
GPR98	84059	broad.mit.edu	37	5	90040951	90040951	+	Silent	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:90040951T>A	ENST00000405460.2	+	51	10734	c.10638T>A	c.(10636-10638)ccT>ccA	p.P3546P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3546	Calx-beta 23. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGAAGTACCTTCTGCTTATG	0.408																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(10636-10638)CCT>CCA		G protein-coupled receptor 98 precursor							320.0	305.0	310.0					5																	90040951		1871	4089	5960	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90040951T>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10638T>A	5.37:g.90040951T>A						GPR98_uc003kjt.2_Silent_p.P1252P|GPR98_uc003kjv.2_Silent_p.P1146P	p.P3546P	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	51	10734	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3546			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.10638T>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	7.472	0.646957	0.14516	.	.	ENSG00000164199	ENST00000509621	.	.	.	5.48	-0.0199	0.13958	.	.	.	.	.	T	0.50616	0.1626	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36817	-0.9732	4	.	.	.	.	5.0776	0.14640	0.4773:0.1396:0.0:0.3831	.	.	.	.	H	1112	.	.	L	+	2	0	GPR98	90076707	0.085000	0.21516	0.936000	0.37596	0.563000	0.35712	-0.057000	0.11768	-0.001000	0.14495	0.528000	0.53228	CTT		0.408	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		9	287	0	0	0	0	9	287				
PSD2	84249	broad.mit.edu	37	5	139193154	139193154	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:139193154C>A	ENST00000274710.3	+	3	837	c.632C>A	c.(631-633)gCa>gAa	p.A211E		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	211					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACATGGGGGCAGCTGGTGGT	0.687																																						uc003leu.1		NA																	0				ovary(1)	1						c.(631-633)GCA>GAA		pleckstrin and Sec7 domain containing 2							28.0	35.0	32.0					5																	139193154		2200	4297	6497	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139193154C>A	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.632C>A	5.37:g.139193154C>A	ENSP00000274710:p.Ala211Glu						p.A211E	NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	837	+			211					D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.632C>A	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519709	0.44866	.	.	ENSG00000146005	ENST00000274710	T	0.13089	2.62	4.52	4.52	0.55395	.	0.571817	0.16761	N	0.200595	T	0.14657	0.0354	L	0.43152	1.355	0.30752	N	0.744966	B	0.21225	0.053	B	0.14023	0.01	T	0.02958	-1.1089	10	0.44086	T	0.13	.	15.7681	0.78143	0.0:1.0:0.0:0.0	.	211	Q9BQI7	PSD2_HUMAN	E	211	ENSP00000274710:A211E	ENSP00000274710:A211E	A	+	2	0	PSD2	139173338	0.654000	0.27367	0.961000	0.40146	0.613000	0.37349	0.856000	0.27818	2.214000	0.71695	0.462000	0.41574	GCA		0.687	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		4	52	1	0	0.000602214	0.000674923	4	52				
PCDHB7	56129	broad.mit.edu	37	5	140553868	140553868	+	Silent	SNP	C	C	T	rs149570059		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:140553868C>T	ENST00000231137.3	+	1	1626	c.1452C>T	c.(1450-1452)gcC>gcT	p.A484A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACCAACGCCCAGGTCATCT	0.642																																						uc003lit.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1450-1452)GCC>GCT		protocadherin beta 7 precursor		C		2,4404	4.2+/-10.8	0,2,2201	103.0	101.0	102.0		1452	-0.0	1.0	5	dbSNP_134	102	0,8600		0,0,4300	no	coding-synonymous	PCDHB7	NM_018940.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		484/794	140553868	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553868C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1452C>T	5.37:g.140553868C>T							p.A484A	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1626	+			484			Extracellular (Potential).|Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1452C>T	CCDS4249.1																																																																																				0.642	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		28	112	0	0	0	0	28	112				
SPINK5	11005	broad.mit.edu	37	5	147513386	147513386	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:147513386G>A	ENST00000256084.7	+	32	3164	c.3122G>A	c.(3121-3123)cGc>cAc	p.R1041H	SPINK5_ENST00000359874.3_Missense_Mutation_p.R1071H	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	1041	Kazal-like 15. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACACATCCGCAGTACAGGG	0.468																																						uc003lox.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(3121-3123)CGC>CAC		serine peptidase inhibitor, Kazal type 5 isoform							81.0	93.0	89.0					5																	147513386		2099	4240	6339	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147513386G>A	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.3122G>A	5.37:g.147513386G>A	ENSP00000256084:p.Arg1041His					SPINK5_uc003loy.2_Missense_Mutation_p.R1071H	p.R1041H	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		32	3195	+			1041			Kazal-like 15.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.3122G>A	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	4.777	0.144445	0.09134	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	T;T	0.75050	-0.9;-0.9	4.93	-1.89	0.07689	Proteinase inhibitor I1, Kazal (2);	0.588542	0.15895	N	0.239351	T	0.52191	0.1719	L	0.29908	0.895	0.09310	N	1	B;B	0.32409	0.37;0.169	B;B	0.28232	0.087;0.032	T	0.39272	-0.9622	10	0.42905	T	0.14	-1.1498	3.3529	0.07159	0.2769:0.0:0.2749:0.4482	.	1071;1041	Q9NQ38-3;Q9NQ38	.;ISK5_HUMAN	H	1071;1041	ENSP00000352936:R1071H;ENSP00000256084:R1041H	ENSP00000256084:R1041H	R	+	2	0	SPINK5	147493579	0.001000	0.12720	0.023000	0.16930	0.006000	0.05464	-0.198000	0.09505	-0.177000	0.10690	-0.781000	0.03364	CGC		0.468	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		14	44	0	0	0	0	14	44				
FAT2	2196	broad.mit.edu	37	5	150885203	150885203	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:150885203G>A	ENST00000261800.5	-	23	12985	c.12973C>T	c.(12973-12975)Ccc>Tcc	p.P4325S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4325					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)			GGCACCCGGGGCTGGCCCTGG	0.622																																						uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(12973-12975)CCC>TCC		FAT tumor suppressor 2 precursor							26.0	30.0	29.0					5																	150885203		2201	4300	6501	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150885203G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12973C>T	5.37:g.150885203G>A	ENSP00000261800:p.Pro4325Ser					GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.P932S	p.P4325S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	12986	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4325			Cytoplasmic (Potential).		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.12973C>T	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.629|9.629	1.135838|1.135838	0.21123|0.21123	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.71341	.|-0.56	4.09|4.09	4.09|4.09	0.47781|0.47781	.|.	.|0.200518	.|0.35349	.|N	.|0.003266	T|T	0.63698|0.63698	0.2533|0.2533	L|L	0.54323|0.54323	1.7|1.7	0.32139|0.32139	N|N	0.5857|0.5857	.|B;B	.|0.15719	.|0.014;0.008	.|B;B	.|0.12837	.|0.008;0.003	T|T	0.61520|0.61520	-0.7046|-0.7046	5|10	.|0.07644	.|T	.|0.81	.|.	17.1722|17.1722	0.86833|0.86833	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|4325;1430	.|Q9NYQ8;E9PDJ8	.|FAT2_HUMAN;.	V|S	1097|4325	.|ENSP00000261800:P4325S	.|ENSP00000261800:P4325S	A|P	-|-	2|1	0|0	FAT2|FAT2	150865396|150865396	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.368000|0.368000	0.29767|0.29767	3.879000|3.879000	0.56138|0.56138	2.211000|2.211000	0.71520|0.71520	0.561000|0.561000	0.74099|0.74099	GCC|CCC		0.622	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		16	18	0	0	0	0	16	18				
HRH2	3274	broad.mit.edu	37	5	175110708	175110708	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:175110708T>A	ENST00000231683.2	+	1	2245	c.472T>A	c.(472-474)Tgg>Agg	p.W158R	HRH2_ENST00000377291.2_Missense_Mutation_p.W158R	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	158					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	CCACCTGGGGTGGAACAGCAG	0.547																																						uc003mdd.2		NA																	0				ovary(1)	1						c.(472-474)TGG>AGG		histamine receptor H2 isoform 2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						120.0	99.0	106.0					5																	175110708		2203	4300	6503	SO:0001583	missense	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110708T>A		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.472T>A	5.37:g.175110708T>A	ENSP00000231683:p.Trp158Arg					HRH2_uc003mdc.3_Missense_Mutation_p.W158R	p.W158R	NM_022304	NP_071640	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2245	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	158			Helical; Name=4; (Potential).		B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.472T>A	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132157	0.77662	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.37915	1.17;1.17	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63224	0.2493	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.992;0.998	T	0.69247	-0.5195	10	0.72032	D	0.01	.	14.394	0.66999	0.0:0.0:0.0:1.0	.	158;158	P25021;Q7Z5R9	HRH2_HUMAN;.	R	158	ENSP00000366506:W158R;ENSP00000231683:W158R	ENSP00000231683:W158R	W	+	1	0	HRH2	175043314	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	6.243000	0.72384	2.005000	0.58758	0.379000	0.24179	TGG		0.547	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			15	43	0	0	0	0	15	43				
