#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
H6PD	9563	broad.mit.edu	37	1	9324741	9324741	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:9324741G>T	ENST00000377403.2	+	5	2491	c.2189G>T	c.(2188-2190)aGc>aTc	p.S730I	H6PD_ENST00000602477.1_Missense_Mutation_p.S741I	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	730	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CGCCGCATGAGCCTTAGCCTG	0.652																																						uc001apt.2		NaN																	0					0						c.(2188-2190)AGC>ATC		hexose-6-phosphate dehydrogenase precursor	NADH(DB00157)						35.0	32.0	33.0					1																	9324741		2203	4299	6502	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9324741G>T	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2189G>T	1.37:g.9324741G>T	ENSP00000366620:p.Ser730Ile						p.S730I	NM_004285	NP_004276	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	2462	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	730			6-phosphogluconolactonase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.2189G>T	CCDS101.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957928	0.73902	.	.	ENSG00000049239	ENST00000377403	T	0.57752	0.38	5.66	5.66	0.87406	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.037859	0.85682	D	0.000000	T	0.78874	0.4352	M	0.93550	3.43	0.58432	D	0.999999	D	0.61080	0.989	P	0.61658	0.892	D	0.84382	0.0550	10	0.87932	D	0	-38.7679	18.72	0.91689	0.0:0.0:1.0:0.0	.	730	O95479	G6PE_HUMAN	I	730	ENSP00000366620:S730I	ENSP00000366620:S730I	S	+	2	0	H6PD	9247328	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.186000	0.65082	2.674000	0.91012	0.561000	0.74099	AGC		0.652	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2		NM_004285		8	27	1	0	3.27435e-08	0.00245	3.62959e-08	8	27		
DDI2	84301	broad.mit.edu	37	1	15978267	15978267	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:15978267C>G	ENST00000480945.1	+	8	1231	c.1060C>G	c.(1060-1062)Cct>Gct	p.P354A		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	354							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)		CACCTTTCTTCCTGAGGGAGA	0.502																																						uc001awx.1		NaN																	0					0						c.(1060-1062)CCT>GCT		DNA-damage inducible protein 2							73.0	73.0	73.0					1																	15978267		2203	4300	6503	SO:0001583	missense	84301				proteolysis		aspartic-type endopeptidase activity	g.chr1:15978267C>G		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.1060C>G	1.37:g.15978267C>G	ENSP00000417748:p.Pro354Ala					DDI2_uc009voj.1_Missense_Mutation_p.P95A	p.P354A	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)	8	1156	+		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)	354					A8KAE1|Q7RTZ0|Q9BRT1	Missense_Mutation	SNP	ENST00000480945.1	37	c.1060C>G	CCDS30607.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162143	0.38217	.	.	ENSG00000197312	ENST00000480945	T	0.22945	1.93	5.41	5.41	0.78517	.	0.073213	0.56097	U	0.000031	T	0.23330	0.0564	L	0.36672	1.1	0.58432	D	0.999999	B	0.13145	0.007	B	0.10450	0.005	T	0.04781	-1.0927	10	0.18710	T	0.47	-8.3315	18.8189	0.92088	0.0:1.0:0.0:0.0	.	354	Q5TDH0	DDI2_HUMAN	A	354	ENSP00000417748:P354A	ENSP00000417748:P354A	P	+	1	0	DDI2	15850854	1.000000	0.71417	0.966000	0.40874	0.941000	0.58515	5.699000	0.68310	2.554000	0.86153	0.467000	0.42956	CCT		0.502	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1		NM_032341		9	50	0	0	0	0.010729	0	9	50		
GRHL3	57822	broad.mit.edu	37	1	24668758	24668758	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:24668758G>T	ENST00000350501.5	+	9	1328	c.1201G>T	c.(1201-1203)Gac>Tac	p.D401Y	GRHL3_ENST00000342072.4_Missense_Mutation_p.D308Y|GRHL3_ENST00000356046.2_Missense_Mutation_p.D355Y|GRHL3_ENST00000361548.4_Missense_Mutation_p.D401Y|GRHL3_ENST00000236255.4_Missense_Mutation_p.D406Y	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	401					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)		GATCTTCTGTGACAAGGTGGC	0.587																																						uc001biy.2		NaN																	0				ovary(1)	1						c.(1216-1218)GAC>TAC		sister-of-mammalian grainyhead protein isoform							72.0	68.0	70.0					1																	24668758		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24668758G>T	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.1201G>T	1.37:g.24668758G>T	ENSP00000288955:p.Asp401Tyr					GRHL3_uc001bix.2_Missense_Mutation_p.D401Y|GRHL3_uc001biz.2_Missense_Mutation_p.D308Y	p.D406Y	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)	9	1262	+		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)	401					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.1216G>T	CCDS252.2	.	.	.	.	.	.	.	.	.	.	G	32	5.109918	0.94292	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.54695	0.1874	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.91635	0.973;0.999;0.954	T	0.59408	-0.7460	10	0.87932	D	0	-47.3015	18.8713	0.92315	0.0:0.0:1.0:0.0	.	355;406;401	A2A297;Q8TE85-2;G3XAF0	.;.;.	Y	401;308;401;355;406	ENSP00000354943:D401Y;ENSP00000340543:D308Y;ENSP00000288955:D401Y;ENSP00000348333:D355Y;ENSP00000236255:D406Y	ENSP00000236255:D406Y	D	+	1	0	GRHL3	24541345	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.612000	0.98347	2.937000	0.99478	0.650000	0.86243	GAC		0.587	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2		NM_021180		41	30	1	0	2.43468e-25	0.01441	3.16105e-25	41	30		
EXTL1	2134	broad.mit.edu	37	1	26349272	26349272	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:26349272C>T	ENST00000374280.3	+	1	1002	c.135C>T	c.(133-135)ggC>ggT	p.G45G		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	45					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCCCAAGGCTGGCCCCGCT	0.652																																						uc001blf.2		NaN																	0				central_nervous_system(1)	1						c.(133-135)GGC>GGT		exostoses-like 1							34.0	39.0	37.0					1																	26349272		2203	4300	6503	SO:0001819	synonymous_variant	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349272C>T	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.135C>T	1.37:g.26349272C>T							p.G45G	NM_004455	NP_004446	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1002	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	45			Lumenal (Potential).		Q6GSC1	Silent	SNP	ENST00000374280.3	37	c.135C>T	CCDS271.1																																																																																				0.652	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1		NM_004455		7	9	0	0	0	0.004482	0	7	9		
UBXN11	91544	broad.mit.edu	37	1	26610895	26610895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:26610895G>A	ENST00000374222.1	-	12	1395	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	UBXN11_ENST00000374217.2_Nonsense_Mutation_p.Q278*|UBXN11_ENST00000357089.4_Nonsense_Mutation_p.Q278*|UBXN11_ENST00000374223.1_Nonsense_Mutation_p.Q68*|UBXN11_ENST00000374221.3_Nonsense_Mutation_p.Q311*|UBXN11_ENST00000314675.7_Nonsense_Mutation_p.Q191*			Q5T124	UBX11_HUMAN	UBX domain protein 11	311						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TGCATCAGCTGCCTGCCCACC	0.627																																						uc001blw.2		NaN																	0				ovary(1)	1						c.(931-933)CAG>TAG		socius isoform 2							39.0	45.0	43.0					1																	26610895		2105	4216	6321	SO:0001587	stop_gained	91544					cytoplasm|cytoskeleton		g.chr1:26610895G>A	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.931C>T	1.37:g.26610895G>A	ENSP00000363339:p.Gln311*					UBXN11_uc001blz.1_Nonsense_Mutation_p.Q278*|UBXN11_uc001blv.2_Nonsense_Mutation_p.Q273*|UBXN11_uc001bly.2_Nonsense_Mutation_p.Q191*|UBXN11_uc001blx.2_Nonsense_Mutation_p.Q69*|UBXN11_uc001bma.2_Nonsense_Mutation_p.Q278*|UBXN11_uc001bmb.1_Nonsense_Mutation_p.Q311*|UBXN11_uc010ofb.1_3'UTR|UBXN11_uc010ofc.1_3'UTR	p.Q311*	NM_183008	NP_892120	Q5T124	UBX11_HUMAN			12	1204	-			311					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Nonsense_Mutation	SNP	ENST00000374222.1	37	c.931C>T	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944957	0.92593	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	.	.	.	4.29	4.29	0.51040	.	1.171330	0.05999	N	0.647427	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-6.5189	12.9448	0.58367	0.0:0.0:1.0:0.0	.	.	.	.	X	191;68;278;311;311;278	.	ENSP00000324721:Q191X	Q	-	1	0	UBXN11	26483482	0.012000	0.17670	0.052000	0.19188	0.028000	0.11728	1.955000	0.40372	2.340000	0.79590	0.491000	0.48974	CAG		0.627	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1		NM_145345		14	33	0	0	0	0.00499	0	14	33		
GRIK3	2899	broad.mit.edu	37	1	37270762	37270762	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:37270762C>T	ENST00000373091.3	-	15	2407	c.2391G>A	c.(2389-2391)gaG>gaA	p.E797E	GRIK3_ENST00000373093.4_Silent_p.E797E	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	797					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GCCACCACTTCTCCTTCATGA	0.602																																						uc001caz.2		NaN																	0				ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(2389-2391)GAG>GAA		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						67.0	66.0	66.0					1																	37270762		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37270762C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2391G>A	1.37:g.37270762C>T						GRIK3_uc001cba.1_Silent_p.E797E	p.E797E	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			15	2526	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	797			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.2391G>A	CCDS416.1																																																																																				0.602	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1		NM_000831		20	62	0	0	0	0.014323	0	20	62		
MACF1	23499	broad.mit.edu	37	1	39802313	39802313	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:39802313C>A	ENST00000372915.3	+	36	10155	c.10068C>A	c.(10066-10068)ttC>ttA	p.F3356L	MACF1_ENST00000289893.4_Missense_Mutation_p.F1791L|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.F3388L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.F3351L|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3356					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)			CAGAGCCCTTCAGAGCAACTC	0.418																																						uc010oiu.1		NaN																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(5371-5373)TTC>TTA		microfilament and actin filament cross-linker							32.0	33.0	33.0					1																	39802313		2190	4265	6455	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.chr1:39802313C>A	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.10068C>A	1.37:g.39802313C>A	ENSP00000362006:p.Phe3356Leu					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.F1791L	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)		1	5504	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3356					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.5373C>A		.	.	.	.	.	.	.	.	.	.	C	4.522	0.096795	0.08681	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.60171	0.21;1.3	5.65	2.63	0.31362	.	1.156730	0.06214	N	0.685512	T	0.39545	0.1082	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27571	-1.0070	10	0.41790	T	0.15	.	7.0388	0.25008	0.0:0.5701:0.3402:0.0897	.	3356	Q9UPN3	MACF1_HUMAN	L	3356;1791	ENSP00000362006:F3356L;ENSP00000289893:F1791L	ENSP00000289893:F1791L	F	+	3	2	MACF1	39574900	0.044000	0.20184	0.690000	0.30148	0.090000	0.18270	0.144000	0.16135	0.674000	0.31244	0.557000	0.71058	TTC		0.418	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		12	10	1	0	9.31168e-06	0.001855	9.90156e-06	12	10		
PTPRF	5792	broad.mit.edu	37	1	44086245	44086245	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:44086245G>T	ENST00000359947.4	+	31	5699	c.5359G>T	c.(5359-5361)Gcc>Tcc	p.A1787S	PTPRF_ENST00000438120.1_Missense_Mutation_p.A1778S|PTPRF_ENST00000372414.3_Missense_Mutation_p.A1787S|PTPRF_ENST00000372413.3_Missense_Mutation_p.A1778S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.A1146S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1787	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGTCACGGATGCCCGGGTGAG	0.552																																						uc001cjr.2		NaN																	0				ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(5359-5361)GCC>TCC		protein tyrosine phosphatase, receptor type, F							192.0	157.0	169.0					1																	44086245		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44086245G>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5359G>T	1.37:g.44086245G>T	ENSP00000353030:p.Ala1787Ser					PTPRF_uc001cjs.2_Missense_Mutation_p.A1778S|PTPRF_uc001cju.2_Missense_Mutation_p.A1176S|PTPRF_uc009vwt.2_Missense_Mutation_p.A1347S|PTPRF_uc001cjv.2_Missense_Mutation_p.A1258S|PTPRF_uc001cjw.2_Missense_Mutation_p.A1013S	p.A1787S	NM_002840	NP_002831	P10586	PTPRF_HUMAN			31	5699	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1787			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.5359G>T	CCDS489.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.90|19.90|19.90	3.912178|3.912178|3.912178	0.72983|0.72983|0.72983	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000412568;ENST00000414879|ENST00000429895	D;D;D;D;D;D|.|.	0.83075|.|.	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68|.|.	5.21|5.21|5.21	5.21|5.21|5.21	0.72293|0.72293|0.72293	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.|.	0.000000|.|.	0.34156|.|.	N|.|.	0.004219|.|.	T|T|T	0.56247|0.56247|0.56247	0.1972|0.1972|0.1972	N|N|N	0.21617|0.21617|0.21617	0.685|0.685|0.685	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B;B;P;D|.|.	0.71674|.|.	0.013;0.094;0.05;0.947;0.998|.|.	B;B;B;D;D|.|.	0.87578|.|.	0.036;0.22;0.322;0.941;0.998|.|.	T|T|T	0.48958|0.48958|0.48958	-0.8988|-0.8988|-0.8988	10|5|5	0.56958|.|.	D|.|.	0.05|.|.	.|.|.	19.6545|19.6545|19.6545	0.95831|0.95831|0.95831	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	1432;1146;1364;1778;1787|.|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.|.	.;.;.;.;PTPRF_HUMAN|.|.	S|F|I	1787;1778;1787;1778;1146;859|1170;1211|1432	ENSP00000353030:A1787S;ENSP00000398822:A1778S;ENSP00000361491:A1787S;ENSP00000361490:A1778S;ENSP00000387885:A1146S;ENSP00000361484:A859S|.|.	ENSP00000353030:A1787S|.|.	A|C|M	+|+|+	1|2|3	0|0|0	PTPRF|PTPRF|PTPRF	43858832|43858832|43858832	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.971000|0.971000|0.971000	0.41717|0.41717|0.41717	0.956000|0.956000|0.956000	0.61745|0.61745|0.61745	6.687000|6.687000|6.687000	0.74552|0.74552|0.74552	2.816000|2.816000|2.816000	0.96949|0.96949|0.96949	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GCC|TGC|ATG		0.552	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1				113	126	1	0	3.07415e-52	0.01441	4.17588e-52	113	126		
PODN	127435	broad.mit.edu	37	1	53540317	53540317	+	Missense_Mutation	SNP	A	A	G	rs367579309	byFrequency	TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:53540317A>G	ENST00000312553.5	+	4	597	c.590A>G	c.(589-591)aAt>aGt	p.N197S	PODN_ENST00000395871.2_Intron|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000371500.3_Missense_Mutation_p.N178S	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	149					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACCAACCTCAATTACCTGTAC	0.562													A|||	2	0.000399361	0.0015	0.0	5008	,	,		15935	0.0		0.0	False		,,,				2504	0.0					uc001cuv.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(589-591)AAT>AGT		podocan		A	,SER/ASN,SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	161.0	159.0	160.0		,590,533,533	5.5	1.0	1		160	0,8600		0,0,4300	no	intron,missense,missense,missense	PODN	NM_001199082.1,NM_153703.4,NM_001199081.1,NM_001199080.1	,46,46,46	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	,benign,benign,benign	,197/662,178/643,178/643	53540317	1,13005	2203	4300	6503	SO:0001583	missense	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53540317A>G	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.590A>G	1.37:g.53540317A>G	ENSP00000308315:p.Asn197Ser					PODN_uc001cuw.2_Missense_Mutation_p.N178S|PODN_uc010onr.1_Missense_Mutation_p.N178S|PODN_uc010ons.1_Intron	p.N197S	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN			4	597	+			149			LRR 3.		B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.590A>G	CCDS573.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.301555	0.40694	2.27E-4	0.0	ENSG00000174348	ENST00000371500;ENST00000312553	T;T	0.55760	0.5;0.5	5.51	5.51	0.81932	.	0.151959	0.64402	D	0.000019	T	0.28863	0.0716	N	0.03608	-0.345	0.80722	D	1	B;B	0.29136	0.234;0.041	B;B	0.25506	0.061;0.032	T	0.19582	-1.0301	10	0.14656	T	0.56	.	15.6342	0.76937	1.0:0.0:0.0:0.0	.	178;197	Q7Z5L7-2;Q7Z5L7-3	.;.	S	178;197	ENSP00000360555:N178S;ENSP00000308315:N197S	ENSP00000308315:N197S	N	+	2	0	PODN	53312905	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.555000	0.60767	2.077000	0.62373	0.533000	0.62120	AAT		0.562	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1		NM_153703		50	192	0	0	0	0.01441	0	50	192		