BTNL9	153579	broad.mit.edu	37	5	180483002	180483002	+	Silent	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:180483002T>G	ENST00000327705.9	+	9	1173	c.942T>G	c.(940-942)gcT>gcG	p.A314A	BTNL9_ENST00000376841.2_Silent_p.A314A|BTNL9_ENST00000376842.3_Silent_p.A315A	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	314	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGACGGGCTGAAGGCCAGG	0.522																																						uc003mmt.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(940-942)GCT>GCG		butyrophilin-like 9 precursor							290.0	234.0	253.0					5																	180483002		2203	4300	6503	SO:0001819	synonymous_variant	153579					integral to membrane		g.chr5:180483002T>G	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.942T>G	5.37:g.180483002T>G							p.A314A	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1173	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	314			Cytoplasmic (Potential).|B30.2/SPRY.|Potential.		A6NL42|Q6P660|Q96DM5	Silent	SNP	ENST00000327705.9	37	c.942T>G	CCDS4460.2																																																																																				0.522	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		4	172	0	0	0	0	4	172				
SLC17A1	6568	broad.mit.edu	37	6	25826725	25826725	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:25826725G>A	ENST00000244527.4	-	3	286	c.171C>T	c.(169-171)ccC>ccT	p.P57P	SLC17A1_ENST00000476801.1_Silent_p.P57P|SLC17A1_ENST00000427328.1_Silent_p.P57P|SLC17A1_ENST00000468082.1_Silent_p.P57P	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	57					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TGGAGGTGTTGGGCAAACCAT	0.408																																						uc003nfh.3		NA																	0				ovary(3)|pancreas(1)	4						c.(169-171)CCC>CCT		solute carrier family 17 (sodium phosphate),							200.0	181.0	188.0					6																	25826725		2203	4300	6503	SO:0001819	synonymous_variant	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25826725G>A		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.171C>T	6.37:g.25826725G>A						SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Silent_p.P55P|SLC17A1_uc010jqc.1_Silent_p.P55P	p.P57P	NM_005074	NP_005065	Q14916	NPT1_HUMAN			3	287	-			57					A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Silent	SNP	ENST00000244527.4	37	c.171C>T	CCDS4565.1																																																																																				0.408	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			56	176	0	0	0	0	56	176				
HIST1H3E	8353	broad.mit.edu	37	6	26225492	26225492	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:26225492A>T	ENST00000360408.1	+	1	110	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	37					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)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GGCGGCGTGAAGAAGCCCCAT	0.627																																						uc003nhb.2		NA																	0					0						c.(109-111)AAG>ATG		histone cluster 1, H3f							50.0	51.0	51.0					6																	26225492		2203	4300	6503	SO:0001583	missense	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225492A>T	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"""Histones / Replication-dependent"""	4769	protein-coding gene	gene with protein product		602813	"""H3 histone family, member D"", ""histone 1, H3e"""	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.110A>T	6.37:g.26225492A>T	ENSP00000353581:p.Lys37Met					HIST1H3E_uc003nhc.3_Missense_Mutation_p.K37M	p.K37M	NM_021018	NP_066298	P68431	H31_HUMAN			2	470	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	37					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000360408.1	37	c.110A>T	CCDS4596.1	.	.	.	.	.	.	.	.	.	.	.	11.70	1.716836	0.30413	.	.	ENSG00000196966	ENST00000360408	T	0.56776	0.44	4.45	3.29	0.37713	.	.	.	.	.	T	0.48804	0.1520	.	.	.	0.37886	D	0.930569	.	.	.	.	.	.	T	0.55010	-0.8207	6	0.87932	D	0	.	9.2001	0.37254	0.9133:0.0:0.0867:0.0	.	.	.	.	M	37	ENSP00000353581:K37M	ENSP00000353581:K37M	K	+	2	0	HIST1H3E	26333471	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	7.116000	0.77119	0.874000	0.35823	0.402000	0.26972	AAG		0.627	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		87	56	0	0	0	0	87	56				
OR5V1	81696	broad.mit.edu	37	6	29323045	29323045	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:29323045G>C	ENST00000377154.1	-	4	1227	c.928C>G	c.(928-930)Cca>Gca	p.P310A	OR5V1_ENST00000543825.1_Missense_Mutation_p.P310A			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAAATTGGTGGCTGCCACTTG	0.368																																					Ovarian(32;43 883 21137 32120 42650)	uc011dlo.1		NA																	0				ovary(3)|kidney(1)	4						c.(928-930)CCA>GCA		olfactory receptor, family 5, subfamily V,							84.0	83.0	83.0					6																	29323045		2203	4300	6503	SO:0001583	missense	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323045G>C		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.928C>G	6.37:g.29323045G>C	ENSP00000366359:p.Pro310Ala						p.P310A	NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN			1	1010	-			310			Cytoplasmic (Potential).		A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	c.928C>G	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	G	8.722	0.914576	0.17907	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.36878	1.23;1.23	4.05	1.17	0.20885	.	.	.	.	.	T	0.06690	0.0171	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.41448	-0.9508	9	0.13470	T	0.59	5.2944	4.9693	0.14108	0.2025:0.1753:0.6222:0.0	.	310	Q9UGF6	OR5V1_HUMAN	A	310	ENSP00000366359:P310A;ENSP00000443309:P310A	ENSP00000366356:P310A	P	-	1	0	OR5V1	29431024	0.000000	0.05858	0.000000	0.03702	0.466000	0.32739	0.033000	0.13754	0.107000	0.17824	0.543000	0.68304	CCA		0.368	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			4	113	0	0	0	0	4	113				
HSPA1L	3305	broad.mit.edu	37	6	31778509	31778509	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:31778509G>T	ENST00000375654.4	-	2	1430	c.1241C>A	c.(1240-1242)gCc>gAc	p.A414D	HSPA1L_ENST00000417199.3_Missense_Mutation_p.A414D	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	414					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTTTATCAGGGCAGTCATCAC	0.597																																						uc003nxh.2		NA																	0				ovary(3)|pleura(1)|kidney(1)|skin(1)	6						c.(1240-1242)GCC>GAC		heat shock 70kDa protein 1-like							91.0	86.0	88.0					6																	31778509		2203	4300	6503	SO:0001583	missense	3305				response to unfolded protein		ATP binding	g.chr6:31778509G>T	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1241C>A	6.37:g.31778509G>T	ENSP00000364805:p.Ala414Asp					HSPA1L_uc010jte.2_Missense_Mutation_p.A414D	p.A414D	NM_005527	NP_005518	P34931	HS71L_HUMAN			2	1424	-			414					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.1241C>A	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	G	8.715	0.912938	0.17907	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.00995	5.46;5.46	5.2	-1.89	0.07689	.	0.565520	0.13267	N	0.400832	T	0.01254	0.0041	M	0.89214	3.015	0.28226	N	0.926322	B	0.30686	0.29	B	0.43018	0.405	T	0.09930	-1.0652	10	0.72032	D	0.01	-8.1641	9.9466	0.41613	0.5593:0.0:0.4407:0.0	.	414	P34931	HS71L_HUMAN	D	414;414;359	ENSP00000364805:A414D;ENSP00000387691:A414D	ENSP00000364804:A359D	A	-	2	0	HSPA1L	31886488	0.029000	0.19370	0.643000	0.29450	0.108000	0.19459	1.120000	0.31271	-0.134000	0.11516	-0.438000	0.05819	GCC		0.597	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			21	226	1	0	2.38e-13	2.97e-13	21	226				
TAP1	6890	broad.mit.edu	37	6	32819997	32819997	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:32819997C>T	ENST00000354258.4	-	3	1074	c.913G>A	c.(913-915)Ggt>Agt	p.G305S	PSMB9_ENST00000453265.2_5'Flank|TAP1_ENST00000425148.2_Missense_Mutation_p.G44S|PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000374859.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	305	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	ATCCCGTCACCCACGAACTCC	0.537																																						uc003ocg.2		NA																	0				skin(1)	1						c.(913-915)GGT>AGT		transporter 1, ATP-binding cassette, sub-family							98.0	90.0	93.0					6																	32819997		1510	2709	4219	SO:0001583	missense	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.chr6:32819997C>T		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.913G>A	6.37:g.32819997C>T	ENSP00000346206:p.Gly305Ser					TAP1_uc011dqi.1_Missense_Mutation_p.G44S|PSMB9_uc011dqj.1_5'Flank|PSMB9_uc003sga.2_5'Flank	p.G305S	NM_000593	NP_000584	Q03518	TAP1_HUMAN			3	1068	-			305			Helical; Name=6; (Potential).|ABC transmembrane type-1.		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.913G>A	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	C	9.646	1.140290	0.21205	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.89196	-2.48;-2.48	4.78	2.92	0.33932	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.578753	0.12932	N	0.427305	T	0.63510	0.2517	N	0.25144	0.715	0.21967	N	0.999446	B	0.17038	0.02	B	0.26310	0.068	T	0.53450	-0.8437	10	0.17832	T	0.49	-8.9215	5.7639	0.18215	0.3392:0.569:0.0:0.0918	.	305	Q03518	TAP1_HUMAN	S	305;44	ENSP00000346206:G305S;ENSP00000401919:G44S	ENSP00000346206:G305S	G	-	1	0	TAP1	32927975	0.719000	0.27986	0.002000	0.10522	0.017000	0.09413	2.507000	0.45442	0.551000	0.29008	0.551000	0.68910	GGT		0.537	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		9	123	0	0	0	0	9	123				