USP24	23358	broad.mit.edu	37	1	55562240	55562240	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:55562240C>A	ENST00000294383.6	-	50	5991	c.5992G>T	c.(5992-5994)Gac>Tac	p.D1998Y	USP24_ENST00000407756.1_Missense_Mutation_p.D1838Y	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1998	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TCATTTAGGTCAAATTCTTCT	0.323																																						uc001cyg.3		NaN																	0				ovary(6)|kidney(6)|breast(1)	13						c.(5512-5514)GAC>TAC		ubiquitin specific protease 24							116.0	105.0	108.0					1																	55562240		1815	4074	5889	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55562240C>A	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.5992G>T	1.37:g.55562240C>A	ENSP00000294383:p.Asp1998Tyr						p.D1838Y	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			47	5512	-			1998					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.5512G>T	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578284	0.86645	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.32753	1.44;1.44	6.17	6.17	0.99709	.	0.135739	0.64402	D	0.000003	T	0.46852	0.1414	M	0.79475	2.455	0.80722	D	1	P	0.43938	0.822	P	0.44359	0.447	T	0.48502	-0.9030	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1838	B7WPF4	.	Y	1998;1838	ENSP00000294383:D1998Y;ENSP00000385700:D1838Y	ENSP00000294383:D1998Y	D	-	1	0	USP24	55334828	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.461000	0.80834	2.941000	0.99782	0.655000	0.94253	GAC		0.323	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2				28	11	1	0	1.36615e-20	0.013726	1.69865e-20	28	11		
PRKAA2	5563	broad.mit.edu	37	1	57169954	57169954	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:57169954C>A	ENST00000371244.4	+	7	1165	c.1099C>A	c.(1099-1101)Cca>Aca	p.P367T		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	367	AIS. {ECO:0000250}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	GAAACCTCATCCAGAAAGGAT	0.468																																						uc001cyk.3		NaN																	0				breast(4)|ovary(1)|stomach(1)	6						c.(1099-1101)CCA>ACA		AMP-activated protein kinase alpha 2 catalytic							80.0	76.0	78.0					1																	57169954		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57169954C>A	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1099C>A	1.37:g.57169954C>A	ENSP00000360290:p.Pro367Thr						p.P367T	NM_006252	NP_006243	P54646	AAPK2_HUMAN			7	1170	+			367					Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.1099C>A	CCDS605.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461289	0.63513	.	.	ENSG00000162409	ENST00000371244	T	0.72615	-0.67	5.92	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.85931	0.1452	10	0.66056	D	0.02	-4.8654	15.0522	0.71881	0.0:0.9322:0.0:0.0678	.	367	P54646	AAPK2_HUMAN	T	367	ENSP00000360290:P367T	ENSP00000360290:P367T	P	+	1	0	PRKAA2	56942542	1.000000	0.71417	0.997000	0.53966	0.588000	0.36517	7.487000	0.81328	1.509000	0.48786	0.655000	0.94253	CCA		0.468	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2		NM_006252		36	20	1	0	1.96642e-18	0.006999	2.39434e-18	36	20		
GPSM2	29899	broad.mit.edu	37	1	109439511	109439511	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:109439511G>T	ENST00000406462.2	+	4	855	c.82G>T	c.(82-84)Gcc>Tcc	p.A28S	GPSM2_ENST00000264126.3_Missense_Mutation_p.A28S|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	28					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CCTAGAGCTGGCCTTGGAAGG	0.418																																						uc010ovc.1		NaN																	0				central_nervous_system(1)	1						c.(82-84)GCC>TCC		LGN protein							202.0	203.0	203.0					1																	109439511		2203	4300	6503	SO:0001583	missense	29899				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding	g.chr1:109439511G>T	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.82G>T	1.37:g.109439511G>T	ENSP00000385510:p.Ala28Ser					AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Missense_Mutation_p.A28S|GPSM2_uc010ove.1_Missense_Mutation_p.A28S	p.A28S	NM_013296	NP_037428	P81274	GPSM2_HUMAN		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)	3	578	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	28			TPR 1.		Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	ENST00000406462.2	37	c.82G>T	CCDS792.2	.	.	.	.	.	.	.	.	.	.	G	36	5.708729	0.96821	.	.	ENSG00000121957	ENST00000406462;ENST00000435987;ENST00000264126;ENST00000435475;ENST00000446797	D;T;D	0.95588	-3.75;-0.94;-3.75	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.97136	0.9064	M	0.62088	1.915	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.97195	0.9860	10	0.62326	D	0.03	-24.6502	19.6345	0.95724	0.0:0.0:1.0:0.0	.	28	P81274	GPSM2_HUMAN	S	28	ENSP00000385510:A28S;ENSP00000408664:A28S;ENSP00000264126:A28S	ENSP00000264126:A28S	A	+	1	0	GPSM2	109241034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.641000	0.89580	0.655000	0.94253	GCC		0.418	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3		NM_013296		40	135	1	0	2.79147e-13	0.01441	3.27997e-13	40	135		
OR10T2	128360	broad.mit.edu	37	1	158369175	158369175	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:158369175G>A	ENST00000334438.1	-	1	81	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L28F(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					ATGACAAAAAGCAGCAGCTGG	0.488																																						uc010pih.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|central_nervous_system(1)	3						c.(82-84)CTT>TTT		olfactory receptor, family 10, subfamily T,							37.0	41.0	40.0					1																	158369175		2203	4300	6503	SO:0001583	missense	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158369175G>A	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.82C>T	1.37:g.158369175G>A	ENSP00000334115:p.Leu28Phe						p.L28F	NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN			1	82	-	all_hematologic(112;0.0378)		28			Helical; Name=1; (Potential).		Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	c.82C>T	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506459	0.26949	.	.	ENSG00000186306	ENST00000334438	T	0.17213	2.29	4.64	4.64	0.57946	.	0.000000	0.34223	U	0.004156	T	0.11495	0.0280	L	0.46885	1.475	0.09310	N	1	P	0.46621	0.881	P	0.44518	0.452	T	0.02411	-1.1163	10	0.54805	T	0.06	.	16.4258	0.83814	0.0:0.0:1.0:0.0	.	28	Q8NGX3	O10T2_HUMAN	F	28	ENSP00000334115:L28F	ENSP00000334115:L28F	L	-	1	0	OR10T2	156635799	0.645000	0.27286	0.144000	0.22314	0.903000	0.53119	1.543000	0.36147	2.390000	0.81377	0.585000	0.79938	CTT		0.488	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1		NM_001004475		6	27	0	0	0	0.00308	0	6	27		
ATP1A2	477	broad.mit.edu	37	1	160109741	160109741	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:160109741G>A	ENST00000361216.3	+	22	3090	c.3001G>A	c.(3001-3003)Gtc>Atc	p.V1001I	ATP1A2_ENST00000392233.3_Missense_Mutation_p.V990I	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1001					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|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)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTATGATGAGGTCCGAAAGCT	0.582																																						uc001fvc.2		NaN																	0				central_nervous_system(3)|ovary(2)|skin(2)	7						c.(3001-3003)GTC>ATC		Na+/K+ -ATPase alpha 2 subunit proprotein							146.0	130.0	136.0					1																	160109741		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160109741G>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.3001G>A	1.37:g.160109741G>A	ENSP00000354490:p.Val1001Ile					ATP1A2_uc001fvd.2_Missense_Mutation_p.V720I	p.V1001I	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		22	3133	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		1001			Helical; (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.3001G>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	7.531	0.658703	0.14645	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.95272	-3.66;-2.33	4.37	4.37	0.52481	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.065553	0.64402	D	0.000010	T	0.77896	0.4199	N	0.11845	0.185	0.40615	D	0.981713	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.73026	-0.4112	10	0.02654	T	1	.	14.8061	0.69956	0.0:0.0:1.0:0.0	.	901;1001	F5GXJ7;P50993	.;AT1A2_HUMAN	I	1001;990;704	ENSP00000354490:V1001I;ENSP00000376066:V990I	ENSP00000354490:V1001I	V	+	1	0	ATP1A2	158376365	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.216000	0.42871	2.420000	0.82092	0.655000	0.94253	GTC		0.582	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2		NM_000702		33	68	0	0	0	0.011902	0	33	68		
LMX1A	4009	broad.mit.edu	37	1	165175152	165175152	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:165175152G>A	ENST00000342310.3	-	8	1319	c.937C>T	c.(937-939)Cga>Tga	p.R313*	LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_Nonsense_Mutation_p.R313*|LMX1A_ENST00000367893.4_Nonsense_Mutation_p.R313*	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	313					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AGACCCTGTCGGAAGGGATCT	0.582																																						uc001gcy.1		NaN																	0				central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(937-939)CGA>TGA		LIM homeobox transcription factor 1, alpha							111.0	113.0	112.0					1																	165175152		2203	4300	6503	SO:0001587	stop_gained	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165175152G>A	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.937C>T	1.37:g.165175152G>A	ENSP00000340226:p.Arg313*					LMX1A_uc001gcz.1_Nonsense_Mutation_p.R313*|LMX1A_uc001gcw.1_Nonsense_Mutation_p.R31*|LMX1A_uc001gcx.1_Nonsense_Mutation_p.R64*	p.R313*	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN			7	1158	-	all_hematologic(923;0.248)		313					B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Nonsense_Mutation	SNP	ENST00000342310.3	37	c.937C>T	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	G	39	7.909189	0.98557	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	.	.	.	5.39	5.39	0.77823	.	0.058782	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	18.7591	0.91843	0.0:0.0:1.0:0.0	.	.	.	.	X	313	.	ENSP00000294816:R313X	R	-	1	2	LMX1A	163441776	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.218000	0.95166	2.528000	0.85240	0.591000	0.81541	CGA		0.582	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2		NM_177398		18	56	0	0	0	0.010504	0	18	56		
LRRC52	440699	broad.mit.edu	37	1	165532872	165532872	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:165532872C>T	ENST00000294818.1	+	2	1043	c.753C>T	c.(751-753)atC>atT	p.I251I	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	251					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TGCTGCTCATCGGCTTCTGCA	0.587																																						uc001gde.2		NaN																	0				ovary(1)	1						c.(751-753)ATC>ATT		leucine rich repeat containing 52 precursor							72.0	58.0	63.0					1																	165532872		2203	4300	6503	SO:0001819	synonymous_variant	440699					integral to membrane		g.chr1:165532872C>T	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.753C>T	1.37:g.165532872C>T						LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	p.I251I	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN			2	809	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		251			Helical; (Potential).		A2RUN7|Q5T9K5	Silent	SNP	ENST00000294818.1	37	c.753C>T	CCDS30930.1																																																																																				0.587	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1		NM_001005214		13	35	0	0	0	0.003163	0	13	35		
FMO3	2328	broad.mit.edu	37	1	171073019	171073019	+	Missense_Mutation	SNP	G	G	A	rs200985454		TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:171073019G>A	ENST00000367755.4	+	3	337	c.226G>A	c.(226-228)Gat>Aat	p.D76N	FMO3_ENST00000538429.1_Intron|FMO3_ENST00000542847.1_Missense_Mutation_p.D56N|FMO3_ENST00000392085.2_Missense_Mutation_p.D76N|MIR1295A_ENST00000408463.1_RNA	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	76					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CCCATTTCCCGATGACTTCCC	0.423																																						uc001ghi.2		NaN																	0				skin(1)	1						c.(226-228)GAT>AAT		flavin containing monooxygenase 3							141.0	131.0	134.0					1																	171073019		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171073019G>A	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.226G>A	1.37:g.171073019G>A	ENSP00000356729:p.Asp76Asn					FMO3_uc001ghh.2_Missense_Mutation_p.D76N|FMO3_uc010pmb.1_Missense_Mutation_p.D56N|FMO3_uc010pmc.1_Intron|MIR1295_hsa-mir-1295|MI0006357_5'Flank	p.D76N	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			3	337	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		76					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.226G>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332867	0.81801	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847	T;T;T	0.56275	0.47;0.47;0.47	4.53	4.53	0.55603	.	0.107977	0.64402	D	0.000006	T	0.64702	0.2622	M	0.76433	2.335	0.51767	D	0.999932	D;D	0.69078	0.997;0.996	P;D	0.64687	0.882;0.928	T	0.67608	-0.5627	10	0.48119	T	0.1	-12.3241	17.2467	0.87030	0.0:0.0:1.0:0.0	.	56;76	F5GZZ8;P31513	.;FMO3_HUMAN	N	76;76;56	ENSP00000356729:D76N;ENSP00000375935:D76N;ENSP00000444073:D56N	ENSP00000356729:D76N	D	+	1	0	FMO3	169339643	1.000000	0.71417	0.777000	0.31699	0.512000	0.34134	7.491000	0.81471	2.217000	0.71921	0.591000	0.81541	GAT		0.423	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1		NM_006894		31	20	0	0	0	0.012213	0	31	20		
FMO2	2327	broad.mit.edu	37	1	171162520	171162520	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:171162520C>T	ENST00000209929.7	+	3	337	c.179C>T	c.(178-180)aCc>aTc	p.T60I	FMO2_ENST00000441535.1_Missense_Mutation_p.T60I|FMO2_ENST00000529935.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	60					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTGTCGTTACCAACACCAGC	0.348																																						uc001ghk.1		NaN																	0				skin(1)	1						c.(178-180)ACC>ATC		flavin containing monooxygenase 2							115.0	114.0	114.0					1																	171162520		2203	4300	6503	SO:0001583	missense	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171162520C>T	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.179C>T	1.37:g.171162520C>T	ENSP00000209929:p.Thr60Ile					FMO2_uc010pmd.1_5'UTR	p.T60I	NM_001460	NP_001451	Q99518	FMO2_HUMAN			3	296	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		60					Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.179C>T	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	C	4.527	0.097850	0.08681	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.58210	0.35;0.35	5.44	2.5	0.30297	.	0.381500	0.31461	N	0.007619	T	0.20170	0.0485	L	0.35854	1.095	0.26659	N	0.97194	B	0.27192	0.171	B	0.37943	0.261	T	0.38908	-0.9639	10	0.05351	T	0.99	-9.2678	11.1333	0.48360	0.0:0.4353:0.4925:0.0722	.	60	Q99518	FMO2_HUMAN	I	60	ENSP00000209929:T60I;ENSP00000405905:T60I	ENSP00000209929:T60I	T	+	2	0	FMO2	169429144	0.931000	0.31567	0.999000	0.59377	0.960000	0.62799	0.770000	0.26618	0.644000	0.30656	0.655000	0.94253	ACC		0.348	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2		NM_001460		75	62	0	0	0	0.01441	0	75	62		