ZNF318	24149	broad.mit.edu	37	6	43305026	43305026	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:43305026T>G	ENST00000361428.2	-	10	6787	c.6710A>C	c.(6709-6711)aAa>aCa	p.K2237T	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2237					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CACTGGAGCTTTAACCAAATT	0.493																																						uc003oux.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(6709-6711)AAA>ACA		zinc finger protein 318							100.0	88.0	92.0					6																	43305026		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305026T>G	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6710A>C	6.37:g.43305026T>G	ENSP00000354964:p.Lys2237Thr					ZNF318_uc003ouw.2_Intron	p.K2237T	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6788	-			2237					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.6710A>C	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	T	8.693	0.907857	0.17833	.	.	ENSG00000171467	ENST00000361428	T	0.14144	2.53	5.19	2.71	0.32032	.	0.337088	0.25890	N	0.027635	T	0.08980	0.0222	L	0.32530	0.975	0.21325	N	0.999725	D	0.63880	0.993	D	0.63033	0.91	T	0.11991	-1.0565	10	0.46703	T	0.11	-7.414	6.6646	0.23032	0.0:0.079:0.1541:0.7668	.	2237	Q5VUA4	ZN318_HUMAN	T	2237	ENSP00000354964:K2237T	ENSP00000354964:K2237T	K	-	2	0	ZNF318	43413004	0.700000	0.27796	0.375000	0.26029	0.062000	0.15995	1.902000	0.39848	0.286000	0.22352	0.533000	0.62120	AAA		0.493	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		5	119	0	0	0	0	5	119				
AARS2	57505	broad.mit.edu	37	6	44272035	44272035	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:44272035C>T	ENST00000244571.4	-	14	1892	c.1890G>A	c.(1888-1890)gcG>gcA	p.A630A	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|AARS2_ENST00000491573.1_5'Flank	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCGTATGCTTCGCCATGCAGC	0.627											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010jza.1		NA																	0				ovary(1)	1						c.(1888-1890)GCG>GCA		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						70.0	70.0	70.0					6																	44272035		2203	4300	6503	SO:0001819	synonymous_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44272035C>T	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1890G>A	6.37:g.44272035C>T			OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.A630A	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		14	1893	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		630						Silent	SNP	ENST00000244571.4	37	c.1890G>A	CCDS34464.1																																																																																				0.627	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		13	78	0	0	0	0	13	78				
FAM162B	221303	broad.mit.edu	37	6	117086362	117086362	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:117086362G>A	ENST00000368557.4	-	2	375	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	77						integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)	6						GTCCACAGCAGGATTTTCTTG	0.632																																						uc003pxi.2		NA																	0					0						c.(229-231)CTG>TTG		hypothetical protein LOC221303							61.0	68.0	65.0					6																	117086362		2162	4280	6442	SO:0001819	synonymous_variant	221303					integral to membrane		g.chr6:117086362G>A	BC038997	CCDS43497.1	6q22.31	2014-01-28	2008-06-05	2008-06-05	ENSG00000183807	ENSG00000183807			21549	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 189"""	C6orf189			Standard	NM_001085480		Approved	bA86F4.2	uc003pxi.2	Q5T6X4	OTTHUMG00000015446	ENST00000368557.4:c.229C>T	6.37:g.117086362G>A							p.L77L	NM_001085480	NP_001078949	Q5T6X4	F162B_HUMAN			2	376	-			77					Q8IXW8	Silent	SNP	ENST00000368557.4	37	c.229C>T	CCDS43497.1																																																																																				0.632	FAM162B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041965.1	XM_927381		14	48	0	0	0	0	14	48				
FNDC1	84624	broad.mit.edu	37	6	159687230	159687230	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:159687230T>C	ENST00000297267.9	+	21	5599	c.5399T>C	c.(5398-5400)cTt>cCt	p.L1800P	FNDC1_ENST00000340366.6_Missense_Mutation_p.L1737P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1800					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGAGTTGTTCTTTGTAATTCA	0.443																																						uc010kjv.2		NA																	0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(5398-5400)CTT>CCT		fibronectin type III domain containing 1							153.0	149.0	150.0					6																	159687230		1920	4131	6051	SO:0001583	missense	84624					extracellular region		g.chr6:159687230T>C	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5399T>C	6.37:g.159687230T>C	ENSP00000297267:p.Leu1800Pro						p.L1800P	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	21	5599	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1800					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.5399T>C	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.755103	0.89843	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.60040	0.22;0.22	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.69949	0.3168	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70757	-0.4785	9	.	.	.	-25.4861	16.6407	0.85098	0.0:0.0:0.0:1.0	.	1800	Q4ZHG4	FNDC1_HUMAN	P	1800;1737	ENSP00000297267:L1800P;ENSP00000342460:L1737P	.	L	+	2	0	FNDC1	159607220	1.000000	0.71417	0.866000	0.34008	0.997000	0.91878	7.946000	0.87746	2.326000	0.78906	0.533000	0.62120	CTT		0.443	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		26	72	0	0	0	0	26	72				
PLG	5340	broad.mit.edu	37	6	161143527	161143527	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:161143527G>T	ENST00000308192.9	+	10	1247	c.1184G>T	c.(1183-1185)gGa>gTa	p.G395V		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	395	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACCACCACAGGAAAGAAGTGT	0.493																																						uc003qtm.3		NA																	0				skin(3)|ovary(1)	4						c.(1183-1185)GGA>GTA		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						142.0	128.0	133.0					6																	161143527		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161143527G>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1184G>T	6.37:g.161143527G>T	ENSP00000308938:p.Gly395Val						p.G395V	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	10	1247	+			395			Kringle 4.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.1184G>T	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099755	0.76983	.	.	ENSG00000122194	ENST00000308192	T	0.80033	-1.33	5.18	5.18	0.71444	Kringle (5);Kringle-like fold (1);	0.000000	0.38837	U	0.001557	D	0.94056	0.8095	H	0.99261	4.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96595	0.9440	10	0.87932	D	0	.	17.4468	0.87580	0.0:0.0:1.0:0.0	.	395	P00747	PLMN_HUMAN	V	395	ENSP00000308938:G395V	ENSP00000308938:G395V	G	+	2	0	PLG	161063517	1.000000	0.71417	0.086000	0.20670	0.861000	0.49209	7.875000	0.87205	2.413000	0.81919	0.467000	0.42956	GGA		0.493	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		11	112	1	0	3.86e-05	4.48e-05	11	112				
C7orf50	84310	broad.mit.edu	37	7	1037377	1037377	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:1037377C>A	ENST00000397098.3	-	5	1395	c.469G>T	c.(469-471)Gag>Tag	p.E157*	C7orf50_ENST00000397100.2_Nonsense_Mutation_p.E157*|C7orf50_ENST00000357429.6_Nonsense_Mutation_p.E157*|C7orf50_ENST00000488073.1_5'UTR			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	157							poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		ACCGTCAGCTCTCGGGCCCGG	0.687																																						uc003sju.2		NA																	0					0						c.(469-471)GAG>TAG		hypothetical protein LOC84310							38.0	46.0	43.0					7																	1037377		2203	4294	6497	SO:0001587	stop_gained	84310						protein binding	g.chr7:1037377C>A	BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.469G>T	7.37:g.1037377C>A	ENSP00000380286:p.Glu157*					C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Nonsense_Mutation_p.E157*|C7orf50_uc011jvu.1_Nonsense_Mutation_p.E157*	p.E157*	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)	5	539	-		Ovarian(82;0.0779)	157						Nonsense_Mutation	SNP	ENST00000397098.3	37	c.469G>T	CCDS5320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.76|12.76	2.033656|2.033656	0.35893|0.35893	.|.	.|.	ENSG00000146540|ENSG00000146540	ENST00000397100;ENST00000397098;ENST00000357429;ENST00000444428;ENST00000491163|ENST00000412051	.|.	.|.	.|.	5.61|5.61	3.77|3.77	0.43336|0.43336	.|.	0.061274|.	0.64402|.	D|.	0.000008|.	.|T	.|0.64768	.|0.2628	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65311	.|-0.6199	.|5	0.16420|0.87932	T|D	0.52|0	-32.3434|-32.3434	8.9343|8.9343	0.35691|0.35691	0.0:0.7668:0.1509:0.0823|0.0:0.7668:0.1509:0.0823	.|.	.|.	.|.	.|.	X|I	157;157;157;125;157|141	.|.	ENSP00000350011:E157X|ENSP00000407380:R141I	E|R	-|-	1|2	0|0	C7orf50|C7orf50	1003903|1003903	0.680000|0.680000	0.27605|0.27605	0.570000|0.570000	0.28473|0.28473	0.121000|0.121000	0.20230|0.20230	1.718000|1.718000	0.38001|0.38001	0.706000|0.706000	0.31912|0.31912	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.687	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322817.3	NM_032350		5	100	1	0	0.00116845	0.00129929	5	100				
CHST12	55501	broad.mit.edu	37	7	2472365	2472365	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:2472365G>A	ENST00000258711.6	+	2	226	c.91G>A	c.(91-93)Gcc>Acc	p.A31T		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	31					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CAGCGCAGGCGCCGCGCACTT	0.687																																						uc003smc.2		NA																	0				kidney(1)	1						c.(91-93)GCC>ACC		carbohydrate sulfotransferase 12							72.0	67.0	68.0					7																	2472365		2203	4300	6503	SO:0001583	missense	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2472365G>A	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.91G>A	7.37:g.2472365G>A	ENSP00000258711:p.Ala31Thr					CHST12_uc003smd.2_Missense_Mutation_p.A31T	p.A31T	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	226	+		Ovarian(82;0.0253)	31			Lumenal (Potential).		A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.91G>A	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	G	1.685	-0.505461	0.04261	.	.	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.61392	0.11;0.97	5.11	1.41	0.22369	.	0.242042	0.41605	N	0.000853	T	0.20861	0.0502	N	0.01705	-0.755	0.23661	N	0.997175	B	0.11235	0.004	B	0.04013	0.001	T	0.31166	-0.9953	10	0.02654	T	1	-6.3445	5.7544	0.18164	0.7037:0.1424:0.154:0.0	.	31	Q9NRB3	CHSTC_HUMAN	T	31	ENSP00000258711:A31T;ENSP00000411207:A31T	ENSP00000258711:A31T	A	+	1	0	CHST12	2438891	0.995000	0.38212	0.937000	0.37676	0.173000	0.22820	2.195000	0.42677	0.007000	0.14760	-0.377000	0.06932	GCC		0.687	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		68	63	0	0	0	0	68	63				
THSD7A	221981	broad.mit.edu	37	7	11630196	11630196	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:11630196G>A	ENST00000423059.4	-	4	1595	c.1344C>T	c.(1342-1344)cgC>cgT	p.R448R		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	448	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTGGTTGCCGCGCCTCTTGT	0.557										HNSCC(18;0.044)																												uc003ssf.3		NA																	0				ovary(3)	3						c.(1342-1344)CGC>CGT		thrombospondin, type I, domain containing 7A							50.0	55.0	54.0					7																	11630196		1993	4165	6158	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11630196G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1344C>T	7.37:g.11630196G>A		HNSCC(18;0.044)					p.R448R	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	4	1596	-			448			Extracellular (Potential).|TSP type-1 4.			Silent	SNP	ENST00000423059.4	37	c.1344C>T	CCDS47543.1																																																																																				0.557	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		10	48	0	0	0	0	10	48				
DFNA5	1687	broad.mit.edu	37	7	24758712	24758712	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:24758712T>A	ENST00000342947.3	-	4	955	c.530A>T	c.(529-531)gAg>gTg	p.E177V	DFNA5_ENST00000545231.1_Missense_Mutation_p.E13V|DFNA5_ENST00000409775.3_Missense_Mutation_p.E177V|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000419307.1_Missense_Mutation_p.E13V|DFNA5_ENST00000409970.1_Missense_Mutation_p.E13V	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	177					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						ACACTTCTCCTCGACCTGCAT	0.577																																					GBM(78;184 1250 20134 20900 23600)	uc010kus.1		NA																	0				ovary(1)	1						c.(529-531)GAG>GTG		deafness, autosomal dominant 5 protein isoform							240.0	187.0	205.0					7																	24758712		2203	4300	6503	SO:0001583	missense	1687				sensory perception of sound			g.chr7:24758712T>A	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.530A>T	7.37:g.24758712T>A	ENSP00000339587:p.Glu177Val					DFNA5_uc003swz.2_Missense_Mutation_p.E13V|DFNA5_uc003sxa.1_Missense_Mutation_p.E177V|DFNA5_uc010kut.1_Missense_Mutation_p.E13V|DFNA5_uc003sxb.2_Missense_Mutation_p.E177V	p.E177V	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN			4	618	-			177					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	37	c.530A>T	CCDS5389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.86|14.86	2.661561|2.661561	0.47572|0.47572	.|.	.|.	ENSG00000105928|ENSG00000105928	ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775;ENST00000414428|ENST00000446822	T;T;T;T;T;D|.	0.82081|.	1.68;1.68;1.68;1.68;1.68;-1.57|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.174136|.	0.51477|.	D|.	0.000098|.	T|T	0.72906|0.72906	0.3519|0.3519	M|M	0.73962|0.73962	2.25|2.25	0.48632|0.48632	D|D	0.999684|0.999684	D;D|.	0.57899|.	0.981;0.981|.	P;P|.	0.54210|.	0.745;0.745|.	T|T	0.73892|0.73892	-0.3839|-0.3839	10|5	0.51188|.	T|.	0.08|.	-33.9991|-33.9991	12.9681|12.9681	0.58497|0.58497	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	177;177|.	A4FTY0;O60443|.	.;DFNA5_HUMAN|.	V|W	177;13;13;13;177;13|2	ENSP00000339587:E177V;ENSP00000401332:E13V;ENSP00000442661:E13V;ENSP00000387119:E13V;ENSP00000386670:E177V;ENSP00000413963:E13V|.	ENSP00000339587:E177V|.	E|R	-|-	2|1	0|2	DFNA5|DFNA5	24725237|24725237	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.034000|0.034000	0.12701|0.12701	3.136000|3.136000	0.50554|0.50554	1.956000|1.956000	0.56807|0.56807	0.533000|0.533000	0.62120|0.62120	GAG|AGG		0.577	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		29	135	0	0	0	0	29	135				
ELMO1	9844	broad.mit.edu	37	7	37250998	37250998	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:37250998C>T	ENST00000310758.4	-	13	1726	c.1079G>A	c.(1078-1080)gGg>gAg	p.G360E	ELMO1_ENST00000442504.1_Missense_Mutation_p.G360E|ELMO1_ENST00000448602.1_Missense_Mutation_p.G360E	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	360	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TACAATGAACCCAAGCTTCTT	0.507																																						uc003tfk.1		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(1078-1080)GGG>GAG		engulfment and cell motility 1 isoform 1							174.0	126.0	142.0					7																	37250998		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37250998C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1079G>A	7.37:g.37250998C>T	ENSP00000312185:p.Gly360Glu					ELMO1_uc011kbc.1_Missense_Mutation_p.G264E|ELMO1_uc010kxg.1_Missense_Mutation_p.G360E	p.G360E	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			13	1386	-			360			ELMO.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.1079G>A	CCDS5449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.402946|4.402946	0.83230|0.83230	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000424212|ENST00000433246	D;D;D;D|D	0.89875|0.89875	-2.58;-2.58;-2.58;-2.58|-2.58	5.13|5.13	5.13|5.13	0.70059|0.70059	Engulfment/cell motility, ELMO (2);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.93792|0.93792	0.8015|0.8015	M|M	0.75150|0.75150	2.29|2.29	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.94111|0.94111	0.7371|0.7371	10|8	0.87932|0.87932	D|D	0|0	.|.	19.4682|19.4682	0.94951|0.94951	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	360|.	Q92556|.	ELMO1_HUMAN|.	E|S	360;264;360;360;101|140	ENSP00000312185:G360E;ENSP00000406952:G360E;ENSP00000394458:G360E;ENSP00000395933:G101E|ENSP00000413108:G140S	ENSP00000312185:G360E|ENSP00000413108:G140S	G|G	-|-	2|1	0|0	ELMO1|ELMO1	37217523|37217523	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.461000|0.461000	0.32589|0.32589	7.756000|7.756000	0.85195|0.85195	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GGG|GGT		0.507	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		4	52	0	0	0	0	4	52				
SEMA3A	10371	broad.mit.edu	37	7	83592582	83592582	+	Missense_Mutation	SNP	T	T	A	rs535486545		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:83592582T>A	ENST00000265362.4	-	16	2113	c.1799A>T	c.(1798-1800)aAg>aTg	p.K600M	SEMA3A_ENST00000436949.1_Missense_Mutation_p.K600M	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	600	Ig-like C2-type.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TCTCTGCGACTTCGGACTGCA	0.438																																						uc003uhz.2		NA																	0				ovary(2)|breast(1)|kidney(1)	4						c.(1798-1800)AAG>ATG		semaphorin 3A precursor							159.0	153.0	155.0					7																	83592582		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83592582T>A	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1799A>T	7.37:g.83592582T>A	ENSP00000265362:p.Lys600Met						p.K600M	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			16	2114	-			600			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000265362.4	37	c.1799A>T	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.722216	0.68959	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.01572	4.76;4.76	6.05	4.89	0.63831	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.040275	0.85682	D	0.000000	T	0.09247	0.0228	M	0.79123	2.44	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.00611	-1.1645	10	0.66056	D	0.02	.	12.0491	0.53498	0.0:0.067:0.0:0.933	.	600	Q14563	SEM3A_HUMAN	M	600	ENSP00000265362:K600M;ENSP00000415260:K600M	ENSP00000265362:K600M	K	-	2	0	SEMA3A	83430518	1.000000	0.71417	0.827000	0.32855	0.680000	0.39746	4.787000	0.62432	1.109000	0.41680	0.528000	0.53228	AAG		0.438	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		34	85	0	0	0	0	34	85				
TRRAP	8295	broad.mit.edu	37	7	98548528	98548528	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:98548528C>G	ENST00000359863.4	+	38	5552	c.5343C>G	c.(5341-5343)ttC>ttG	p.F1781L	TRRAP_ENST00000355540.3_Missense_Mutation_p.F1763L|TRRAP_ENST00000446306.3_Missense_Mutation_p.F1762L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1781					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATCCTGCTTTCTTGTACAGCT	0.418																																						uc003upp.2		NA																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(5341-5343)TTC>TTG		transformation/transcription domain-associated							186.0	194.0	191.0					7																	98548528		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98548528C>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5343C>G	7.37:g.98548528C>G	ENSP00000352925:p.Phe1781Leu					TRRAP_uc011kis.1_Missense_Mutation_p.F1763L|TRRAP_uc003upr.2_Missense_Mutation_p.F1480L	p.F1781L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		38	5552	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1781					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.5343C>G	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.37|16.37	3.105059|3.105059	0.56291|0.56291	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.01647|.	4.72;4.71|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61073|0.61073	0.2318|0.2318	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	D;P;P|.	0.63046|.	0.992;0.671;0.671|.	P;B;B|.	0.59487|.	0.858;0.145;0.145|.	T|T	0.57400|0.57400	-0.7818|-0.7818	10|5	0.06099|.	T|.	0.92|.	.|.	12.8827|12.8827	0.58026|0.58026	0.0:0.9258:0.0:0.0742|0.0:0.9258:0.0:0.0742	.|.	1763;1502;1781|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	L|C	1781;1763;1761|1503	ENSP00000352925:F1781L;ENSP00000347733:F1763L|.	ENSP00000347733:F1763L|.	F|S	+|+	3|2	2|0	TRRAP|TRRAP	98386464|98386464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	4.865000|4.865000	0.62998|0.62998	2.653000|2.653000	0.90120|0.90120	0.561000|0.561000	0.74099|0.74099	TTC|TCT		0.418	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		7	207	0	0	0	0	7	207				