KDM5B	10765	broad.mit.edu	37	1	202709880	202709880	+	Silent	SNP	T	T	C	rs376018304		TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:202709880T>C	ENST00000367265.3	-	20	4170	c.3006A>G	c.(3004-3006)gcA>gcG	p.A1002A	KDM5B_ENST00000367264.2_Silent_p.A1038A	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1002					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TGGGCAGATATGCAGGGATCT	0.443																																						uc001gyf.2		NaN																	0				ovary(2)|breast(2)|urinary_tract(1)	5						c.(3004-3006)GCA>GCG		jumonji, AT rich interactive domain 1B		T		0,4406		0,0,2203	80.0	81.0	81.0		3006	-11.5	0.0	1		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KDM5B	NM_006618.3		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		1002/1545	202709880	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202709880T>C	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3006A>G	1.37:g.202709880T>C						KDM5B_uc009xag.2_Silent_p.A1038A|KDM5B_uc001gyg.1_Silent_p.A844A	p.A1002A	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			20	3122	-			1002					O95811|Q15752|Q9Y3Q5	Silent	SNP	ENST00000367265.3	37	c.3006A>G	CCDS30974.1																																																																																				0.443	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2		NM_006618		11	47	0	0	0	0.001855	0	11	47		
MDM4	4194	broad.mit.edu	37	1	204511994	204511994	+	Silent	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:204511994G>A	ENST00000367182.3	+	8	756	c.594G>A	c.(592-594)ctG>ctA	p.L198L	MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000454264.2_Silent_p.L198L|MDM4_ENST00000367183.3_Intron	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	MDM4, p53 regulator	198					cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TAGCTGGCCTGCCTTGGTGGT	0.388			A		"""GBM, bladder, retinoblastoma"""																																	uc001hba.2		NaN		Dom	yes		1	1q32	4194	A	Mdm4 p53 binding protein homolog			M			GBM|bladder|retinoblastoma		0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(592-594)CTG>CTA		mouse double minute 4 homolog							118.0	116.0	117.0					1																	204511994		2203	4300	6503	SO:0001819	synonymous_variant	4194				apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding	g.chr1:204511994G>A	AF007111	CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1	1q32	2014-03-03	2014-03-03		ENSG00000198625	ENSG00000198625			6974	protein-coding gene	gene with protein product		602704	"""mouse double minute 4, human homolog of; p53-binding protein"", ""Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)"", ""Mdm4 p53 binding protein homolog (mouse)"""			9226370, 14660608	Standard	NM_002393		Approved	MDMX, HDMX	uc001hba.3	O15151	OTTHUMG00000035877	ENST00000367182.3:c.594G>A	1.37:g.204511994G>A						MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_RNA|MDM4_uc010pqx.1_Silent_p.L71L|MDM4_uc001hay.1_Silent_p.L198L|MDM4_uc001hbb.2_Silent_p.L71L|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_RNA|MDM4_uc009xbe.1_RNA	p.L198L	NM_002393	NP_002384	O15151	MDM4_HUMAN	GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)		8	756	+	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		198					Q2M2Y2|Q32SL2|Q6GS18|Q8IV83	Silent	SNP	ENST00000367182.3	37	c.594G>A	CCDS1447.1																																																																																				0.388	MDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087415.2		NM_002393		19	39	0	0	0	0.00278	0	19	39		
SRGAP2	23380	broad.mit.edu	37	1	206626557	206626557	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:206626557A>G	ENST00000414007.1	+	16	1771	c.1771A>G	c.(1771-1773)Atc>Gtc	p.I591V	SRGAP2_ENST00000419187.2_Missense_Mutation_p.I36V|SRGAP2_ENST00000471256.1_3'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	731	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ATGTGAGCCCATCGAGGCCAT	0.522																																						uc001hdy.2		NaN																	0					0						c.(1930-1932)ATC>GTC		SLIT-ROBO Rho GTPase activating protein 2							43.0	38.0	40.0					1																	206626557		2013	4202	6215	SO:0001583	missense	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206626557A>G	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.1771A>G	1.37:g.206626557A>G	ENSP00000390898:p.Ile591Val					SRGAP2_uc010prt.1_Missense_Mutation_p.I567V|SRGAP2_uc001hdx.2_Missense_Mutation_p.I644V|SRGAP2_uc010pru.1_Missense_Mutation_p.I567V|SRGAP2_uc010prv.1_Missense_Mutation_p.I568V	p.I644V	NM_015326	NP_056141	O75044	FNBP2_HUMAN			17	2263	+	Breast(84;0.137)		731			SH3.			Missense_Mutation	SNP	ENST00000414007.1	37	c.1930A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.19|15.19	2.759511|2.759511	0.49468|0.49468	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000295713|ENST00000414359;ENST00000414007;ENST00000419187;ENST00000439126	.|T;T;T	.|0.40756	.|1.02;1.1;1.02	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Src homology-3 domain (3);	.|0.119504	.|0.53938	.|D	.|0.000048	T|T	0.30885|0.30885	0.0779|0.0779	.|.	.|.	.|.	.|.	.|.	.|.	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.06405	.|0.0;0.002	T|T	0.31696|0.31696	-0.9934|-0.9934	3|8	.|0.19147	.|T	.|0.46	.|.	15.0081|15.0081	0.71527|0.71527	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|578;731	.|B4DDU0;O75044	.|.;FNBP2_HUMAN	R|V	644|644;591;36;345	.|ENSP00000390898:I591V;ENSP00000397990:I36V;ENSP00000403036:I345V	.|ENSP00000390898:I591V	H|I	+|+	2|1	0|0	SRGAP2|SRGAP2	204693180|204693180	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	5.069000|5.069000	0.64370|0.64370	2.129000|2.129000	0.65627|0.65627	0.533000|0.533000	0.62120|0.62120	CAT|ATC		0.522	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding			NM_015326		2	2	0	0	0	0.004672	0	2	2		
MYO3A	53904	broad.mit.edu	37	10	26463335	26463335	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr10:26463335C>T	ENST00000265944.5	+	30	4308	c.4142C>T	c.(4141-4143)aCa>aTa	p.T1381I	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1381					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGGATTGTCACAACACCAACA	0.398																																						uc001isn.2		NaN																	0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(4141-4143)ACA>ATA		myosin IIIA							148.0	136.0	140.0					10																	26463335		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26463335C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4142C>T	10.37:g.26463335C>T	ENSP00000265944:p.Thr1381Ile					MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	p.T1381I	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			30	4502	+			1381					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4142C>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	8.966	0.971835	0.18736	.	.	ENSG00000095777	ENST00000265944	T	0.76968	-1.06	5.31	3.45	0.39498	.	1.907940	0.01931	N	0.041227	T	0.60235	0.2253	N	0.08118	0	0.09310	N	1	B	0.22346	0.068	B	0.11329	0.006	T	0.52668	-0.8545	10	0.34782	T	0.22	.	4.5437	0.12071	0.152:0.5547:0.0:0.2933	.	1381	Q8NEV4	MYO3A_HUMAN	I	1381	ENSP00000265944:T1381I	ENSP00000265944:T1381I	T	+	2	0	MYO3A	26503341	0.000000	0.05858	0.002000	0.10522	0.065000	0.16274	0.056000	0.14256	1.233000	0.43693	0.563000	0.77884	ACA		0.398	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1		NM_017433		44	66	0	0	0	0.01441	0	44	66		
ZNF25	219749	broad.mit.edu	37	10	38241661	38241661	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr10:38241661C>T	ENST00000302609.7	-	6	977	c.765G>A	c.(763-765)gaG>gaA	p.E255E	ZNF25_ENST00000374633.1_5'UTR|AL117337.1_ENST00000582458.1_RNA	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				CATAGGGTTTCTCCCCTGTGT	0.443																																						uc001ize.1		NaN																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(763-765)GAG>GAA		zinc finger protein 25							122.0	110.0	114.0					10																	38241661		2203	4300	6503	SO:0001819	synonymous_variant	219749				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38241661C>T	AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.765G>A	10.37:g.38241661C>T						ZNF25_uc001izf.1_Silent_p.E219E	p.E255E	NM_145011	NP_659448	P17030	ZNF25_HUMAN			6	870	-		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)	255					A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Silent	SNP	ENST00000302609.7	37	c.765G>A	CCDS7195.1																																																																																				0.443	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1		NM_145011, NM_006966		36	96	0	0	0	0.006999	0	36	96		
LRIT1	26103	broad.mit.edu	37	10	85997383	85997383	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr10:85997383G>A	ENST00000372105.3	-	2	203	c.182C>T	c.(181-183)aCc>aTc	p.T61I		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	61						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CAGTCTGGAGGTGTCCGGGGG	0.662																																						uc001kcz.1		NaN																	0					0						c.(181-183)ACC>ATC		retina specific protein PAL							31.0	37.0	35.0					10																	85997383		2156	4198	6354	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:85997383G>A	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.182C>T	10.37:g.85997383G>A	ENSP00000361177:p.Thr61Ile						p.T61I	NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN			2	204	-			61			LRR 1.|Lumenal (Potential).		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.182C>T	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812798	0.70912	.	.	ENSG00000148602	ENST00000372105	T	0.50001	0.76	5.35	5.35	0.76521	Leucine-rich repeat-containing N-terminal (1);	0.242826	0.42053	D	0.000780	T	0.51278	0.1665	M	0.81497	2.545	0.80722	D	1	B	0.32338	0.365	B	0.27608	0.081	T	0.56980	-0.7889	10	0.54805	T	0.06	.	15.9705	0.80013	0.0:0.0:1.0:0.0	.	61	Q9P2V4	LRIT1_HUMAN	I	61	ENSP00000361177:T61I	ENSP00000361177:T61I	T	-	2	0	LRIT1	85987363	1.000000	0.71417	0.949000	0.38748	0.935000	0.57460	7.609000	0.82925	2.500000	0.84329	0.655000	0.94253	ACC		0.662	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1		NM_015613		44	9	0	0	0	0.01441	0	44	9		
GRK5	2869	broad.mit.edu	37	10	121189924	121189924	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr10:121189924G>A	ENST00000392870.2	+	7	900	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	GRK5_ENST00000369108.3_Missense_Mutation_p.V86M	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GCAGTATCGAGTGCTAGGAAA	0.458																																						uc001led.2		NaN																	0				lung(2)|stomach(1)	3						c.(571-573)GTG>ATG		G protein-coupled receptor kinase 5							146.0	145.0	145.0					10																	121189924		2203	4300	6503	SO:0001583	missense	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121189924G>A	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.571G>A	10.37:g.121189924G>A	ENSP00000376609:p.Val191Met					GRK5_uc009xzh.2_Missense_Mutation_p.V86M|GRK5_uc010qta.1_Missense_Mutation_p.V86M	p.V191M	NM_005308	NP_005299	P34947	GRK5_HUMAN		all cancers(201;0.0227)	7	804	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	191			Protein kinase.		D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	c.571G>A	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847702	0.91277	.	.	ENSG00000198873	ENST00000392870;ENST00000457057;ENST00000369108	T;T	0.26660	1.72;1.72	5.24	5.24	0.73138	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	0.52532	D	0.000063	T	0.48150	0.1484	L	0.52206	1.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.47497	-0.9113	10	0.87932	D	0	-1.8428	18.8439	0.92196	0.0:0.0:1.0:0.0	.	191;191	B2R7K0;P34947	.;GRK5_HUMAN	M	191;86;86	ENSP00000376609:V191M;ENSP00000358104:V86M	ENSP00000358104:V86M	V	+	1	0	GRK5	121179914	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.654000	0.74387	2.443000	0.82685	0.563000	0.77884	GTG		0.458	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2		NM_005308		46	54	0	0	0	0.01441	0	46	54		
C10orf88	80007	broad.mit.edu	37	10	124692098	124692098	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr10:124692098C>A	ENST00000481909.1	-	6	1407	c.1183G>T	c.(1183-1185)Gat>Tat	p.D395Y	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	395										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TCAATGTAATCCATAAGTTTC	0.353																																						uc001lgw.2		NaN																	0					0						c.(1183-1185)GAT>TAT		hypothetical protein LOC80007							101.0	98.0	99.0					10																	124692098		2203	4300	6503	SO:0001583	missense	80007							g.chr10:124692098C>A	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.1183G>T	10.37:g.124692098C>A	ENSP00000419126:p.Asp395Tyr					C10orf88_uc001lgx.2_Missense_Mutation_p.D297Y	p.D395Y	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)	6	1408	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	395					Q0P6C6|Q8N597	Missense_Mutation	SNP	ENST00000481909.1	37	c.1183G>T	CCDS7632.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123965	0.56613	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.99	3.11	0.35812	.	0.075479	0.52532	U	0.000077	T	0.76040	0.3932	M	0.77616	2.38	0.41134	D	0.9859	D	0.89917	1.0	D	0.74348	0.983	T	0.76515	-0.2931	9	0.87932	D	0	.	9.8474	0.41034	0.0:0.8375:0.0:0.1625	.	395	Q9H8K7	CJ088_HUMAN	Y	395	.	ENSP00000419126:D395Y	D	-	1	0	C10orf88	124682088	0.983000	0.35010	0.894000	0.35097	0.882000	0.50991	2.416000	0.44644	0.482000	0.27582	0.655000	0.94253	GAT		0.353	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1		NM_024942		6	24	1	0	2.0095e-06	0.001984	2.18626e-06	6	24		
SLC25A22	79751	broad.mit.edu	37	11	800221	800221	+	5'Flank	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:800221C>T	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Silent_p.V728V|PIDD_ENST00000411829.2_Silent_p.V711V	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCGCACAGGCACCGCGCCAC	0.687																																					Colon(93;848 1468 3270 23355 49636)	uc001lro.1		NaN																	0					0						c.(2182-2184)GTG>GTA		leucine rich repeat and death domain containing							22.0	25.0	24.0					11																	800221		2203	4295	6498	SO:0001631	upstream_gene_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:800221C>T	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.800221C>T	Exception_encountered					SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Silent_p.V711V|LRDD_uc001lrl.1_Silent_p.V571V|LRDD_uc001lrm.1_Silent_p.V415V|LRDD_uc001lrn.1_Silent_p.V571V|LRDD_uc001lrp.1_Silent_p.V373V	p.V728V	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	2326	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	728					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Silent	SNP	ENST00000531214.1	37	c.2184G>A	CCDS7715.1																																																																																				0.687	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384124.1				8	18	0	0	0	0.008291	0	8	18		
ABCC8	6833	broad.mit.edu	37	11	17414623	17414623	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:17414623C>A	ENST00000389817.3	-	39	4729	c.4661G>T	c.(4660-4662)gGt>gTt	p.G1554V	ABCC8_ENST00000302539.4_Missense_Mutation_p.G1555V			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1554	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AAGGATGGCACCCCGCTTCAG	0.617																																						uc001mnc.2		NaN																	0				ovary(1)	1						c.(4660-4662)GGT>GTT		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						105.0	81.0	89.0					11																	17414623		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17414623C>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4661G>T	11.37:g.17414623C>A	ENSP00000374467:p.Gly1554Val						p.G1554V	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	39	4787	-			1554			Cytoplasmic (By similarity).|ABC transporter 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.4661G>T	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610602	0.87258	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.98296	-4.85;-4.85	5.2	5.2	0.72013	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99429	0.9798	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98241	1.0488	10	0.87932	D	0	.	18.7391	0.91767	0.0:1.0:0.0:0.0	.	1554	Q09428	ABCC8_HUMAN	V	1554;1555	ENSP00000374467:G1554V;ENSP00000303960:G1555V	ENSP00000303960:G1555V	G	-	2	0	ABCC8	17371199	1.000000	0.71417	0.323000	0.25347	0.798000	0.45092	7.482000	0.81143	2.430000	0.82344	0.561000	0.74099	GGT		0.617	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1		NM_000352		9	25	1	0	7.48243e-07	0.006214	8.25526e-07	9	25		