ST7	7982	broad.mit.edu	37	7	116869938	116869938	+	3'UTR	SNP	A	A	C	rs201022134		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:116869938A>C	ENST00000393446.2	+	0	1902				ST7_ENST00000393449.1_3'UTR|ST7_ENST00000393444.3_3'UTR|ST7_ENST00000393443.1_3'UTR|ST7_ENST00000393451.3_3'UTR|ST7_ENST00000432298.1_3'UTR|ST7_ENST00000393447.4_3'UTR|ST7_ENST00000323984.3_3'UTR|ST7_ENST00000422922.1_3'UTR			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCACCTCACCCGCCGCTG	0.507																																						uc011knn.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1465-1467)ACC>CCC		suppression of tumorigenicity 7 isoform b							60.0	58.0	59.0					7																	116869938		2203	4300	6503	SO:0001624	3_prime_UTR_variant	7982					integral to membrane	binding	g.chr7:116869938A>C	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.*27A>C	7.37:g.116869938A>C						ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	p.T489P	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	14	1470	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		Error:Variant_position_missing_in_Q9NRC1_after_alignment					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000393446.2	37	c.1465A>C		.	.	.	.	.	.	.	.	.	.	A	3.912	-0.019789	0.07634	.	.	ENSG00000004866	ENST00000446490;ENST00000490039	T;T	0.20069	2.1;2.1	4.85	-9.7	0.00521	.	.	.	.	.	T	0.12902	0.0313	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16988	-1.0384	8	0.87932	D	0	.	8.0486	0.30564	0.3268:0.2885:0.3847:0.0	.	489	C9JU30	.	P	487;489	ENSP00000402934:T487P;ENSP00000419516:T489P	ENSP00000402934:T487P	T	+	1	0	ST7	116657174	0.000000	0.05858	0.008000	0.14137	0.044000	0.14063	-0.532000	0.06164	-1.939000	0.01044	-1.252000	0.01501	ACC		0.507	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1	NM_021908		6	28	0	0	0	0	6	28				
MICU3	286097	broad.mit.edu	37	8	16948072	16948072	+	Silent	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:16948072A>T	ENST00000318063.5	+	8	909	c.867A>T	c.(865-867)ggA>ggT	p.G289G		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	289						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										AACTTTATGGATACCATTCTC	0.323																																						uc003wxd.2		NA																	0				skin(1)	1						c.(865-867)GGA>GGT		EF-hand domain family, member A2							238.0	244.0	242.0					8																	16948072		2203	4299	6502	SO:0001819	synonymous_variant	286097					integral to membrane	calcium ion binding	g.chr8:16948072A>T	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.867A>T	8.37:g.16948072A>T							p.G289G	NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN		Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)	8	909	+			289					Q8IYZ3	Silent	SNP	ENST00000318063.5	37	c.867A>T	CCDS5999.1																																																																																				0.323	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		6	241	0	0	0	0	6	241				
CHD7	55636	broad.mit.edu	37	8	61777711	61777711	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:61777711C>T	ENST00000423902.2	+	38	8692	c.8213C>T	c.(8212-8214)aCg>aTg	p.T2738M	CHD7_ENST00000524602.1_Missense_Mutation_p.T689M	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2738					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTGGCCTCCACGTCAGGGATC	0.612																																						uc003xue.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(8212-8214)ACG>ATG		chromodomain helicase DNA binding protein 7							22.0	25.0	24.0					8																	61777711		1966	4164	6130	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61777711C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8213C>T	8.37:g.61777711C>T	ENSP00000392028:p.Thr2738Met						p.T2738M	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		38	8690	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2738					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.8213C>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938568	0.92526	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602	D;T	0.81821	-1.54;2.01	5.57	5.57	0.84162	.	0.072184	0.56097	D	0.000038	T	0.81317	0.4797	L	0.44542	1.39	0.53688	D	0.999976	D	0.67145	0.996	P	0.48677	0.586	T	0.82868	-0.0244	10	0.59425	D	0.04	-14.4569	19.5289	0.95219	0.0:1.0:0.0:0.0	.	2738	Q9P2D1	CHD7_HUMAN	M	2738;2738;689	ENSP00000392028:T2738M;ENSP00000437061:T689M	ENSP00000307304:T2738M	T	+	2	0	CHD7	61940265	1.000000	0.71417	0.958000	0.39756	0.993000	0.82548	5.453000	0.66645	2.613000	0.88420	0.591000	0.81541	ACG		0.612	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		9	17	0	0	0	0	9	17				
ASPH	444	broad.mit.edu	37	8	62556539	62556539	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:62556539T>G	ENST00000379454.4	-	8	861	c.674A>C	c.(673-675)gAt>gCt	p.D225A	ASPH_ENST00000518068.1_Missense_Mutation_p.D182A|ASPH_ENST00000356457.5_Missense_Mutation_p.D225A|ASPH_ENST00000517847.2_Missense_Mutation_p.D211A|ASPH_ENST00000523897.1_5'Flank|ASPH_ENST00000517903.1_Missense_Mutation_p.D211A|ASPH_ENST00000522835.1_Missense_Mutation_p.D168A|ASPH_ENST00000541428.1_Missense_Mutation_p.D196A|ASPH_ENST00000445642.3_Missense_Mutation_p.D211A|ASPH_ENST00000522919.1_Missense_Mutation_p.D38A	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	225	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTCTTCCATATCCTGATTACA	0.328																																						uc003xuj.2		NA																	0				ovary(3)	3						c.(673-675)GAT>GCT		aspartate beta-hydroxylase isoform a	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						73.0	71.0	72.0					8																	62556539		2203	4298	6501	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62556539T>G	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.674A>C	8.37:g.62556539T>G	ENSP00000368767:p.Asp225Ala					ASPH_uc011leg.1_Missense_Mutation_p.D196A|ASPH_uc003xuo.2_Intron|ASPH_uc011leh.1_Intron|ASPH_uc003xul.2_Missense_Mutation_p.D211A|ASPH_uc011lei.1_Missense_Mutation_p.D211A|ASPH_uc011lej.1_Missense_Mutation_p.D168A|ASPH_uc003xun.2_Missense_Mutation_p.D182A|ASPH_uc011lek.1_Intron|ASPH_uc003xum.2_Missense_Mutation_p.D225A	p.D225A	NM_004318	NP_004309	Q12797	ASPH_HUMAN			8	943	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	225			Glu-rich.|Lumenal (Potential).		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.674A>C	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.707352	0.30322	.	.	ENSG00000198363	ENST00000541428;ENST00000379454;ENST00000522919;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835	T;T;T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.22	4.07	0.47477	Aspartyl beta-hydroxylase/Triadin domain (1);	0.453854	0.23395	N	0.048645	T	0.65770	0.2723	M	0.61703	1.905	0.19575	N	0.999962	D;D;P;D;D;D;P	0.89917	1.0;1.0;0.725;1.0;0.985;1.0;0.465	D;D;B;D;P;D;B	0.91635	0.999;0.995;0.334;0.995;0.785;0.995;0.268	T	0.56703	-0.7935	10	0.87932	D	0	-12.1688	7.7231	0.28744	0.0:0.095:0.0:0.905	.	168;211;196;182;225;211;225	B4DIC9;B7ZM95;F5H667;Q8TB28;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;ASPH_HUMAN	A	196;225;38;225;240;182;211;211;211;168	ENSP00000437864:D196A;ENSP00000368767:D225A;ENSP00000430516:D38A;ENSP00000348841:D225A;ENSP00000427823:D240A;ENSP00000429286:D182A;ENSP00000430245:D211A;ENSP00000394013:D211A;ENSP00000429954:D211A;ENSP00000429160:D168A	ENSP00000348841:D225A	D	-	2	0	ASPH	62719093	0.009000	0.17119	0.031000	0.17742	0.085000	0.17905	1.272000	0.33109	0.949000	0.37715	0.533000	0.62120	GAT		0.328	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		7	19	0	0	0	0	7	19				
VPS13B	157680	broad.mit.edu	37	8	100513997	100513997	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:100513997C>G	ENST00000358544.2	+	26	4064	c.3953C>G	c.(3952-3954)aCc>aGc	p.T1318S	VPS13B_ENST00000395996.1_Missense_Mutation_p.T1318S|VPS13B_ENST00000357162.2_Missense_Mutation_p.T1318S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1318					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTGGAGGAACCAGTGGACGT	0.423																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(3952-3954)ACC>AGC		vacuolar protein sorting 13B isoform 5							168.0	165.0	166.0					8																	100513997		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100513997C>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3953C>G	8.37:g.100513997C>G	ENSP00000351346:p.Thr1318Ser					VPS13B_uc003yiw.2_Missense_Mutation_p.T1318S|VPS13B_uc003yiu.1_Missense_Mutation_p.T1318S|VPS13B_uc003yix.1_Missense_Mutation_p.T788S	p.T1318S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		26	4064	+	Breast(36;3.73e-07)		1318					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.3953C>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	3.643	-0.073163	0.07184	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.67171	-0.25;-0.24;0.05	5.22	4.34	0.51931	.	0.420097	0.24801	N	0.035492	T	0.26085	0.0636	N	0.00210	-1.845	0.21950	N	0.999455	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.0;0.001	T	0.20874	-1.0262	10	0.02654	T	1	.	13.9285	0.63978	0.0:0.9263:0.0:0.0737	.	1317;1318;1318;1318	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	S	1318	ENSP00000349685:T1318S;ENSP00000351346:T1318S;ENSP00000379318:T1318S	ENSP00000349685:T1318S	T	+	2	0	VPS13B	100583173	0.997000	0.39634	0.999000	0.59377	0.934000	0.57294	3.738000	0.55067	1.332000	0.45431	0.557000	0.71058	ACC		0.423	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		10	125	0	0	0	0	10	125				