NELL1	4745	broad.mit.edu	37	11	20940871	20940871	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:20940871G>C	ENST00000357134.5	+	7	902	c.750G>C	c.(748-750)atG>atC	p.M250I	NELL1_ENST00000532434.1_Missense_Mutation_p.M250I|NELL1_ENST00000325319.5_Missense_Mutation_p.M193I|NELL1_ENST00000298925.5_Missense_Mutation_p.M278I	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	250					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TGGCCAAGATGACTGCAAAAG	0.328																																						uc001mqe.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(748-750)ATG>ATC		nel-like 1 isoform 1 precursor							120.0	117.0	118.0					11																	20940871		2203	4299	6502	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20940871G>C	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.750G>C	11.37:g.20940871G>C	ENSP00000349654:p.Met250Ile					NELL1_uc001mqf.2_Missense_Mutation_p.M250I|NELL1_uc009yid.2_Missense_Mutation_p.M278I|NELL1_uc010rdo.1_Missense_Mutation_p.M193I|NELL1_uc010rdp.1_Missense_Mutation_p.M10I	p.M250I	NM_006157	NP_006148	Q92832	NELL1_HUMAN			7	903	+			250					B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.750G>C	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444942	0.63178	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.78481	-1.18;-1.14;-1.06;-1.04	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.83912	0.5357	L	0.44542	1.39	0.58432	D	0.999999	D;P;B;P	0.53745	0.962;0.936;0.34;0.936	D;P;B;P	0.66716	0.946;0.885;0.155;0.885	T	0.78578	-0.2150	10	0.22706	T	0.39	-24.7715	20.0128	0.97467	0.0:0.0:1.0:0.0	.	193;278;250;250	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	I	278;250;193;250	ENSP00000298925:M278I;ENSP00000349654:M250I;ENSP00000317837:M193I;ENSP00000437170:M250I	ENSP00000298925:M278I	M	+	3	0	NELL1	20897447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.199000	0.95003	2.827000	0.97445	0.650000	0.86243	ATG		0.328	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1		NM_006157		28	40	0	0	0	0.003755	0	28	40		
MAPK8IP1	9479	broad.mit.edu	37	11	45924441	45924441	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:45924441T>C	ENST00000241014.2	+	5	1293	c.1123T>C	c.(1123-1125)Tcc>Ccc	p.S375P	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.S365P	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	375	Interaction with MAP3K7.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CAGCGCCCTGTCCTATGACTC	0.672																																						uc001nbr.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(1123-1125)TCC>CCC		mitogen-activated protein kinase 8 interacting							27.0	23.0	24.0					11																	45924441		2203	4298	6501	SO:0001583	missense	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45924441T>C		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1123T>C	11.37:g.45924441T>C	ENSP00000241014:p.Ser375Pro						p.S375P	NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	5	1293	+			375					D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	c.1123T>C	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207840	0.79240	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.24350	1.86;1.86	4.69	4.69	0.59074	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	L	0.29908	0.895	0.53688	D	0.99997	D	0.61080	0.989	P	0.59221	0.854	T	0.06862	-1.0803	10	0.48119	T	0.1	-19.0643	14.3122	0.66424	0.0:0.0:0.0:1.0	.	375	Q9UQF2	JIP1_HUMAN	P	375;365	ENSP00000241014:S375P;ENSP00000378991:S365P	ENSP00000241014:S375P	S	+	1	0	MAPK8IP1	45881017	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.755000	0.55197	1.981000	0.57761	0.459000	0.35465	TCC		0.672	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1		NM_005456		5	3	0	0	0	0.001984	0	5	3		
OR4C15	81309	broad.mit.edu	37	11	55322269	55322269	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:55322269G>T	ENST00000314644.2	+	1	487	c.487G>T	c.(487-489)Gtg>Ttg	p.V163L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTTTGCTGGGGTGGAGGTGAT	0.473										HNSCC(20;0.049)																												uc010rig.1		NaN																	0				ovary(1)|skin(1)	2						c.(487-489)GTG>TTG		olfactory receptor, family 4, subfamily C,							136.0	121.0	126.0					11																	55322269		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322269G>T	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.487G>T	11.37:g.55322269G>T	ENSP00000324958:p.Val163Leu	HNSCC(20;0.049)					p.V163L	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	487	+			109			Helical; Name=3; (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.487G>T	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	G	9.001	0.980219	0.18812	.	.	ENSG00000181939	ENST00000314644	T	0.01092	5.35	5.12	2.14	0.27477	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00875	0.0029	N	0.13043	0.29	0.09310	N	1	B	0.27316	0.175	B	0.28784	0.094	T	0.49457	-0.8938	9	0.37606	T	0.19	.	4.4052	0.11406	0.1704:0.0:0.5187:0.3109	.	109	Q8NGM1	OR4CF_HUMAN	L	163	ENSP00000324958:V163L	ENSP00000324958:V163L	V	+	1	0	OR4C15	55078845	0.000000	0.05858	0.001000	0.08648	0.340000	0.28889	0.171000	0.16685	0.730000	0.32425	0.385000	0.25706	GTG		0.473	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1		NM_001001920		19	124	1	0	6.21321e-17	0.00278	7.48772e-17	19	124		
STX5	6811	broad.mit.edu	37	11	62592798	62592798	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:62592798G>C	ENST00000294179.3	-	7	707	c.554C>G	c.(553-555)tCt>tGt	p.S185C	STX5_ENST00000541317.1_Missense_Mutation_p.S89C|STX5_ENST00000377897.4_Missense_Mutation_p.S185C|STX5_ENST00000394690.1_Missense_Mutation_p.S131C	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	185					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						ATTGGACATAGAAGCCAGTTT	0.493																																						uc001nvh.2		NaN																	0				ovary(1)|breast(1)	2						c.(553-555)TCT>TGT		syntaxin 5							250.0	269.0	262.0					11																	62592798		2201	4299	6500	SO:0001583	missense	6811				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity	g.chr11:62592798G>C	U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.554C>G	11.37:g.62592798G>C	ENSP00000294179:p.Ser185Cys					STX5_uc010rmi.1_Missense_Mutation_p.S89C|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Missense_Mutation_p.S131C|STX5_uc010rmj.1_Missense_Mutation_p.S185C|STX5_uc001nvj.2_5'UTR	p.S185C	NM_003164	NP_003155	Q13190	STX5_HUMAN			7	708	-			185			Cytoplasmic (Potential).		B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Missense_Mutation	SNP	ENST00000294179.3	37	c.554C>G	CCDS8038.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.55|18.55	3.648506|3.648506	0.67358|0.67358	.|.	.|.	ENSG00000162236|ENSG00000162236	ENST00000431400|ENST00000377897;ENST00000294179;ENST00000394690;ENST00000541317	.|T;T;T;T	.|0.18657	.|2.2;2.2;2.2;2.2	5.28|5.28	5.28|5.28	0.74379|0.74379	.|t-SNARE (1);Syntaxin, N-terminal (1);	.|0.109205	.|0.64402	.|D	.|0.000004	T|T	0.44519|0.44519	0.1297|0.1297	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.72982	.|0.965;0.979	T|T	0.28839|0.28839	-1.0031|-1.0031	5|10	.|0.72032	.|D	.|0.01	-2.6831|-2.6831	16.4525|16.4525	0.83996|0.83996	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|185;185	.|F8W8Q9;Q13190	.|.;STX5_HUMAN	V|C	40|185;185;131;89	.|ENSP00000367129:S185C;ENSP00000294179:S185C;ENSP00000378182:S131C;ENSP00000441428:S89C	.|ENSP00000294179:S185C	L|S	-|-	1|2	2|0	STX5|STX5	62349374|62349374	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.847000|0.847000	0.48162|0.48162	9.160000|9.160000	0.94734|0.94734	2.758000|2.758000	0.94735|0.94735	0.563000|0.563000	0.77884|0.77884	CTA|TCT		0.493	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1		NM_003164		234	155	0	0	0	0.01441	0	234	155		
NRXN2	9379	broad.mit.edu	37	11	64374714	64374714	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:64374714G>A	ENST00000377551.1	-	22	5304	c.5093C>T	c.(5092-5094)aCg>aTg	p.T1698M	NRXN2_ENST00000265459.6_Missense_Mutation_p.T1698M|NRXN2_ENST00000377559.3_Missense_Mutation_p.T1628M|NRXN2_ENST00000301894.2_Missense_Mutation_p.T652M|NRXN2_ENST00000409571.1_Missense_Mutation_p.T1691M			Q9P2S2	NRX2A_HUMAN	neurexin 2	1698					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTTGCTGGGCGTCTTGGGGGC	0.637																																						uc001oap.2		NaN																	0				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(1954-1956)ACG>ATG		neurexin 2 isoform beta precursor							38.0	45.0	42.0					11																	64374714		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64374714G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.5093C>T	11.37:g.64374714G>A	ENSP00000366774:p.Thr1698Met					NRXN2_uc001oar.2_Missense_Mutation_p.T1698M|NRXN2_uc001oas.2_Missense_Mutation_p.T1628M|NRXN2_uc001oao.2_Missense_Mutation_p.T338M|NRXN2_uc001oaq.2_Missense_Mutation_p.T1365M	p.T652M	NM_138734	NP_620063	P58401	NRX2B_HUMAN			8	2466	-			652			Cytoplasmic (Potential).		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.1955C>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636477	0.47049	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T;T	0.62941	0.45;-0.01;0.02;-0.01;0.09	4.45	3.46	0.39613	.	0.000000	0.43260	U	0.000582	T	0.70937	0.3281	L	0.47716	1.5	0.37180	D	0.90345	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;P;D;D	0.87578	0.998;0.899;0.997;0.972	T	0.77035	-0.2737	10	0.87932	D	0	.	11.4939	0.50398	0.0:0.1836:0.8164:0.0	.	1628;1698;1444;652	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	M	652;1698;1628;1698;1628;1691	ENSP00000301894:T652M;ENSP00000366774:T1698M;ENSP00000366782:T1628M;ENSP00000265459:T1698M;ENSP00000386416:T1691M	ENSP00000265459:T1698M	T	-	2	0	NRXN2	64131290	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	2.993000	0.49425	2.029000	0.59856	0.305000	0.20034	ACG		0.637	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3		NM_015080		9	31	0	0	0	0.008291	0	9	31		
NRXN2	9379	broad.mit.edu	37	11	64428312	64428312	+	Missense_Mutation	SNP	G	G	A	rs536698209	byFrequency	TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:64428312G>A	ENST00000377551.1	-	9	2309	c.2098C>T	c.(2098-2100)Cgc>Tgc	p.R700C	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000265459.6_Missense_Mutation_p.R700C|NRXN2_ENST00000377559.3_Missense_Mutation_p.R669C|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000409571.1_Missense_Mutation_p.R693C			Q9P2S2	NRX2A_HUMAN	neurexin 2	700	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCCCCATTGCGACAGGGGGCA	0.647													G|||	2	0.000399361	0.0	0.0	5008	,	,		19229	0.0		0.0	False		,,,				2504	0.002					uc001oar.2		NaN																	0				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(2098-2100)CGC>TGC		neurexin 2 isoform alpha-1 precursor							70.0	69.0	70.0					11																	64428312		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64428312G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2098C>T	11.37:g.64428312G>A	ENSP00000366774:p.Arg700Cys					NRXN2_uc001oas.2_Missense_Mutation_p.R669C|NRXN2_uc001oaq.2_Missense_Mutation_p.R367C	p.R700C	NM_015080	NP_055895	P58401	NRX2B_HUMAN			11	2537	-			Error:Variant_position_missing_in_P58401_after_alignment					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.2098C>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226912	0.58668	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	4.52	3.56	0.40772	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.148030	0.27636	U	0.018492	T	0.65533	0.2700	L	0.52759	1.655	0.46499	D	0.999078	D;D;D	0.63046	0.987;0.992;0.989	P;P;P	0.55667	0.781;0.731;0.54	T	0.67692	-0.5605	10	0.62326	D	0.03	.	10.0556	0.42244	0.0:0.0:0.6711:0.3289	.	669;700;446	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	C	700;669;700;669;693	ENSP00000366774:R700C;ENSP00000366782:R669C;ENSP00000265459:R700C;ENSP00000386416:R693C	ENSP00000265459:R700C	R	-	1	0	NRXN2	64184888	0.004000	0.15560	0.998000	0.56505	0.815000	0.46073	1.144000	0.31565	2.355000	0.79922	0.555000	0.69702	CGC		0.647	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3		NM_015080		41	29	0	0	0	0.01441	0	41	29		
NAALADL1	10004	broad.mit.edu	37	11	64811717	64811717	+	IGR	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:64811717G>A	ENST00000358658.3	-	0	2699				SAC3D1_ENST00000531072.1_Missense_Mutation_p.E199K|SAC3D1_ENST00000530213.1_3'UTR|SAC3D1_ENST00000398846.1_Missense_Mutation_p.E199K	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						AGCCCTGCATGAGGTTCTACA	0.642																																						uc001ocm.2		NaN																	0					0						c.(595-597)GAG>AAG		SAC3 domain containing 1							26.0	32.0	30.0					11																	64811717		2095	4207	6302	SO:0001628	intergenic_variant	29901							g.chr11:64811717G>A	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595		11.37:g.64811717G>A						SAC3D1_uc010rnv.1_Missense_Mutation_p.E186K	p.E199K	NM_013299	NP_037431					2	984	+								C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.595G>A	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698026	0.30142	.	.	ENSG00000168061	ENST00000531072;ENST00000398846;ENST00000301885	T;T	0.32753	1.44;1.44	4.52	3.53	0.40419	.	0.362164	0.19998	N	0.101403	T	0.25754	0.0627	L	0.51422	1.61	0.28071	N	0.932596	P	0.35033	0.481	B	0.36244	0.22	T	0.16364	-1.0405	10	0.54805	T	0.06	-13.5945	5.85	0.18687	0.1042:0.1963:0.6994:0.0	.	245	A6NKF1	SAC31_HUMAN	K	199;199;244	ENSP00000436649:E199K;ENSP00000381824:E199K	ENSP00000301885:E244K	E	+	1	0	SAC3D1	64568293	0.413000	0.25400	0.934000	0.37439	0.046000	0.14306	1.400000	0.34577	2.496000	0.84212	0.561000	0.74099	GAG		0.642	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1		NM_005468		14	56	0	0	0	0.003163	0	14	56		
SNX32	254122	broad.mit.edu	37	11	65617466	65617466	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:65617466G>T	ENST00000308342.6	+	3	642	c.217G>T	c.(217-219)Gcc>Tcc	p.A73S		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	73	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		GCTGCATGATGCCTACGTGGA	0.632																																						uc001ofr.2		NaN																	0					0						c.(217-219)GCC>TCC		sorting nexin 6B							78.0	65.0	69.0					11																	65617466		2201	4297	6498	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65617466G>T	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.217G>T	11.37:g.65617466G>T	ENSP00000310620:p.Ala73Ser					SNX32_uc009yqt.2_3'UTR|SNX32_uc010rop.1_Missense_Mutation_p.A73S	p.A73S	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	3	344	+			73			PX.		Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.217G>T	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	G	4.164	0.029015	0.08054	.	.	ENSG00000172803	ENST00000308342;ENST00000536740	T	0.38401	1.14	4.47	1.28	0.21552	Phox homologous domain (4);	0.239091	0.29537	N	0.011867	T	0.13329	0.0323	N	0.05510	-0.035	0.27334	N	0.956699	B;B	0.29508	0.246;0.002	B;B	0.32805	0.153;0.009	T	0.11446	-1.0587	10	0.14252	T	0.57	-10.1381	0.4645	0.00522	0.2635:0.1945:0.3441:0.1979	.	73;73	B4DEX0;Q86XE0	.;SNX32_HUMAN	S	73	ENSP00000310620:A73S	ENSP00000310620:A73S	A	+	1	0	SNX32	65374042	0.019000	0.18553	0.106000	0.21319	0.639000	0.38242	0.158000	0.16422	0.058000	0.16222	0.561000	0.74099	GCC		0.632	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3		NM_152760		31	22	1	0	1.56738e-10	0.004289	1.78803e-10	31	22		
RBM14	10432	broad.mit.edu	37	11	66384255	66384255	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:66384255T>A	ENST00000310137.4	+	1	203	c.64T>A	c.(64-66)Ttt>Att	p.F22I	RBM14_ENST00000409738.4_Missense_Mutation_p.F22I|RBM14_ENST00000443702.1_Missense_Mutation_p.F22I|RBM4_ENST00000503028.2_De_novo_Start_InFrame|RBM14_ENST00000393979.3_Missense_Mutation_p.F22I|RBM14_ENST00000409372.1_Missense_Mutation_p.F22I|RBM14-RBM4_ENST00000511114.1_3'UTR|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.F22I|RNU4-39P_ENST00000362455.1_RNA|RBM14-RBM4_ENST00000500635.2_Missense_Mutation_p.F22I|RBM4_ENST00000514361.3_Missense_Mutation_p.F22I	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	22	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCAGCCCTCTTTGCGCCCTA	0.647																																						uc001oit.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(64-66)TTT>ATT		RNA binding motif protein 14							35.0	34.0	34.0					11																	66384255		2200	4295	6495	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66384255T>A	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.64T>A	11.37:g.66384255T>A	ENSP00000311747:p.Phe22Ile					RBM14_uc009yrh.2_Missense_Mutation_p.F22I|RBM14_uc009yri.2_Missense_Mutation_p.F22I|RBM4_uc009yrj.2_5'UTR|RBM4_uc009yrk.2_Missense_Mutation_p.F22I	p.F22I	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN			1	203	+			22			RRM 1.		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.64T>A	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	T	34	5.367107	0.95900	.	.	ENSG00000239306;ENSG00000239306;ENSG00000239306;ENSG00000239306;ENSG00000239306;ENSG00000248643;ENSG00000248643	ENST00000310137;ENST00000393979;ENST00000409372;ENST00000443702;ENST00000409738;ENST00000412278;ENST00000500635	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.3	5.3	0.74995	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.482596	0.21100	N	0.080174	T	0.76557	0.4004	H	0.94423	3.535	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.458	D;D;D;B	0.91635	0.999;0.998;0.999;0.192	T	0.82963	-0.0196	10	0.87932	D	0	-9.2616	13.1866	0.59684	0.0:0.0:0.0:1.0	.	22;22;22;22	B0LM41;Q96PK6-2;Q2PYN1;Q96PK6	.;.;.;RBM14_HUMAN	I	22	ENSP00000311747:F22I;ENSP00000377548:F22I;ENSP00000386518:F22I;ENSP00000414650:F22I;ENSP00000386995:F22I;ENSP00000388552:F22I;ENSP00000421279:F22I	ENSP00000311747:F22I	F	+	1	0	RBM14;RBM14-RBM4	66140831	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.086000	0.76885	2.009000	0.58944	0.379000	0.24179	TTT		0.647	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1		NM_006328		4	17	0	0	0	0.000602	0	4	17		
DNAJB13	374407	broad.mit.edu	37	11	73670624	73670624	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:73670624G>C	ENST00000339764.1	+	3	1009	c.258G>C	c.(256-258)tgG>tgC	p.W86C		NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	86					protein folding (GO:0006457)					large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					AGACCCCATGGACAACTGGTT	0.522																																						uc001ouo.2		NaN																	0					0						c.(256-258)TGG>TGC		testis spermatogenesis apoptosis-related protein							118.0	101.0	107.0					11																	73670624		2200	4293	6493	SO:0001583	missense	374407				apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding	g.chr11:73670624G>C	AF516185	CCDS8227.1	11q13.3	2011-09-02	2010-04-21		ENSG00000187726	ENSG00000187726		"""Heat shock proteins / DNAJ (HSP40)"""	30718	protein-coding gene	gene with protein product	"""radial spoke 16 homolog A (Chlamydomonas)"""	610263	"""DnaJ (Hsp40) related, subfamily B, member 13"""				Standard	NM_153614		Approved	TSARG6, RSPH16A	uc001ouo.3	P59910	OTTHUMG00000168093	ENST00000339764.1:c.258G>C	11.37:g.73670624G>C	ENSP00000344431:p.Trp86Cys						p.W86C	NM_153614	NP_705842	P59910	DJB13_HUMAN			3	1009	+	Breast(11;7.42e-05)		86					B3LEP4|Q8IZW5	Missense_Mutation	SNP	ENST00000339764.1	37	c.258G>C	CCDS8227.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.164502	0.78339	.	.	ENSG00000187726	ENST00000339764	T	0.72725	-0.68	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.83018	0.5163	M	0.83384	2.64	0.80722	D	1	D	0.69078	0.997	P	0.57776	0.827	T	0.82200	-0.0575	10	0.39692	T	0.17	.	18.1185	0.89564	0.0:0.0:1.0:0.0	.	86	P59910	DJB13_HUMAN	C	86	ENSP00000344431:W86C	ENSP00000344431:W86C	W	+	3	0	DNAJB13	73348272	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.134000	0.94467	2.877000	0.98614	0.645000	0.84053	TGG		0.522	DNAJB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398100.1		NM_153614		73	23	0	0	0	0.01441	0	73	23		
C2CD3	26005	broad.mit.edu	37	11	73817441	73817441	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:73817441C>A	ENST00000334126.7	-	13	2286	c.2060G>T	c.(2059-2061)gGt>gTt	p.G687V	C2CD3_ENST00000313663.7_Missense_Mutation_p.G687V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	687					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGGAGACTGACCATTTTCTTG	0.438																																						uc001ouu.2		NaN																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(2059-2061)GGT>GTT		C2 calcium-dependent domain containing 3							98.0	91.0	93.0					11																	73817441		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73817441C>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2060G>T	11.37:g.73817441C>A	ENSP00000334379:p.Gly687Val						p.G687V	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			13	2287	-	Breast(11;4.16e-06)		687					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.2060G>T		.	.	.	.	.	.	.	.	.	.	C	6.454	0.451875	0.12283	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.10763	2.84;2.86	5.47	1.35	0.21983	.	0.382752	0.28161	N	0.016379	T	0.19287	0.0463	L	0.60455	1.87	0.22253	N	0.999257	D	0.59767	0.986	P	0.59546	0.859	T	0.05886	-1.0858	10	0.46703	T	0.11	0.1206	6.5736	0.22553	0.1139:0.5259:0.0:0.3602	.	687	Q4AC94-1	.	V	687	ENSP00000334379:G687V;ENSP00000323339:G687V	ENSP00000323339:G687V	G	-	2	0	C2CD3	73495089	0.857000	0.29778	0.676000	0.29932	0.069000	0.16628	0.469000	0.22067	-0.134000	0.11516	-1.937000	0.00501	GGT		0.438	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015531		30	87	1	0	2.32173e-10	0.004878	2.63579e-10	30	87		
CAPN5	726	broad.mit.edu	37	11	76796098	76796098	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:76796098G>T	ENST00000278559.3	+	2	354		c.e2+1		CAPN5_ENST00000456580.2_Splice_Site|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Splice_Site	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5						proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.?(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GCGACCCAAGGTCAGTGTCTG	0.677																																						uc001oxx.2		NaN																	1	Unknown(1)		lung(1)		0						c.e2+1		calpain 5							19.0	21.0	21.0					11																	76796098		2199	4292	6491	SO:0001630	splice_region_variant	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76796098G>T		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.165+1G>T	11.37:g.76796098G>T						CAPN5_uc009yup.2_Splice_Site_p.K55_splice|CAPN5_uc009yuq.2_Splice_Site_p.K91_splice|CAPN5_uc001oxy.2_Splice_Site_p.K95_splice	p.K55_splice	NM_004055	NP_004046	O15484	CAN5_HUMAN			2	350	+								O00263	Splice_Site	SNP	ENST00000278559.3	37	c.165_splice	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094251	0.76870	.	.	ENSG00000149260	ENST00000278559;ENST00000527066;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5849	0.76473	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAPN5	76473746	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.773000	0.91762	2.268000	0.75426	0.650000	0.86243	.		0.677	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2		NM_004055	Intron	6	28	1	0	8.12818e-05	0.001984	8.48944e-05	6	28		
ACAT1	38	broad.mit.edu	37	11	108009666	108009666	+	Silent	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:108009666T>C	ENST00000265838.4	+	6	568	c.477T>C	c.(475-477)gtT>gtC	p.V159V		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	159					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	TGTCCAATGTTCCATATGTAA	0.398																																						uc001pjy.2		NaN																	0				ovary(3)	3						c.(475-477)GTT>GTC		acetyl-Coenzyme A acetyltransferase 1 precursor	Sulfasalazine(DB00795)						217.0	192.0	201.0					11																	108009666		2201	4298	6499	SO:0001819	synonymous_variant	38				acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding	g.chr11:108009666T>C	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.477T>C	11.37:g.108009666T>C						ACAT1_uc001pjx.2_Silent_p.V33V	p.V159V	NM_000019	NP_000010	P24752	THIL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	6	553	+		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	159					B2R6H1|G3XAB4|Q96FG8	Silent	SNP	ENST00000265838.4	37	c.477T>C	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.407134	0.42715	.	.	ENSG00000075239	ENST00000528370	.	.	.	5.74	-9.48	0.00591	.	.	.	.	.	T	0.56529	0.1991	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65861	-0.6065	4	.	.	.	-27.4936	12.2707	0.54704	0.0:0.529:0.1883:0.2828	.	.	.	.	P	95	.	.	S	+	1	0	ACAT1	107514876	0.002000	0.14202	0.000000	0.03702	0.804000	0.45430	-1.611000	0.02062	-2.465000	0.00533	-0.323000	0.08544	TCC		0.398	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1		NM_000019		54	171	0	0	0	0.01441	0	54	171		
HINFP	25988	broad.mit.edu	37	11	118997680	118997680	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:118997680G>A	ENST00000350777.2	+	2	89	c.26G>A	c.(25-27)cGa>cAa	p.R9Q	HINFP_ENST00000527354.1_Intron|HINFP_ENST00000527410.1_Missense_Mutation_p.R9Q	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	9					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAAGTTCCCCGAAAGGAGAAT	0.537																																						uc001pvp.2		NaN																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(25-27)CGA>CAA		MBD2 (methyl-CpG-binding protein)-interacting							111.0	107.0	108.0					11																	118997680		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:118997680G>A	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.26G>A	11.37:g.118997680G>A	ENSP00000318085:p.Arg9Gln					HINFP_uc010rzb.1_Missense_Mutation_p.R9Q|HINFP_uc001pvq.2_Missense_Mutation_p.R9Q	p.R9Q	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN			3	215	+			9					B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.26G>A	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889282	0.52014	.	.	ENSG00000172273	ENST00000350777;ENST00000529988;ENST00000527410;ENST00000530678;ENST00000532312	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.64	5.64	0.86602	.	0.191010	0.46145	D	0.000313	T	0.29749	0.0743	N	0.17474	0.49	0.37139	D	0.901632	D;B	0.63046	0.992;0.154	P;B	0.48488	0.579;0.006	T	0.12967	-1.0527	10	0.30854	T	0.27	-19.568	13.593	0.61971	0.0751:0.0:0.9249:0.0	.	9;9	B4DTN3;Q9BQA5	.;HINFP_HUMAN	Q	9	ENSP00000318085:R9Q;ENSP00000431468:R9Q;ENSP00000436815:R9Q;ENSP00000433836:R9Q;ENSP00000434574:R9Q	ENSP00000318085:R9Q	R	+	2	0	HINFP	118502890	0.626000	0.27120	0.995000	0.50966	0.778000	0.44026	2.434000	0.44802	2.660000	0.90430	0.655000	0.94253	CGA		0.537	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2		NM_015517		80	46	0	0	0	0.01441	0	80	46		
KCNH3	23416	broad.mit.edu	37	12	49944089	49944089	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr12:49944089G>T	ENST00000257981.6	+	10	2155	c.1895G>T	c.(1894-1896)gGt>gTt	p.G632V		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	632					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GTGCTCAAGGGTGGCACCGTG	0.632																																						uc001ruh.1		NaN																	0					0						c.(1894-1896)GGT>GTT		potassium voltage-gated channel, subfamily H							71.0	65.0	67.0					12																	49944089		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49944089G>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1895G>T	12.37:g.49944089G>T	ENSP00000257981:p.Gly632Val					KCNH3_uc010smj.1_Missense_Mutation_p.G572V	p.G632V	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			10	2155	+			632			cNMP.|Cytoplasmic (Potential).		Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.1895G>T	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.139246	0.56936	.	.	ENSG00000135519	ENST00000257981	D	0.96940	-4.18	5.48	3.58	0.41010	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.49305	D	0.000152	D	0.93468	0.7916	L	0.46819	1.47	0.80722	D	1	B	0.19331	0.035	B	0.32583	0.148	D	0.90408	0.4407	10	0.87932	D	0	.	5.1734	0.15122	0.1673:0.182:0.6507:0.0	.	632	Q9ULD8	KCNH3_HUMAN	V	632	ENSP00000257981:G632V	ENSP00000257981:G632V	G	+	2	0	KCNH3	48230356	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.284000	0.65627	1.426000	0.47256	0.655000	0.94253	GGT		0.632	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2		NM_012284		18	78	1	0	6.12954e-19	0.004656	7.5023e-19	18	78		
GTSF1	121355	broad.mit.edu	37	12	54854248	54854248	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr12:54854248T>C	ENST00000552397.1	-	7	1296	c.400A>G	c.(400-402)Agc>Ggc	p.S134G	GTSF1_ENST00000552395.1_5'UTR|GTSF1_ENST00000305879.5_Missense_Mutation_p.S134G|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	134						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				ACTATGTTGCTCGCAGGGCTG	0.413																																						uc001sgb.2		NaN																	0					0						c.(400-402)AGC>GGC		gametocyte specific factor 1							89.0	88.0	88.0					12																	54854248		2203	4300	6503	SO:0001583	missense	121355						metal ion binding	g.chr12:54854248T>C	AK098819	CCDS8881.1	12q13.2	2008-02-04	2007-11-27	2007-11-27		ENSG00000170627			26565	protein-coding gene	gene with protein product			"""family with sequence similarity 112, member B"""	FAM112B		12477932	Standard	NM_144594		Approved	FLJ32942	uc001sgb.3	Q8WW33		ENST00000552397.1:c.400A>G	12.37:g.54854248T>C	ENSP00000446485:p.Ser134Gly						p.S134G	NM_144594	NP_653195	Q8WW33	GTSF1_HUMAN			7	486	-		Myeloproliferative disorder(1001;0.00452)	134					B3KQ60|Q0VGM4|Q8N778	Missense_Mutation	SNP	ENST00000552397.1	37	c.400A>G	CCDS8881.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.863934	0.51482	.	.	ENSG00000170627	ENST00000552397;ENST00000305879	T;T	0.45276	0.9;0.9	5.57	5.57	0.84162	.	0.444786	0.27012	N	0.021372	T	0.26085	0.0636	N	0.14661	0.345	0.24466	N	0.994414	B	0.17038	0.02	B	0.14023	0.01	T	0.12734	-1.0536	10	0.23891	T	0.37	-14.0279	12.1822	0.54218	0.0:0.0:0.0:1.0	.	134	Q8WW33	GTSF1_HUMAN	G	134	ENSP00000446485:S134G;ENSP00000304185:S134G	ENSP00000304185:S134G	S	-	1	0	GTSF1	53140515	0.959000	0.32827	1.000000	0.80357	0.918000	0.54935	1.257000	0.32932	2.127000	0.65507	0.529000	0.55759	AGC		0.413	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406187.1		NM_144594		18	27	0	0	0	0.008871	0	18	27		
PMEL	6490	broad.mit.edu	37	12	56355112	56355112	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr12:56355112G>T	ENST00000548747.1	-	3	985	c.323C>A	c.(322-324)aCc>aAc	p.T108N	PMEL_ENST00000449260.2_Missense_Mutation_p.T108N|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000550447.1_Missense_Mutation_p.T71N|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000552882.1_Missense_Mutation_p.T108N|PMEL_ENST00000536427.1_Missense_Mutation_p.T108N|PMEL_ENST00000548493.1_Missense_Mutation_p.T108N|PMEL_ENST00000360714.4_Missense_Mutation_p.T108N|PMEL_ENST00000550464.1_Intron			P40967	PMEL_HUMAN	premelanosome protein	108					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATTGATGATGGTATTGTTGAC	0.488																																						uc001sip.2		NaN																	0					0						c.(322-324)ACC>AAC		silver homolog							187.0	164.0	172.0					12																	56355112		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56355112G>T	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.323C>A	12.37:g.56355112G>T	ENSP00000448828:p.Thr108Asn					SILV_uc001siq.2_Missense_Mutation_p.T108N|SILV_uc010spx.1_Intron|SILV_uc001sir.2_Missense_Mutation_p.T108N	p.T108N	NM_006928	NP_008859	P40967	PMEL_HUMAN			3	354	-			108					B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.323C>A	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	g	13.56	2.274063	0.40194	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000550447;ENST00000548803;ENST00000547137;ENST00000549418;ENST00000549233	T;T;T;T;T;T;T;T	0.32272	3.07;3.05;3.05;3.05;3.04;2.68;1.46;2.45	5.15	3.21	0.36854	.	0.558128	0.16471	N	0.212977	T	0.35740	0.0942	L	0.57536	1.79	0.80722	D	1	P;P	0.49559	0.925;0.813	P;B	0.48227	0.571;0.328	T	0.18461	-1.0336	10	0.59425	D	0.04	-5.9836	9.2739	0.37688	0.0886:0.2555:0.6559:0.0	.	108;108	P40967-2;P40967	.;PMEL_HUMAN	N	108;108;108;108;108;108;71;108;108;108;111	ENSP00000402758:T108N;ENSP00000449690:T108N;ENSP00000448828:T108N;ENSP00000447374:T108N;ENSP00000353940:T108N;ENSP00000438695:T108N;ENSP00000447732:T108N;ENSP00000448849:T108N	ENSP00000353940:T108N	T	-	2	0	PMEL	54641379	1.000000	0.71417	0.627000	0.29227	0.962000	0.63368	3.598000	0.54038	1.305000	0.44909	0.643000	0.83706	ACC		0.488	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1		NM_006928		32	19	1	0	9.8876e-21	0.004878	1.23595e-20	32	19		