PKHD1L1	93035	broad.mit.edu	37	8	110509169	110509169	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:110509169A>T	ENST00000378402.5	+	64	10453	c.10349A>T	c.(10348-10350)aAg>aTg	p.K3450M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3450					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTGTGGAAAAGTGGTTTGAC	0.373										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(10348-10350)AAG>ATG		fibrocystin L precursor							151.0	143.0	146.0					8																	110509169		1817	4078	5895	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110509169A>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10349A>T	8.37:g.110509169A>T	ENSP00000367655:p.Lys3450Met	HNSCC(38;0.096)					p.K3450M	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		64	10453	+			3450			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.10349A>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.425882	0.62733	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	T;T	0.80393	-1.37;-1.37	5.64	3.24	0.37175	Pectin lyase fold/virulence factor (1);	0.410610	0.25467	N	0.030474	T	0.73156	0.3551	L	0.44542	1.39	0.23991	N	0.996249	B	0.19445	0.036	B	0.27076	0.076	T	0.63699	-0.6578	10	0.52906	T	0.07	.	8.6933	0.34280	0.8419:0.0:0.1581:0.0	.	3450	Q86WI1	PKHL1_HUMAN	M	3450;378	ENSP00000367655:K3450M;ENSP00000437376:K378M	ENSP00000367655:K3450M	K	+	2	0	PKHD1L1	110578345	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	1.383000	0.34385	0.413000	0.25759	0.528000	0.53228	AAG		0.373	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		22	106	0	0	0	0	22	106				
FAM83A	84985	broad.mit.edu	37	8	124219421	124219421	+	Silent	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:124219421G>C	ENST00000518448.1	+	5	2812	c.798G>C	c.(796-798)gtG>gtC	p.V266V	FAM83A_ENST00000536633.1_Silent_p.V266V|FAM83A_ENST00000522648.1_Silent_p.V210V|FAM83A_ENST00000276699.6_Silent_p.V266V|FAM83A_ENST00000318462.6_Silent_p.V266V|FAM83A_ENST00000546351.1_Silent_p.V210V			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	266										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCGGACACGTGCACCGGAACA	0.622																																						uc003ypv.2		NA																	0				ovary(3)|skin(1)	4						c.(796-798)GTG>GTC		hypothetical protein LOC84985 isoform a							29.0	24.0	25.0					8																	124219421		2203	4300	6503	SO:0001819	synonymous_variant	84985							g.chr8:124219421G>C	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.798G>C	8.37:g.124219421G>C						FAM83A_uc003ypw.2_Silent_p.V266V|FAM83A_uc003ypy.2_Silent_p.V210V|FAM83A_uc003ypx.2_Silent_p.V266V|FAM83A_uc003ypz.2_Silent_p.V266V	p.V266V	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		5	2812	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		266					Q71HL2|Q8N7I1|Q96I47	Silent	SNP	ENST00000518448.1	37	c.798G>C	CCDS6340.1																																																																																				0.622	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		7	9	0	0	0	0	7	9				
KIAA0196	9897	broad.mit.edu	37	8	126091066	126091066	+	Missense_Mutation	SNP	C	C	T	rs565980279		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:126091066C>T	ENST00000318410.7	-	6	974	c.625G>A	c.(625-627)Gag>Aag	p.E209K	KIAA0196_ENST00000517845.1_Missense_Mutation_p.E61K	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	209					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAATAGCTCTCGGGATAGTTG	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		15148	0.0		0.001	False		,,,				2504	0.0					uc003yrt.2		NA																	0				ovary(2)	2						c.(625-627)GAG>AAG		strumpellin							192.0	160.0	171.0					8																	126091066		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126091066C>T		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.625G>A	8.37:g.126091066C>T	ENSP00000318016:p.Glu209Lys					KIAA0196_uc011lir.1_Missense_Mutation_p.E61K	p.E209K	NM_014846	NP_055661	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		6	954	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		209					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.625G>A	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421212	0.96111	.	.	ENSG00000164961	ENST00000318410;ENST00000517845;ENST00000523297	D;D;D	0.86956	-2.19;-2.19;-2.19	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.94315	0.8173	M	0.86502	2.82	0.80722	D	1	D	0.67145	0.996	D	0.71656	0.974	D	0.95065	0.8199	10	0.87932	D	0	-20.0126	18.9289	0.92556	0.0:1.0:0.0:0.0	.	209	Q12768	STRUM_HUMAN	K	209;61;61	ENSP00000318016:E209K;ENSP00000429676:E61K;ENSP00000427946:E61K	ENSP00000318016:E209K	E	-	1	0	KIAA0196	126160248	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.687000	0.84139	2.554000	0.86153	0.591000	0.81541	GAG		0.423	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		17	53	0	0	0	0	17	53				
SPATC1	375686	broad.mit.edu	37	8	145101649	145101649	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:145101649C>A	ENST00000377470.3	+	5	1670	c.1568C>A	c.(1567-1569)gCg>gAg	p.A523E	CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA|SPATC1_ENST00000447830.2_3'UTR	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	523						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGCACCCTGCGCTGACCGAG	0.642																																						uc011lkw.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1567-1569)GCG>GAG		spermatogenesis and centriole associated 1							62.0	58.0	59.0					8																	145101649		2203	4300	6503	SO:0001583	missense	375686							g.chr8:145101649C>A	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.1568C>A	8.37:g.145101649C>A	ENSP00000366690:p.Ala523Glu					SPATC1_uc011lkx.1_3'UTR	p.A523E	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	1670	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		523					B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	c.1568C>A	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450530	0.43531	.	.	ENSG00000186583	ENST00000377470	T	0.51325	0.71	5.07	4.14	0.48551	.	0.139441	0.47093	D	0.000248	T	0.60431	0.2268	M	0.72894	2.215	0.26546	N	0.973997	D	0.65815	0.995	P	0.57679	0.825	T	0.56498	-0.7969	10	0.62326	D	0.03	-29.9904	12.3128	0.54938	0.0:0.8131:0.1869:0.0	.	523	Q76KD6	SPERI_HUMAN	E	523	ENSP00000366690:A523E	ENSP00000366690:A523E	A	+	2	0	SPATC1	145173637	0.000000	0.05858	0.300000	0.25030	0.094000	0.18550	0.188000	0.17018	2.359000	0.80004	0.655000	0.94253	GCG		0.642	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		18	49	1	0	3.53e-06	4.2e-06	18	49				
SPATA31A6	389730	broad.mit.edu	37	9	43627258	43627258	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:43627258G>T	ENST00000332857.6	-	4	1457	c.1429C>A	c.(1429-1431)Ccc>Acc	p.P477T	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	477					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAAATAAAGGGTTGGCGGTGG	0.522																																						uc011lrb.1		NA																	0					0						c.(1429-1431)CCC>ACC		hypothetical protein LOC389730							100.0	114.0	110.0					9																	43627258		617	1533	2150	SO:0001583	missense	389730					integral to membrane		g.chr9:43627258G>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1429C>A	9.37:g.43627258G>T	ENSP00000329825:p.Pro477Thr						p.P477T	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	1458	-			477						Missense_Mutation	SNP	ENST00000332857.6	37	c.1429C>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.388364	0.25118	.	.	ENSG00000185775	ENST00000332857	T	0.08458	3.09	2.13	0.108	0.14548	.	0.829709	0.10408	N	0.678356	T	0.20861	0.0502	M	0.73598	2.24	0.09310	N	1	D	0.71674	0.998	D	0.72982	0.979	T	0.13361	-1.0512	10	0.45353	T	0.12	-0.1934	2.5415	0.04727	0.1763:0.0:0.5367:0.287	.	477	Q5VVP1	F75A6_HUMAN	T	477	ENSP00000329825:P477T	ENSP00000329825:P477T	P	-	1	0	FAM75A6	43567254	0.000000	0.05858	0.003000	0.11579	0.039000	0.13416	-0.146000	0.10250	0.031000	0.15407	0.184000	0.17185	CCC		0.522	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		9	534	1	0	0.00448238	0.00492025	9	534				
CORO2A	7464	broad.mit.edu	37	9	100895440	100895440	+	Silent	SNP	A	A	G	rs143485689		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:100895440A>G	ENST00000343933.5	-	5	785	c.528T>C	c.(526-528)atT>atC	p.I176I	CORO2A_ENST00000375077.4_Silent_p.I176I	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	176					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGTGACAGCTAATCGTACTCA	0.542																																						uc004ayl.2		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(526-528)ATT>ATC		coronin, actin binding protein, 2A		A	,	1,4405	2.1+/-5.4	0,1,2202	288.0	214.0	239.0		528,528	1.3	0.0	9	dbSNP_134	239	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CORO2A	NM_003389.3,NM_052820.3	,	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	,	176/526,176/526	100895440	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100895440A>G	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.528T>C	9.37:g.100895440A>G						CORO2A_uc004aym.2_Silent_p.I176I	p.I176I	NM_003389	NP_003380	Q92828	COR2A_HUMAN			5	794	-		Acute lymphoblastic leukemia(62;0.0559)	176					Q5TBR5|Q92829|Q9BWS5	Silent	SNP	ENST00000343933.5	37	c.528T>C	CCDS6735.1																																																																																				0.542	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		5	102	0	0	0	0	5	102				