ERBB3	2065	broad.mit.edu	37	12	56481649	56481649	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr12:56481649T>A	ENST00000267101.3	+	6	1124	c.684T>A	c.(682-684)caT>caA	p.H228Q	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.H169Q	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	228					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGTGCTGCCATGATGAGTGTG	0.537																																						uc001sjh.2		NaN																	0				lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(682-684)CAT>CAA		erbB-3 isoform 1 precursor							140.0	132.0	135.0					12																	56481649		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56481649T>A	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.684T>A	12.37:g.56481649T>A	ENSP00000267101:p.His228Gln					ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.H169Q|ERBB3_uc001sji.2_5'Flank	p.H228Q	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		6	877	+			228			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.684T>A	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.002161	0.74932	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	D;D	0.85411	-1.98;-1.98	5.69	2.07	0.26955	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.081748	0.50627	D	0.000103	D	0.93733	0.7997	H	0.96662	3.86	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.91999	0.5609	10	0.87932	D	0	.	8.6302	0.33915	0.0:0.2303:0.0:0.7697	.	228	P21860	ERBB3_HUMAN	Q	228;228;169	ENSP00000267101:H228Q;ENSP00000408340:H169Q	ENSP00000267101:H228Q	H	+	3	2	ERBB3	54767916	0.861000	0.29849	0.998000	0.56505	0.981000	0.71138	0.077000	0.14738	0.113000	0.18004	0.533000	0.62120	CAT		0.537	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3				52	121	0	0	0	0.01441	0	52	121		
CEP290	80184	broad.mit.edu	37	12	88486515	88486515	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr12:88486515C>A	ENST00000552810.1	-	29	3747	c.3404G>T	c.(3403-3405)aGg>aTg	p.R1135M	CEP290_ENST00000547691.2_Missense_Mutation_p.R195M|CEP290_ENST00000309041.7_Missense_Mutation_p.R1137M|CEP290_ENST00000397838.3_Missense_Mutation_p.R195M	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1135					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AATCCGTTGCCTATCAGCATC	0.368																																						uc001tar.2		NaN																	0				ovary(5)|breast(1)|pancreas(1)	7						c.(3403-3405)AGG>ATG		centrosomal protein 290kDa							218.0	204.0	209.0					12																	88486515		1943	4160	6103	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88486515C>A	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3404G>T	12.37:g.88486515C>A	ENSP00000448012:p.Arg1135Met					CEP290_uc001taq.2_Missense_Mutation_p.R195M	p.R1135M	NM_025114	NP_079390	O15078	CE290_HUMAN			29	3748	-			1135			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.3404G>T	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340552	0.81911	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.67171	0.29;-0.25;-0.25;0.29	5.83	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.79975	0.4539	M	0.68952	2.095	0.43714	D	0.996189	D	0.89917	1.0	D	0.75484	0.986	T	0.81936	-0.0705	10	0.62326	D	0.03	.	15.1236	0.72465	0.0:0.9319:0.0:0.0681	.	1135	O15078	CE290_HUMAN	M	195;1135;1137;195	ENSP00000446905:R195M;ENSP00000448012:R1135M;ENSP00000308021:R1137M;ENSP00000380938:R195M	ENSP00000308021:R1137M	R	-	2	0	CEP290	87010646	1.000000	0.71417	0.747000	0.31113	0.950000	0.60333	7.153000	0.77428	1.472000	0.48140	0.591000	0.81541	AGG		0.368	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1		NM_025114		28	59	1	0	1.16021e-09	0.007291	1.30454e-09	28	59		
SRRM4	84530	broad.mit.edu	37	12	119568521	119568521	+	Missense_Mutation	SNP	G	G	A	rs376151397		TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr12:119568521G>A	ENST00000267260.4	+	8	1041	c.653G>A	c.(652-654)cGc>cAc	p.R218H	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	218	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CAGAAGTCCCGCCGAAGGCAC	0.652																																						uc001txa.1		NaN																	0				ovary(2)	2						c.(652-654)CGC>CAC		KIAA1853 protein		G	HIS/ARG	1,3807		0,1,1903	18.0	23.0	21.0		653	3.2	1.0	12		21	0,8198		0,0,4099	no	missense	SRRM4	NM_194286.3	29	0,1,6002	AA,AG,GG		0.0,0.0263,0.0083	benign	218/612	119568521	1,12005	1904	4099	6003	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119568521G>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.653G>A	12.37:g.119568521G>A	ENSP00000267260:p.Arg218His						p.R218H	NM_194286	NP_919262	A7MD48	SRRM4_HUMAN			8	945	+			218			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.653G>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046214	0.55110	2.63E-4	0.0	ENSG00000139767	ENST00000267260	T	0.25085	1.82	5.07	3.24	0.37175	.	0.281027	0.30704	N	0.009044	T	0.15305	0.0369	N	0.19112	0.55	0.32837	D	0.504804	B	0.23990	0.095	B	0.20384	0.029	T	0.10776	-1.0615	10	0.42905	T	0.14	-7.4318	8.8665	0.35289	0.1736:0.0:0.8264:0.0	.	218	A7MD48	SRRM4_HUMAN	H	218	ENSP00000267260:R218H	ENSP00000267260:R218H	R	+	2	0	SRRM4	118052904	0.960000	0.32886	0.997000	0.53966	0.969000	0.65631	0.436000	0.21526	0.541000	0.28827	0.448000	0.29417	CGC		0.652	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2		NM_194286		11	10	0	0	0	0.008291	0	11	10		
TCTN2	79867	broad.mit.edu	37	12	124158196	124158196	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr12:124158196G>T	ENST00000303372.5	+	4	430	c.302G>T	c.(301-303)gGt>gTt	p.G101V	TCTN2_ENST00000426174.2_Missense_Mutation_p.G100V	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	101					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGGAAGAGAGGTCTGGACTGG	0.433																																						uc001ufp.2		NaN																	0				ovary(1)	1						c.(301-303)GGT>GTT		tectonic family member 2 isoform 1							185.0	181.0	183.0					12																	124158196		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124158196G>T	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.302G>T	12.37:g.124158196G>T	ENSP00000304941:p.Gly101Val					TCTN2_uc009zya.2_Missense_Mutation_p.G100V	p.G101V	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	4	430	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		101			Extracellular (Potential).		A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.302G>T	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604209	0.28534	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.82803	-1.65;-1.65	5.05	-2.76	0.05896	.	0.996321	0.08129	N	0.993454	T	0.76271	0.3964	L	0.51422	1.61	0.09310	N	1	B;B	0.23735	0.09;0.09	B;B	0.24006	0.05;0.05	T	0.63567	-0.6608	10	0.72032	D	0.01	-22.4314	7.5664	0.27881	0.7044:0.1421:0.1535:0.0	.	100;101	A8K7Y8;Q96GX1	.;TECT2_HUMAN	V	100;101	ENSP00000395171:G100V;ENSP00000304941:G101V	ENSP00000304941:G101V	G	+	2	0	TCTN2	122724149	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.536000	0.06135	-0.812000	0.04363	-0.145000	0.13849	GGT		0.433	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1		NM_024809		21	71	1	0	2.48779e-11	0.005443	2.86584e-11	21	71		
TMEM132B	114795	broad.mit.edu	37	12	126135372	126135372	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr12:126135372G>T	ENST00000299308.3	+	7	1780	c.1772G>T	c.(1771-1773)gGc>gTc	p.G591V	TMEM132B_ENST00000535886.1_Missense_Mutation_p.G103V	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	591						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TACATGCTGGGCCCCGACTGG	0.597																																						uc001uhe.1		NaN																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(1771-1773)GGC>GTC		transmembrane protein 132B							69.0	76.0	74.0					12																	126135372		2155	4253	6408	SO:0001583	missense	114795					integral to membrane		g.chr12:126135372G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1772G>T	12.37:g.126135372G>T	ENSP00000299308:p.Gly591Val					TMEM132B_uc001uhf.1_Missense_Mutation_p.G103V	p.G591V	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	7	1780	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		591			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.1772G>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152988	0.78001	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.31510	1.49;1.49	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000005	T	0.59376	0.2189	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.64905	-0.6297	10	0.87932	D	0	.	18.6079	0.91273	0.0:0.0:1.0:0.0	.	591	Q14DG7	T132B_HUMAN	V	591;103	ENSP00000299308:G591V;ENSP00000440436:G103V	ENSP00000299308:G591V	G	+	2	0	TMEM132B	124701325	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	9.545000	0.98095	2.358000	0.79984	0.650000	0.86243	GGC		0.597	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1		NM_052907		18	53	1	0	2.21704e-12	0.00278	2.57922e-12	18	53		
CDK8	1024	broad.mit.edu	37	13	26828866	26828866	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr13:26828866G>T	ENST00000381527.3	+	1	591	c.88G>T	c.(88-90)Ggc>Tgc	p.G30C	CDK8_ENST00000536792.1_Missense_Mutation_p.G30C	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	30	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AGTTGGCCGAGGCACTTATGG	0.592																																						uc001uqr.1		NaN																	0				lung(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(88-90)GGC>TGC		cyclin-dependent kinase 8							146.0	134.0	138.0					13																	26828866		2203	4300	6503	SO:0001583	missense	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26828866G>T	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.88G>T	13.37:g.26828866G>T	ENSP00000370938:p.Gly30Cys					CDK8_uc001uqs.1_Missense_Mutation_p.G30C|CDK8_uc001uqt.1_Translation_Start_Site	p.G30C	NM_001260	NP_001251	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	1	114	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	30			Protein kinase.|ATP (By similarity).		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	c.88G>T	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371407	0.82573	.	.	ENSG00000132964	ENST00000381527;ENST00000536792	D;D	0.96365	-3.99;-3.99	5.25	4.4	0.53042	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.108655	0.64402	D	0.000006	D	0.98902	0.9628	H	0.98918	4.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98860	1.0762	10	0.87932	D	0	-5.6625	13.3668	0.60689	0.0757:0.0:0.9243:0.0	.	30;30	P49336-2;P49336	.;CDK8_HUMAN	C	30	ENSP00000370938:G30C;ENSP00000437696:G30C	ENSP00000370938:G30C	G	+	1	0	CDK8	25726866	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	8.704000	0.91351	1.221000	0.43506	0.561000	0.74099	GGC		0.592	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1				16	21	1	0	5.3912e-06	0.006122	5.81162e-06	16	21		
N4BP2L2	10443	broad.mit.edu	37	13	33096357	33096357	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr13:33096357T>C	ENST00000267068.3	-	4	1599	c.1435A>G	c.(1435-1437)Aat>Gat	p.N479D	N4BP2L2_ENST00000446957.2_Missense_Mutation_p.N479D|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.N50D|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.N35D|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.N35D	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	479					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GCTTGTATATTAGTGTTATCT	0.254																																						uc001uuk.3		NaN																	0					0						c.(1435-1437)AAT>GAT		phosphonoformate immuno-associated protein 5							110.0	116.0	114.0					13																	33096357		2202	4294	6496	SO:0001583	missense	10443							g.chr13:33096357T>C	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.1435A>G	13.37:g.33096357T>C	ENSP00000267068:p.Asn479Asp					N4BP2L2_uc001uuj.2_5'UTR|N4BP2L2_uc010abe.1_Missense_Mutation_p.N50D|N4BP2L2_uc010tdz.1_Missense_Mutation_p.N35D	p.N479D	NM_014887	NP_055702	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	4	1613	-		Lung SC(185;0.0262)	479					A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	c.1435A>G	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661187	0.67700	.	.	ENSG00000244754	ENST00000504114;ENST00000357505;ENST00000399396;ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.55413	0.52;0.52;0.52	5.46	5.46	0.80206	.	.	.	.	.	T	0.73458	0.3589	M	0.77820	2.39	0.33372	D	0.573702	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.999	T	0.82908	-0.0224	9	0.87932	D	0	-10.6864	15.5181	0.75840	0.0:0.0:0.0:1.0	.	35;50;479	B4DPY1;Q92802-3;Q92802	.;.;N42L2_HUMAN	D	35;35;50;479;479;479	ENSP00000394239:N479D;ENSP00000423362:N479D;ENSP00000267068:N479D	ENSP00000267068:N479D	N	-	1	0	N4BP2L2	31994357	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.903000	0.75703	2.074000	0.62210	0.482000	0.46254	AAT		0.254	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1		NM_014887		51	68	0	0	0	0.01441	0	51	68		
RB1	5925	broad.mit.edu	37	13	48955538	48955538	+	Nonsense_Mutation	SNP	C	C	T	rs121913303		TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr13:48955538C>T	ENST00000267163.4	+	17	1792	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	552	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R552*(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACATTTAGAACGATGTGAACA	0.323	R552*(NCIH1048_LUNG)	6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2	R552*(NCIH1048_LUNG)	6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		28	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(5)	p.?(7)|p.R552*(5)	bone(11)|breast(5)|eye(4)|central_nervous_system(3)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CM961229	RB1	M	rs121913303	c.(1654-1656)CGA>TGA		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						85.0	79.0	81.0					13																	48955538		2203	4300	6503	SO:0001587	stop_gained	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48955538C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1654C>T	13.37:g.48955538C>T	ENSP00000267163:p.Arg552*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R552*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	17	1820	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	552			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1654C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	38	7.055045	0.98032	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.34	1.21	0.21127	.	0.199610	0.42548	D	0.000698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4955	0.38986	0.5195:0.4131:0.0:0.0674	.	.	.	.	X	531;552	.	ENSP00000267163:R552X	R	+	1	2	RB1	47853539	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	1.565000	0.36386	-0.113000	0.11958	0.650000	0.86243	CGA		0.323	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1				17	24	0	0	0	0.00278	0	17	24		
KLHL1	57626	broad.mit.edu	37	13	70314576	70314576	+	Silent	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr13:70314576G>A	ENST00000377844.4	-	8	2511	c.1752C>T	c.(1750-1752)gcC>gcT	p.A584A	KLHL1_ENST00000545028.1_Silent_p.A391A	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	584					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTGACATACTGGCTACAAATG	0.403																																						uc001vip.2		NaN																	0					0						c.(1750-1752)GCC>GCT		kelch-like 1 protein							99.0	87.0	91.0					13																	70314576		2203	4300	6503	SO:0001819	synonymous_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70314576G>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1752C>T	13.37:g.70314576G>A						KLHL1_uc010thm.1_Silent_p.A523A	p.A584A	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	8	2546	-		Breast(118;0.000162)	584			Kelch 3.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.1752C>T	CCDS9445.1																																																																																				0.403	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3		NM_020866		31	42	0	0	0	0.006999	0	31	42		
GPC5	2262	broad.mit.edu	37	13	92560246	92560246	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr13:92560246G>A	ENST00000377067.3	+	6	1708	c.1336G>A	c.(1336-1338)Gtc>Atc	p.V446I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	446					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AAATCCTGAAGTCAAAGTCAA	0.378																																						uc010tif.1		NaN																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(1336-1338)GTC>ATC		glypican 5 precursor							66.0	68.0	67.0					13																	92560246		1346	2299	3645	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92560246G>A	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1336G>A	13.37:g.92560246G>A	ENSP00000366267:p.Val446Ile						p.V446I	NM_004466	NP_004457	P78333	GPC5_HUMAN			6	1702	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	446					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1336G>A	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698128	0.30142	.	.	ENSG00000179399	ENST00000377067	T	0.58506	0.33	4.84	2.12	0.27331	.	0.304152	0.30630	N	0.009210	T	0.41396	0.1157	L	0.38953	1.18	0.31240	N	0.695232	B	0.24675	0.109	B	0.29077	0.098	T	0.36553	-0.9743	10	0.11794	T	0.64	-8.287	7.7001	0.28617	0.2673:0.0:0.7327:0.0	.	446	P78333	GPC5_HUMAN	I	446	ENSP00000366267:V446I	ENSP00000366267:V446I	V	+	1	0	GPC5	91358247	1.000000	0.71417	0.999000	0.59377	0.783000	0.44284	4.833000	0.62766	0.584000	0.29591	-0.237000	0.12165	GTC		0.378	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1		NM_004466		36	38	0	0	0	0.007835	0	36	38		
FAM179B	23116	broad.mit.edu	37	14	45431955	45431955	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr14:45431955G>A	ENST00000361577.3	+	1	545	c.331G>A	c.(331-333)Gag>Aag	p.E111K	FAM179B_ENST00000361462.2_Missense_Mutation_p.E111K|KLHL28_ENST00000553817.1_5'Flank|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.E111K	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	111										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GGATCCTTCTGAGGCCTTCCA	0.622																																						uc001wvv.2		NaN																	0				skin(2)|upper_aerodigestive_tract(1)	3						c.(331-333)GAG>AAG		hypothetical protein LOC23116							57.0	64.0	62.0					14																	45431955		2203	4299	6502	SO:0001583	missense	23116						binding	g.chr14:45431955G>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.331G>A	14.37:g.45431955G>A	ENSP00000355045:p.Glu111Lys					FAM179B_uc001wvw.2_Missense_Mutation_p.E111K|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.E111K|FAM179B_uc001wvu.2_Missense_Mutation_p.E111K	p.E111K	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN			1	540	+			111					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.331G>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132912	0.77662	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.56275	0.47;0.47;0.47	4.88	4.88	0.63580	Armadillo-like helical (1);	0.000000	0.46758	D	0.000262	T	0.58133	0.2101	N	0.24115	0.695	0.33558	D	0.596949	D;D;D;D	0.61697	0.99;0.99;0.99;0.99	D;D;D;D	0.72982	0.979;0.979;0.979;0.979	T	0.69183	-0.5212	10	0.72032	D	0.01	-12.5264	13.4039	0.60900	0.0:0.0:1.0:0.0	.	111;111;111;111	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	K	111	ENSP00000355045:E111K;ENSP00000354917:E111K;ENSP00000371668:E111K	ENSP00000354917:E111K	E	+	1	0	FAM179B	44501705	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.503000	0.60407	2.526000	0.85167	0.655000	0.94253	GAG		0.622	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1		XM_113781		24	71	0	0	0	0.009535	0	24	71		
SYT16	83851	broad.mit.edu	37	14	62547819	62547819	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr14:62547819G>C	ENST00000430451.2	+	4	1458	c.1261G>C	c.(1261-1263)Gcc>Ccc	p.A421P	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	421	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGTCACCTTTGCCAAGCTGGA	0.567																																						uc001xfu.1		NaN																	0				central_nervous_system(1)	1						c.(1261-1263)GCC>CCC		synaptotagmin XIV-like							38.0	43.0	41.0					14																	62547819		2174	4276	6450	SO:0001583	missense	83851							g.chr14:62547819G>C	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1261G>C	14.37:g.62547819G>C	ENSP00000394700:p.Ala421Pro					SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	p.A421P	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	4	1458	+			421			C2 1.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.1261G>C	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	3.091	-0.186840	0.06299	.	.	ENSG00000139973	ENST00000430451	T	0.68479	-0.33	4.96	-9.93	0.00452	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.985959	0.08317	N	0.964511	T	0.33498	0.0865	N	0.01874	-0.695	0.09310	N	0.999997	B	0.13594	0.008	B	0.16722	0.016	T	0.49133	-0.8971	10	0.26408	T	0.33	-25.6862	12.2887	0.54807	0.7102:0.0:0.0796:0.2102	.	421	Q17RD7	SYT16_HUMAN	P	421	ENSP00000394700:A421P	ENSP00000394700:A421P	A	+	1	0	SYT16	61617572	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-1.546000	0.02188	-3.590000	0.00136	-1.148000	0.01847	GCC		0.567	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1		NM_031914		12	10	0	0	0	0.004007	0	12	10		
UNC79	57578	broad.mit.edu	37	14	94004365	94004365	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr14:94004365G>C	ENST00000393151.2	+	12	1153	c.1153G>C	c.(1153-1155)Gtc>Ctc	p.V385L	UNC79_ENST00000555664.1_Missense_Mutation_p.V385L|UNC79_ENST00000256339.4_Missense_Mutation_p.V208L|UNC79_ENST00000553484.1_Missense_Mutation_p.V385L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	385					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAGAGCAGTTGTCACCTGCTT	0.468																																						uc001ybv.1		NaN																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(622-624)GTC>CTC		hypothetical protein LOC57578							70.0	67.0	68.0					14																	94004365		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94004365G>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1153G>C	14.37:g.94004365G>C	ENSP00000376858:p.Val385Leu					KIAA1409_uc001ybs.1_Missense_Mutation_p.V208L|KIAA1409_uc001ybu.1_Missense_Mutation_p.V146L	p.V208L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	9	705	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	385					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.622G>C		.	.	.	.	.	.	.	.	.	.	G	29.8	5.033869	0.93575	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.41558	0.1164	L	0.46157	1.445	0.54753	D	0.99998	D;P	0.53312	0.959;0.902	D;D	0.67103	0.949;0.927	T	0.01899	-1.1251	10	0.40728	T	0.16	-21.1044	19.9698	0.97280	0.0:0.0:1.0:0.0	.	385;385	C9JQL1;Q9P2D8	.;UNC79_HUMAN	L	208;385;385;385;385	ENSP00000256339:V208L;ENSP00000450868:V385L;ENSP00000451360:V385L;ENSP00000376858:V385L	ENSP00000256339:V208L	V	+	1	0	KIAA1409	93074118	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.537000	0.98070	2.786000	0.95864	0.561000	0.74099	GTC		0.468	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1		XM_028395		23	22	0	0	0	0.004656	0	23	22		
SHC4	399694	broad.mit.edu	37	15	49118194	49118194	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr15:49118194G>C	ENST00000332408.4	-	12	2295	c.1867C>G	c.(1867-1869)Cca>Gca	p.P623A	SHC4_ENST00000537958.1_Missense_Mutation_p.P337A|SHC4_ENST00000396535.3_Missense_Mutation_p.P380A	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	623					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		AAAAGTGCTGGATTATTATCT	0.373																																						uc001zxb.1		NaN																	0				ovary(3)|pancreas(2)	5						c.(1867-1869)CCA>GCA		rai-like protein							244.0	228.0	234.0					15																	49118194		2197	4295	6492	SO:0001583	missense	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49118194G>C	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1867C>G	15.37:g.49118194G>C	ENSP00000329668:p.Pro623Ala					SHC4_uc010uey.1_Missense_Mutation_p.P380A|SHC4_uc010uez.1_Missense_Mutation_p.P337A	p.P623A	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	12	2296	-		all_lung(180;0.00466)	623					Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.1867C>G	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	G	3.098	-0.185428	0.06340	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	T;T;T	0.29142	3.58;1.58;1.6	5.37	0.9	0.19278	.	0.824797	0.11026	N	0.607826	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.001	T	0.26916	-1.0089	10	0.30854	T	0.27	-23.3916	4.8228	0.13400	0.0788:0.1079:0.5026:0.3107	.	380;623	Q6S5L8-2;Q6S5L8	.;SHC4_HUMAN	A	623;380;337	ENSP00000329668:P623A;ENSP00000379786:P380A;ENSP00000443300:P337A	ENSP00000329668:P623A	P	-	1	0	SHC4	46905486	0.008000	0.16893	0.013000	0.15412	0.087000	0.18053	-0.199000	0.09491	0.362000	0.24319	0.650000	0.86243	CCA		0.373	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1		NM_203349		47	127	0	0	0	0.01441	0	47	127		
PSTPIP1	9051	broad.mit.edu	37	15	77323595	77323595	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr15:77323595C>T	ENST00000558012.1	+	10	1206	c.717C>T	c.(715-717)tcC>tcT	p.S239S	PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000379595.3_Silent_p.S239S|PSTPIP1_ENST00000267939.5_Silent_p.S238S|PSTPIP1_ENST00000559295.1_Silent_p.S239S	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	239					cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						ACCAGCTCTCCATGCAGTGTG	0.617																																						uc002bcf.2		NaN																	0				ovary(1)	1						c.(715-717)TCC>TCT		proline-serine-threonine phosphatase interacting							121.0	130.0	127.0					15																	77323595		2113	4237	6350	SO:0001819	synonymous_variant	9051				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity	g.chr15:77323595C>T	U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"""CD2 cytoplasmic tail-binding protein"", ""CD2 antigen-binding protein 1"", ""PEST phosphatase-interacting protein 1"""	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.717C>T	15.37:g.77323595C>T						PSTPIP1_uc010bkt.1_RNA|PSTPIP1_uc010umo.1_Silent_p.S117S|PSTPIP1_uc010bku.1_Silent_p.S230S|PSTPIP1_uc002bcg.2_Silent_p.S239S|PSTPIP1_uc010bkw.1_Silent_p.S239S|PSTPIP1_uc002bch.1_5'UTR|PSTPIP1_uc002bci.1_5'Flank	p.S239S	NM_003978	NP_003969	O43586	PPIP1_HUMAN			10	1167	+			239					B5BU74|B5BUK4|O43585|O95657	Silent	SNP	ENST00000558012.1	37	c.717C>T	CCDS45312.1																																																																																				0.617	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419373.2		NM_003978		65	100	0	0	0	0.01441	0	65	100		
LRRK1	79705	broad.mit.edu	37	15	101595287	101595287	+	Silent	SNP	T	T	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr15:101595287T>A	ENST00000388948.3	+	27	4550	c.4191T>A	c.(4189-4191)ctT>ctA	p.L1397L	LRRK1_ENST00000284395.5_Silent_p.L1394L|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTGGTCCCTTGACGTCAAGG	0.532																																						uc002bwr.2		NaN																	0				ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(4189-4191)CTT>CTA		leucine-rich repeat kinase 1							137.0	135.0	136.0					15																	101595287		2058	4191	6249	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101595287T>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4191T>A	15.37:g.101595287T>A						LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	p.L1397L	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		27	4510	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1397			Protein kinase.			Silent	SNP	ENST00000388948.3	37	c.4191T>A	CCDS42086.1																																																																																				0.532	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2		NM_024652		22	59	0	0	0	0.007291	0	22	59		
ZNF205	7755	broad.mit.edu	37	16	3168975	3168975	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr16:3168975G>T	ENST00000382192.3	+	6	759	c.554G>T	c.(553-555)cGg>cTg	p.R185L	RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R185L|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	185	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GGCTCCAGCCGGCAGGCAGGA	0.667																																						uc002cub.2		NaN																	0					0						c.(553-555)CGG>CTG		zinc finger protein 205							56.0	67.0	64.0					16																	3168975		2197	4300	6497	SO:0001583	missense	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3168975G>T	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.554G>T	16.37:g.3168975G>T	ENSP00000371627:p.Arg185Leu					ZNF205_uc002cua.2_Missense_Mutation_p.R185L	p.R185L	NM_001042428	NP_001035893	O95201	ZN205_HUMAN			6	689	+			185			KRAB.		A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	ENST00000382192.3	37	c.554G>T	CCDS10494.2	.	.	.	.	.	.	.	.	.	.	G	8.105	0.777434	0.16120	.	.	ENSG00000122386	ENST00000382192;ENST00000219091;ENST00000414351	T;T;T	0.08193	3.16;3.16;3.12	4.63	-5.3	0.02738	Krueppel-associated box (1);	2.278970	0.02323	N	0.073127	T	0.06917	0.0176	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34750	-0.9816	10	0.27082	T	0.32	-3.8097	0.5835	0.00715	0.4019:0.1341:0.1924:0.2716	.	185	O95201	ZN205_HUMAN	L	185	ENSP00000371627:R185L;ENSP00000219091:R185L;ENSP00000403306:R185L	ENSP00000219091:R185L	R	+	2	0	ZNF205	3108976	0.000000	0.05858	0.000000	0.03702	0.429000	0.31625	-3.519000	0.00444	-0.805000	0.04404	-0.367000	0.07326	CGG		0.667	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1		NM_003456		31	62	1	0	3.09479e-21	0.006999	3.91008e-21	31	62		
ANKS3	124401	broad.mit.edu	37	16	4764077	4764077	+	Silent	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr16:4764077C>G	ENST00000304283.4	-	7	978	c.684G>C	c.(682-684)ctG>ctC	p.L228L	ANKS3_ENST00000585773.1_Silent_p.L155L|ANKS3_ENST00000450067.2_Silent_p.L22L|ANKS3_ENST00000446014.2_Silent_p.L99L	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	228										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GGCTCTTGGGCAGAGAGGGCG	0.607																																						uc002cxj.1		NaN																	0					0						c.(682-684)CTG>CTC		ankyrin repeat and sterile alpha motif domain							133.0	96.0	109.0					16																	4764077		2197	4300	6497	SO:0001819	synonymous_variant	124401							g.chr16:4764077C>G	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.684G>C	16.37:g.4764077C>G						ANKS3_uc002cxi.1_Silent_p.L155L|ANKS3_uc002cxk.2_Silent_p.L99L|ANKS3_uc002cxl.2_Silent_p.L55L|ANKS3_uc010uxs.1_Silent_p.L155L|ANKS3_uc002cxm.2_Silent_p.L22L	p.L228L	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN			7	979	-			228					B4DWU4|D3DUE2|Q8TF25	Silent	SNP	ENST00000304283.4	37	c.684G>C	CCDS10520.1																																																																																				0.607	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3		NM_133450		18	36	0	0	0	0.007413	0	18	36		
RBBP6	5930	broad.mit.edu	37	16	24582981	24582981	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr16:24582981A>G	ENST00000319715.4	+	18	5026	c.4594A>G	c.(4594-4596)Agt>Ggt	p.S1532G	RBBP6_ENST00000381039.3_Missense_Mutation_p.S692G|RBBP6_ENST00000348022.2_Missense_Mutation_p.S1498G	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1532	Interaction with p53. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTCCAAAAAAAGTAATTCTAG	0.373																																						uc002dmh.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(4594-4596)AGT>GGT		retinoblastoma-binding protein 6 isoform 1							39.0	38.0	39.0					16																	24582981		2197	4297	6494	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24582981A>G		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4594A>G	16.37:g.24582981A>G	ENSP00000317872:p.Ser1532Gly					RBBP6_uc002dmi.2_Missense_Mutation_p.S1498G|RBBP6_uc010bxr.2_Missense_Mutation_p.S692G|RBBP6_uc002dmk.2_Missense_Mutation_p.S1365G	p.S1532G	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	18	5634	+			1532			Interaction with p53 (By similarity).		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.4594A>G	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	A	7.104	0.574694	0.13623	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.19806	2.12;2.4;2.4	6.03	3.75	0.43078	.	0.166960	0.50627	D	0.000104	T	0.11367	0.0277	N	0.12746	0.255	0.27069	N	0.963368	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.15178	-1.0446	10	0.46703	T	0.11	-7.4963	8.7086	0.34369	0.7859:0.0:0.2141:0.0	.	692;1498;1532	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	G	692;1532;1498	ENSP00000370427:S692G;ENSP00000317872:S1532G;ENSP00000316291:S1498G	ENSP00000317872:S1532G	S	+	1	0	RBBP6	24490482	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.704000	0.54815	1.083000	0.41159	0.455000	0.32223	AGT		0.373	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2		NM_006910		3	14	0	0	0	0.009096	0	3	14		