OR13D1	286365	broad.mit.edu	37	9	107457531	107457531	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:107457531T>A	ENST00000318763.5	+	1	872	c.829T>A	c.(829-831)Tcg>Acg	p.S277T		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	277			S -> L (in dbSNP:rs10761073). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TTCAGCGCACTCGATTGTGGT	0.388																																						uc011lvs.1		NA																	0				ovary(1)|skin(1)	2						c.(829-831)TCG>ACG		olfactory receptor, family 13, subfamily D,							175.0	170.0	171.0					9																	107457531		2203	4300	6503	SO:0001583	missense	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107457531T>A		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.829T>A	9.37:g.107457531T>A	ENSP00000317357:p.Ser277Thr						p.S277T	NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN			1	829	+			277			Helical; Name=6; (Potential).		B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	c.829T>A	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	T	3.718	-0.058093	0.07317	.	.	ENSG00000179055	ENST00000318763	T	0.36878	1.23	3.87	1.96	0.26148	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35291	N	0.003311	T	0.17577	0.0422	N	0.08118	0	0.09310	N	1	B	0.23249	0.082	B	0.19946	0.027	T	0.18398	-1.0338	10	0.87932	D	0	.	7.7522	0.28904	0.0:0.7795:0.0:0.2205	.	277	Q8NGV5	O13D1_HUMAN	T	277	ENSP00000317357:S277T	ENSP00000317357:S277T	S	+	1	0	OR13D1	106497352	0.000000	0.05858	0.017000	0.16124	0.008000	0.06430	-0.320000	0.08028	0.277000	0.22141	-0.385000	0.06624	TCG		0.388	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			6	97	0	0	0	0	6	97				
LPAR1	1902	broad.mit.edu	37	9	113704008	113704008	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:113704008C>T	ENST00000374431.3	-	4	869	c.486G>A	c.(484-486)cgG>cgA	p.R162R	LPAR1_ENST00000358883.4_Silent_p.R162R|LPAR1_ENST00000541779.1_Silent_p.R163R|LPAR1_ENST00000538760.1_Silent_p.R163R|LPAR1_ENST00000374430.2_Silent_p.R162R	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	162					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CCACTACCCGCCGGTTGCTCA	0.512																																					NSCLC(115;661 2323 9836 34256)	uc004bfa.2		NA																	0				ovary(2)	2						c.(484-486)CGG>CGA		lysophosphatidic acid receptor 1							111.0	101.0	105.0					9																	113704008		2203	4300	6503	SO:0001819	synonymous_variant	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113704008C>T	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.486G>A	9.37:g.113704008C>T						LPAR1_uc011lwm.1_Silent_p.R163R|LPAR1_uc004bfb.2_Silent_p.R162R|LPAR1_uc004bfc.2_Silent_p.R162R|LPAR1_uc011lwn.1_Silent_p.R144R|LPAR1_uc011lwo.1_Silent_p.R163R|LPAR1_uc010mub.2_Silent_p.R162R	p.R162R	NM_057159	NP_476500	Q92633	LPAR1_HUMAN			4	741	-			162			Cytoplasmic (Potential).		B4DK36|O00656|O00722|P78351	Silent	SNP	ENST00000374431.3	37	c.486G>A	CCDS6777.1																																																																																				0.512	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		22	74	0	0	0	0	22	74				
ZMAT1	84460	broad.mit.edu	37	X	101139015	101139015	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chrX:101139015C>T	ENST00000372782.3	-	7	1431	c.1384G>A	c.(1384-1386)Gtg>Atg	p.V462M	ZMAT1_ENST00000540921.1_Missense_Mutation_p.V462M|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.V291M	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	462						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGGTTTTCCACTACTTGTGAA	0.413																																						uc004eim.2		NA																	0				ovary(1)	1						c.(871-873)GTG>ATG		zinc finger, matrin type 1 isoform 3							132.0	120.0	124.0					X																	101139015		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101139015C>T	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1384G>A	X.37:g.101139015C>T	ENSP00000361868:p.Val462Met					ZMAT1_uc011mrl.1_Missense_Mutation_p.V462M|ZMAT1_uc004ein.2_Missense_Mutation_p.V291M|ZMAT1_uc011mrm.1_Missense_Mutation_p.V291M	p.V291M	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN			2	4369	-			291					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.871G>A	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274407	0.23307	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.29142	2.01;2.01;1.58	4.37	-0.289	0.12851	.	1.095810	0.06998	N	0.822876	T	0.37945	0.1022	L	0.59436	1.845	0.09310	N	1	D	0.56521	0.976	P	0.55667	0.781	T	0.22382	-1.0218	10	0.59425	D	0.04	3.0836	0.9964	0.01468	0.1575:0.3641:0.1527:0.3257	.	462	Q5H9K5	ZMAT1_HUMAN	M	462;462;291	ENSP00000361868:V462M;ENSP00000437529:V462M;ENSP00000413044:V291M	ENSP00000361868:V462M	V	-	1	0	ZMAT1	101025671	0.000000	0.05858	0.000000	0.03702	0.244000	0.25665	-0.332000	0.07904	-0.212000	0.10109	0.600000	0.82982	GTG		0.413	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			31	34	0	0	0	0	31	34				
ACSL4	2182	broad.mit.edu	37	X	108902623	108902623	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chrX:108902623T>A	ENST00000469796.2	-	15	2334	c.1938A>T	c.(1936-1938)gaA>gaT	p.E646D	ACSL4_ENST00000348502.6_Missense_Mutation_p.E605D|ACSL4_ENST00000340800.2_Missense_Mutation_p.E646D			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	646					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	GTATTTCAGCTTCCATAGCAG	0.393																																					Pancreas(188;358 2127 38547 41466 45492)	uc004eoi.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1936-1938)GAA>GAT		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						163.0	148.0	153.0					X																	108902623		2203	4300	6503	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108902623T>A	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1938A>T	X.37:g.108902623T>A	ENSP00000419171:p.Glu646Asp					ACSL4_uc004eoj.2_Missense_Mutation_p.E605D|ACSL4_uc004eok.2_Missense_Mutation_p.E605D	p.E646D	NM_022977	NP_075266	O60488	ACSL4_HUMAN			16	2443	-			646			Cytoplasmic (Potential).		D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.1938A>T	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	T	17.65	3.440988	0.63067	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.08282	3.11;3.11;3.11	5.22	2.81	0.32909	.	0.049640	0.85682	D	0.000000	T	0.26774	0.0655	M	0.87827	2.91	0.49483	D	0.999795	D	0.59767	0.986	D	0.64506	0.926	T	0.00647	-1.1628	10	0.54805	T	0.06	-20.665	7.7858	0.29091	0.0:0.3264:0.0:0.6736	.	646	O60488	ACSL4_HUMAN	D	605;646;646	ENSP00000262835:E605D;ENSP00000419171:E646D;ENSP00000339787:E646D	ENSP00000339787:E646D	E	-	3	2	ACSL4	108789279	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.084000	0.30828	0.253000	0.21552	0.425000	0.28330	GAA		0.393	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		31	26	0	0	0	0	31	26				
SMARCA1	6594	broad.mit.edu	37	X	128640093	128640093	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chrX:128640093G>A	ENST00000371122.4	-	8	1191	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	SMARCA1_ENST00000371121.3_Silent_p.L354L|SMARCA1_ENST00000478420.1_5'Flank|SMARCA1_ENST00000371123.1_Silent_p.L354L	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	354	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ATAAAAAGTTGAGTAAGGCCC	0.373																																						uc004eun.3		NA																	0				ovary(3)|skin(1)	4						c.(1060-1062)CTC>CTT		SWI/SNF-related matrix-associated							193.0	183.0	186.0					X																	128640093		2203	4300	6503	SO:0001819	synonymous_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128640093G>A	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1062C>T	X.37:g.128640093G>A						SMARCA1_uc004eup.3_Silent_p.L354L|SMARCA1_uc011muk.1_Silent_p.L354L|SMARCA1_uc011mul.1_Silent_p.L354L	p.L354L	NM_003069	NP_003060	P28370	SMCA1_HUMAN			8	1175	-			354			Helicase ATP-binding.		Q5JV41|Q5JV42	Silent	SNP	ENST00000371122.4	37	c.1062C>T	CCDS14612.1																																																																																				0.373	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		35	33	0	0	0	0	35	33				
NLGN4Y	22829	broad.mit.edu	37	Y	16936196	16936196	+	3'UTR	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chrY:16936196G>T	ENST00000476359.1	+	0	1299							Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked						learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						GACTATCTTTGGCTCGGGGGC	0.567																																						uc004ftg.2		NA																	0					0						c.(754-756)GGC>TGC		neuroligin 4, Y-linked isoform 1																																				SO:0001624	3_prime_UTR_variant	22829				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrY:16936196G>T		CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"""neuroligin 4, Y linked"""			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000476359.1:c.*1296G>T	Y.37:g.16936196G>T						NLGN4Y_uc004fte.2_Missense_Mutation_p.G84C|NLGN4Y_uc011nas.1_Missense_Mutation_p.G272C|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Missense_Mutation_p.G252C	p.G252C	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN			4	1006	+			252			Extracellular (Potential).		F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Missense_Mutation	SNP	ENST00000476359.1	37	c.754G>T																																																																																					0.567	NLGN4Y-004	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000089064.2	NM_014893		5	56	1	0	3.6e-05	4.19e-05	5	56				
DYRK1B	9149	broad.mit.edu	37	19	40321138	40321140	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:40321138_40321140delCTT	ENST00000593685.1	-	4	715_717	c.247_249delAAG	c.(247-249)aagdel	p.K83del	DYRK1B_ENST00000597639.1_In_Frame_Del_p.K83del|DYRK1B_ENST00000430012.2_In_Frame_Del_p.K83del|DYRK1B_ENST00000348817.3_In_Frame_Del_p.K83del|DYRK1B_ENST00000601972.1_In_Frame_Del_p.K83del|DYRK1B_ENST00000323039.5_In_Frame_Del_p.K83del			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	83					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CCTTCTTCTCCTTCTTGTTGCTC	0.581																																						uc002omj.2		NA																	0				ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7						c.(247-249)AAGdel		dual-specificity tyrosine-(Y)-phosphorylation																																				SO:0001651	inframe_deletion	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40321138_40321140delCTT	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.247_249delAAG	19.37:g.40321141_40321143delCTT	ENSP00000469863:p.Lys83del					DYRK1B_uc002omi.2_In_Frame_Del_p.K83del|DYRK1B_uc002omk.2_In_Frame_Del_p.K83del|DYRK1B_uc002oml.2_In_Frame_Del_p.K83del	p.K83del	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		4	527_529	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		83			Bipartite nuclear localization signal (Potential).		O75258|O75788|O75789	In_Frame_Del	DEL	ENST00000593685.1	37	c.247_249delAAG	CCDS12543.1																																																																																				0.581	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		26	96	NA	NA	NA	NA	26	96	---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24498605	24498606	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:24498605_24498606insT	ENST00000355123.4	-	18	2500_2501	c.2057_2058insA	c.(2056-2058)aagfs	p.K686fs	ITSN2_ENST00000406921.3_Frame_Shift_Ins_p.K686fs|SCARNA21_ENST00000515996.1_RNA|ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.K659fs	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	686					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.K685N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCTAGTTTCTTTTTCTGCAT	0.327																																						uc002rfe.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(2056-2058)AAGfs		intersectin 2 isoform 1																																				SO:0001589	frameshift_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24498605_24498606insT	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2058dupA	2.37:g.24498610_24498610dupT	ENSP00000347244:p.Lys686fs					ITSN2_uc002rff.2_Frame_Shift_Ins_p.K659fs|ITSN2_uc002rfg.2_Frame_Shift_Ins_p.K686fs	p.K686fs	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			18	2315_2316	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		686			Potential.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Frame_Shift_Ins	INS	ENST00000355123.4	37	c.2057_2058insA	CCDS1710.2																																																																																				0.327	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		12	67	NA	NA	NA	NA	12	67	---	---	---	---
XBP1	7494	broad.mit.edu	37	22	29196498	29196499	+	In_Frame_Ins	INS	-	-	GCC	rs528996789	byFrequency	TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr22:29196498_29196499insGCC	ENST00000216037.6	-	1	86_87	c.14_15insGGC	c.(13-15)gca>gcGGCa	p.5_5A>AA	XBP1_ENST00000405219.3_5'Flank|CTA-292E10.6_ENST00000458080.1_RNA|CTA-292E10.6_ENST00000418292.1_RNA|CTA-292E10.6_ENST00000585003.1_RNA|CTA-292E10.6_ENST00000451486.1_RNA|XBP1_ENST00000403532.3_In_Frame_Ins_p.5_5A>AA|XBP1_ENST00000344347.5_In_Frame_Ins_p.5_5A>AA	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	5					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial cell maturation involved in salivary gland development (GO:0060691)|exocrine pancreas development (GO:0031017)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|serotonin secretion, neurotransmission (GO:0060096)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						TCGGCGCGGCTGCCACCACCAC	0.762																																						uc011akl.1		NA																	0				breast(1)	1						c.(13-15)GCA>GCGGCA		X-box binding protein 1 isoform XBP1(S)			,	24,1974		9,6,984					,	1.1	1.0			2	13,4915		3,7,2454	no	coding,coding	XBP1	NM_005080.3,NM_001079539.1	,	12,13,3438	A1A1,A1R,RR		0.2638,1.2012,0.5342	,	,		37,6889				SO:0001652	inframe_insertion	7494				immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:29196498_29196499insGCC	M31627	CCDS13847.1	22q12.1	2013-01-10			ENSG00000100219	ENSG00000100219		"""basic leucine zipper proteins"""	12801	protein-coding gene	gene with protein product		194355		XBP2		1718857, 2196176	Standard	NM_001079539		Approved		uc003aec.3	P17861	OTTHUMG00000151094	ENST00000216037.6:c.12_14dupGGC	22.37:g.29196499_29196501dupGCC	ENSP00000216037:p.Ala7dup					XBP1_uc003aed.2_5'Flank|XBP1_uc003aef.2_5'UTR	p.5_5A>AA	NM_001079539	NP_001073007	P17861	XBP1_HUMAN			1	62_63	-			5					Q8WYK6|Q969P1|Q96BD7	In_Frame_Ins	INS	ENST00000216037.6	37	c.14_15insGGC	CCDS13847.1																																																																																				0.762	XBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321274.1	NM_005080		3	3	NA	NA	NA	NA	3	3	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137893473	137893474	+	Frame_Shift_Ins	INS	-	-	GT	rs368434114		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:137893473_137893474insGT	ENST00000260803.4	-	1	317_318	c.164_165insAC	c.(163-165)ccgfs	p.P55fs	DBR1_ENST00000505015.2_5'UTR|DBR1_ENST00000463982.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	55					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GATACTTGGGCGGCACGGCCAT	0.693																																						uc003erv.2		NA																	0					0						c.(163-165)CCGfs		debranching enzyme homolog 1																																				SO:0001589	frameshift_variant	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137893473_137893474insGT	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.164_165insAC	3.37:g.137893473_137893474insGT	ENSP00000260803:p.Pro55fs					DBR1_uc003eru.2_Frame_Shift_Ins_p.P4fs	p.P55fs	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			1	300_301	-			55					Q96GH0|Q9NXQ6	Frame_Shift_Ins	INS	ENST00000260803.4	37	c.164_165insAC	CCDS33863.1																																																																																				0.693	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			9	18	NA	NA	NA	NA	9	18	---	---	---	---
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:52883129delT	ENST00000350082.5	-	7	1008	c.662delA	c.(661-663)aag>ag	p.K221fs	ICK_ENST00000356971.3_Splice_Site_p.K221fs	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502																																						uc003pbh.2		NA																	0				ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(661-663)AAGfs		intestinal cell kinase							184.0	185.0	184.0					6																	52883129		2203	4300	6503	SO:0001630	splice_region_variant	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52883129delT	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.663+1A>-	6.37:g.52883129delT						ICK_uc003pbi.2_Frame_Shift_Del_p.K221fs|ICK_uc003pbj.2_Frame_Shift_Del_p.K221fs	p.K221fs	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN			8	1152	-	Lung NSC(77;0.103)		221			Protein kinase.		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Frame_Shift_Del	DEL	ENST00000350082.5	37	c.662delA	CCDS4949.1																																																																																				0.502	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513	Frame_Shift_Del	8	476	NA	NA	NA	NA	8	476	---	---	---	---
ZNF782	158431	broad.mit.edu	37	9	99581247	99581247	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:99581247delA	ENST00000481138.1	-	6	1719	c.1058delT	c.(1057-1059)ttcfs	p.F353fs	ZNF782_ENST00000535338.1_Frame_Shift_Del_p.F221fs|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	353					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(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ATGTACACTGAAAGTTGACTG	0.408																																						uc004awp.1		NA																	0					0						c.(1057-1059)TTCfs		zinc finger protein 782							157.0	146.0	150.0					9																	99581247		2203	4300	6503	SO:0001589	frameshift_variant	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99581247delA	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1058delT	9.37:g.99581247delA	ENSP00000419397:p.Phe353fs					ZNF782_uc011lup.1_Frame_Shift_Del_p.F221fs	p.F353fs	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN			6	1339	-		Acute lymphoblastic leukemia(62;0.0527)	353			C2H2-type 3; degenerate.		B2RNR0	Frame_Shift_Del	DEL	ENST00000481138.1	37	c.1058delT	CCDS35075.1																																																																																				0.408	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		93	62	NA	NA	NA	NA	93	62	---	---	---	---
RALGPS1	9649	broad.mit.edu	37	9	129958852	129958852	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:129958852delC	ENST00000259351.5	+	13	1404	c.1137delC	c.(1135-1137)agcfs	p.S379fs	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	379					intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGTCCCGCAGCCCCCGAAGGG	0.562																																						uc004bqo.1		NA																	0				ovary(1)	1						c.(1135-1137)AGCfs		Ral GEF with PH domain and SH3 binding motif 1							128.0	123.0	125.0					9																	129958852		2203	4300	6503	SO:0001589	frameshift_variant	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129958852delC	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1137delC	9.37:g.129958852delC	ENSP00000259351:p.Ser379fs					RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron	p.S379fs	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN			13	1404	+			379					B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Frame_Shift_Del	DEL	ENST00000259351.5	37	c.1137delC	CCDS35143.1																																																																																				0.562	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		19	101	NA	NA	NA	NA	19	101	---	---	---	---