ATXN2L	11273	broad.mit.edu	37	16	28834730	28834730	+	Silent	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr16:28834730G>T	ENST00000336783.4	+	1	317	c.150G>T	c.(148-150)ggG>ggT	p.G50G	ATXN2L_ENST00000340394.8_Silent_p.G50G|ATXN2L_ENST00000382686.4_Silent_p.G50G|ATXN2L_ENST00000395547.2_Silent_p.G50G|ATXN2L_ENST00000564304.1_Silent_p.G50G|ATXN2L_ENST00000570200.1_Silent_p.G50G|RP11-1348G14.5_ENST00000568183.1_RNA|ATXN2L_ENST00000325215.6_Silent_p.G50G	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	50	Pro-rich.				regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTCCTCCCGGGCCTCCAGCGG	0.821																																						uc002drc.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(148-150)GGG>GGT		ataxin 2 related protein isoform A							2.0	3.0	3.0					16																	28834730		871	2113	2984	SO:0001819	synonymous_variant	11273					membrane		g.chr16:28834730G>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.150G>T	16.37:g.28834730G>T						uc010vct.1_Intron|ATXN2L_uc010byl.1_Silent_p.G50G|ATXN2L_uc002drb.2_Silent_p.G50G|ATXN2L_uc002dqy.2_Silent_p.G50G|ATXN2L_uc002dra.2_Silent_p.G50G|ATXN2L_uc002dqz.2_Silent_p.G50G|ATXN2L_uc010vdb.1_Silent_p.G50G|ATXN2L_uc002dre.2_Silent_p.G50G	p.G50G	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN			1	318	+			50			Pro-rich.		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	ENST00000336783.4	37	c.150G>T	CCDS10641.1																																																																																				0.821	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1		NM_007245		2	2	1	0	0.00909568	0.009096	0.00925318	2	2		
CPNE2	221184	broad.mit.edu	37	16	57157339	57157339	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr16:57157339A>G	ENST00000535318.2	+	11	1242	c.881A>G	c.(880-882)tAc>tGc	p.Y294C	CPNE2_ENST00000537605.1_Missense_Mutation_p.Y192C|CPNE2_ENST00000565874.1_Missense_Mutation_p.Y294C|CPNE2_ENST00000290776.8_Missense_Mutation_p.Y294C			Q96FN4	CPNE2_HUMAN	copine II	294						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				AACCGAGACTACTCCTTCCTT	0.577																																						uc002eks.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(880-882)TAC>TGC		copine II							158.0	135.0	142.0					16																	57157339		2198	4300	6498	SO:0001583	missense	221184							g.chr16:57157339A>G		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.881A>G	16.37:g.57157339A>G	ENSP00000439018:p.Tyr294Cys					CPNE2_uc010cct.1_Missense_Mutation_p.Y320C|CPNE2_uc010ccu.1_Missense_Mutation_p.Y294C|CPNE2_uc002ekt.1_5'Flank	p.Y294C	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN			10	1110	+		all_neural(199;0.224)	294					Q68D19|Q719H8|Q86XP9	Missense_Mutation	SNP	ENST00000535318.2	37	c.881A>G	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	A	4.212	0.038186	0.08148	.	.	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	T;T;T	0.09073	3.43;3.02;3.43	5.27	5.27	0.74061	.	0.070737	0.64402	D	0.000016	T	0.19967	0.0480	M	0.76328	2.33	0.48762	D	0.999704	D;D	0.61697	0.99;0.97	P;P	0.54401	0.751;0.664	T	0.00844	-1.1543	10	0.40728	T	0.16	-22.6439	11.0642	0.47966	0.8529:0.0:0.0:0.1471	.	294;294	A8K8A4;Q96FN4	.;CPNE2_HUMAN	C	294;192;294	ENSP00000290776:Y294C;ENSP00000445468:Y192C;ENSP00000439018:Y294C	ENSP00000290776:Y294C	Y	+	2	0	CPNE2	55714840	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	6.067000	0.71193	1.988000	0.58038	0.459000	0.35465	TAC		0.577	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2		NM_152727		63	72	0	0	0	0.01441	0	63	72		
FAM96B	51647	broad.mit.edu	37	16	66969416	66969416	+	5'Flank	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr16:66969416C>G	ENST00000422424.2	-	0	0				CES2_ENST00000317091.4_Missense_Mutation_p.P24A|CES2_ENST00000417689.1_Missense_Mutation_p.P24A	NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN	family with sequence similarity 96, member B						chromosome segregation (GO:0007059)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)				kidney(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CCCGCTGACTCCCTGCCCAGT	0.662																																						uc002eqr.2		NaN																	0					0						c.(70-72)CCC>GCC		carboxylesterase 2 isoform 1							75.0	85.0	81.0					16																	66969416		2200	4300	6500	SO:0001631	upstream_gene_variant	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66969416C>G		CCDS45506.1	16q22.1	2014-01-16			ENSG00000166595	ENSG00000166595			24261	protein-coding gene	gene with protein product		614778				11042152, 10810093, 23891004	Standard	NM_016062		Approved	CGI-128	uc021tjy.2	Q9Y3D0	OTTHUMG00000175408		16.37:g.66969416C>G	Exception_encountered					CES2_uc002eqq.2_Missense_Mutation_p.P24A|CES2_uc002eqs.2_5'UTR|FAM96B_uc002eqp.2_5'Flank	p.P24A	NM_003869	NP_003860	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	1	1070	+		Ovarian(137;0.0563)	Error:Variant_position_missing_in_O00748_after_alignment						Missense_Mutation	SNP	ENST00000422424.2	37	c.70C>G	CCDS45506.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129749	0.56721	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.65178	-0.14;-0.14	4.36	1.31	0.21738	.	.	.	.	.	T	0.40694	0.1127	N	0.14661	0.345	0.09310	N	1	B	0.16603	0.018	B	0.16722	0.016	T	0.33752	-0.9856	9	0.87932	D	0	.	4.1105	0.10057	0.1863:0.6292:0.0:0.1845	.	24	A8K367	.	A	24	ENSP00000394452:P24A;ENSP00000317842:P24A	ENSP00000317842:P24A	P	+	1	0	CES2	65526917	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.516000	0.06282	0.335000	0.23614	0.655000	0.94253	CCC		0.662	FAM96B-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429890.1		NM_016062		46	165	0	0	0	0.01441	0	46	165		
ATMIN	23300	broad.mit.edu	37	16	81076953	81076953	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr16:81076953C>G	ENST00000299575.4	+	4	874	c.850C>G	c.(850-852)Ctt>Gtt	p.L284V	ATMIN_ENST00000564241.1_Missense_Mutation_p.L128V|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Missense_Mutation_p.L128V	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	284	Required for formation of RAD51 foci.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CAAGCAGACTCTTACAACACC	0.433																																						uc002ffz.1		NaN																	0					0						c.(850-852)CTT>GTT		ATM interactor							122.0	121.0	122.0					16																	81076953		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81076953C>G	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.850C>G	16.37:g.81076953C>G	ENSP00000299575:p.Leu284Val					ATMIN_uc002fga.2_Missense_Mutation_p.L126V|ATMIN_uc010vnn.1_Missense_Mutation_p.L55V|ATMIN_uc002fgb.1_Missense_Mutation_p.L126V	p.L284V	NM_015251	NP_056066	O43313	ATMIN_HUMAN			4	868	+			284			Required for formation of RAD51 foci.		A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.850C>G	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	C	1.361	-0.588676	0.03799	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.02837	4.14	6.17	3.15	0.36227	.	0.480009	0.19717	N	0.107666	T	0.03305	0.0096	L	0.56769	1.78	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.46289	-0.9202	10	0.16420	T	0.52	-3.2036	5.9474	0.19227	0.1256:0.635:0.1634:0.076	.	284	O43313	ATMIN_HUMAN	V	284;55	ENSP00000299575:L284V	ENSP00000299575:L284V	L	+	1	0	ATMIN	79634454	0.002000	0.14202	0.002000	0.10522	0.040000	0.13550	0.260000	0.18424	0.454000	0.26884	0.655000	0.94253	CTT		0.433	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1		NM_015251		33	59	0	0	0	0.003271	0	33	59		
CDH13	1012	broad.mit.edu	37	16	82891976	82891976	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr16:82891976C>T	ENST00000566620.1	+	2	345	c.55C>T	c.(55-57)Cta>Tta	p.L19L	CDH13_ENST00000268613.10_Silent_p.L66L|CDH13_ENST00000567445.1_Silent_p.L19L|CDH13_ENST00000428848.3_Silent_p.L19L|CDH13_ENST00000565636.1_Silent_p.L19L|CDH13_ENST00000431540.3_Silent_p.L19L|CDH13_ENST00000446376.2_Silent_p.L19L	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	19					adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GGTGCTGCTGCTAACATCTGC	0.418																																						uc002fgx.2		NaN																	0				large_intestine(1)	1						c.(55-57)CTA>TTA		cadherin 13 preproprotein							89.0	82.0	84.0					16																	82891976		1871	4107	5978	SO:0001819	synonymous_variant	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:82891976C>T	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.55C>T	16.37:g.82891976C>T						CDH13_uc010chh.2_Silent_p.L19L|CDH13_uc010vns.1_Silent_p.L66L|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Silent_p.L19L	p.L19L	NM_001257	NP_001248	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	2	175	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	19					A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	c.55C>T	CCDS58486.1																																																																																				0.418	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1		NM_001257		35	28	0	0	0	0.004878	0	35	28		
BANP	54971	broad.mit.edu	37	16	88008777	88008777	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr16:88008777G>C	ENST00000393207.1	+	2	277	c.56G>C	c.(55-57)aGc>aCc	p.S19T	BANP_ENST00000355022.4_Missense_Mutation_p.S19T|BANP_ENST00000479780.2_Missense_Mutation_p.S19T|BANP_ENST00000286122.7_Missense_Mutation_p.S19T|BANP_ENST00000355163.5_Missense_Mutation_p.S19T|BANP_ENST00000393208.2_Missense_Mutation_p.S19T|BANP_ENST00000538234.1_Missense_Mutation_p.S19T	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	19					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GAAGACCTGAGCCCTGACCAC	0.473																																						uc002fkr.2		NaN																	0					0						c.(52-54)AGC>ACC		BTG3 associated nuclear protein isoform b							103.0	90.0	94.0					16																	88008777		2198	4300	6498	SO:0001583	missense	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88008777G>C	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.56G>C	16.37:g.88008777G>C	ENSP00000376902:p.Ser19Thr					BANP_uc002fkp.2_Missense_Mutation_p.S19T|BANP_uc002fkq.2_Missense_Mutation_p.S19T|BANP_uc010vow.1_Missense_Mutation_p.S18T|BANP_uc002fks.3_Missense_Mutation_p.S18T|BANP_uc002fko.1_Intron|BANP_uc010vov.1_Missense_Mutation_p.S18T	p.S18T	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	2	277	+			19					A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	ENST00000393207.1	37	c.53G>C	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.344774	0.24426	.	.	ENSG00000172530	ENST00000423252;ENST00000439677;ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000412691;ENST00000355022;ENST00000436970;ENST00000538234;ENST00000436274;ENST00000456902;ENST00000393207	T;T;T;T;T;T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.03	3.97	0.46021	.	0.201578	0.50627	D	0.000116	T	0.24812	0.0602	N	0.03608	-0.345	0.29377	N	0.863612	B;B;B;D;B;B	0.56287	0.0;0.001;0.0;0.975;0.0;0.004	B;B;B;D;B;B	0.66196	0.0;0.004;0.0;0.942;0.001;0.009	T	0.27020	-1.0086	10	0.13470	T	0.59	.	3.415	0.07372	0.2298:0.2765:0.4937:0.0	.	19;19;19;19;19;19	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	T	19	ENSP00000401718:S19T;ENSP00000411479:S19T;ENSP00000286122:S19T;ENSP00000347290:S19T;ENSP00000432508:S19T;ENSP00000376903:S19T;ENSP00000390504:S19T;ENSP00000347125:S19T;ENSP00000399576:S19T;ENSP00000444352:S19T;ENSP00000401454:S19T;ENSP00000410089:S19T;ENSP00000376902:S19T	ENSP00000286122:S19T	S	+	2	0	BANP	86566278	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	2.842000	0.48230	2.343000	0.79666	0.551000	0.68910	AGC		0.473	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1		NM_017869		26	50	0	0	0	0.003271	0	26	50		
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)CGG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	p.R248Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		34	17	0	0	0	0.006999	0	34	17		
CHD3	1107	broad.mit.edu	37	17	7802505	7802505	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr17:7802505C>T	ENST00000330494.7	+	14	2478	c.2328C>T	c.(2326-2328)taC>taT	p.Y776Y	CHD3_ENST00000358181.4_Silent_p.Y776Y|CHD3_ENST00000380358.4_Silent_p.Y835Y	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	776	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCTTCCTCTACTCACTCTACA	0.567																																						uc002gje.2		NaN																	0				breast(1)	1						c.(2326-2328)TAC>TAT		chromodomain helicase DNA binding protein 3							104.0	98.0	100.0					17																	7802505		2203	4300	6503	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7802505C>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2328C>T	17.37:g.7802505C>T						CHD3_uc002gjd.2_Silent_p.Y835Y|CHD3_uc002gjf.2_Silent_p.Y776Y	p.Y776Y	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			14	2478	+		Prostate(122;0.202)	776			Helicase ATP-binding.		D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.2328C>T	CCDS32554.1																																																																																				0.567	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1		NM_001005273		58	18	0	0	0	0.01441	0	58	18		
ADPRM	56985	broad.mit.edu	37	17	10608309	10608309	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr17:10608309C>T	ENST00000379774.4	+	2	157	c.66C>T	c.(64-66)gtC>gtT	p.V22V	ADPRM_ENST00000609540.1_Silent_p.V22V	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	22							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										CCTTTGGCGTCATCGCAGATG	0.423																																						uc002gmt.2		NaN																	0					0						c.(64-66)GTC>GTT		ADP-ribose/CDP-alcohol pyrophosphatase							132.0	130.0	131.0					17																	10608309		2203	4300	6503	SO:0001819	synonymous_variant	56985						ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding	g.chr17:10608309C>T	BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 48"""	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.66C>T	17.37:g.10608309C>T						C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Silent_p.V22V	p.V22V	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN			2	141	+			22					A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Silent	SNP	ENST00000379774.4	37	c.66C>T	CCDS11159.2																																																																																				0.423	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2		NM_020233		8	48	0	0	0	0.004482	0	8	48		
SSH2	85464	broad.mit.edu	37	17	27959241	27959241	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr17:27959241G>T	ENST00000269033.3	-	15	3041	c.2890C>A	c.(2890-2892)Cac>Aac	p.H964N	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.H991N	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	964					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTGGCAAGTGGTCAAACTCC	0.547																																						uc002heo.1		NaN																	0				skin(2)	2						c.(2890-2892)CAC>AAC		slingshot 2							82.0	79.0	80.0					17																	27959241		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959241G>T	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2890C>A	17.37:g.27959241G>T	ENSP00000269033:p.His964Asn					SSH2_uc010wbh.1_Missense_Mutation_p.H991N	p.H964N	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			15	2890	-			964					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.2890C>A	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	0.061	-1.222899	0.01530	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.08546	3.08;3.08	5.17	1.99	0.26369	.	1.521390	0.03565	N	0.227633	T	0.05090	0.0136	N	0.08118	0	0.09310	N	0.999999	B;B	0.11235	0.004;0.002	B;B	0.15870	0.014;0.006	T	0.38329	-0.9666	10	0.29301	T	0.29	0.014	4.7586	0.13097	0.3006:0.0:0.5584:0.141	.	991;964	F5H527;Q76I76	.;SSH2_HUMAN	N	964;991	ENSP00000269033:H964N;ENSP00000444743:H991N	ENSP00000269033:H964N	H	-	1	0	SSH2	24983367	0.092000	0.21681	0.001000	0.08648	0.007000	0.05969	0.815000	0.27253	0.177000	0.19895	-0.136000	0.14681	CAC		0.547	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1		NM_033389		23	19	1	0	1.64293e-13	0.00333	1.94015e-13	23	19		
LRRC37B	114659	broad.mit.edu	37	17	30348423	30348423	+	Silent	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr17:30348423G>C	ENST00000341671.7	+	1	263	c.258G>C	c.(256-258)ctG>ctC	p.L86L	LRRC37B_ENST00000327564.7_Silent_p.L113L|LRRC37B_ENST00000584368.1_Silent_p.L98L|LRRC37B_ENST00000394713.3_Silent_p.L86L|LRRC37B_ENST00000543378.2_Silent_p.L4L	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	86						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TGTCAGCCCTGCCTCAGGAAC	0.592																																						uc002hgu.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(256-258)CTG>CTC		leucine rich repeat containing 37B precursor							52.0	60.0	57.0					17																	30348423		2198	4300	6498	SO:0001819	synonymous_variant	114659					integral to membrane		g.chr17:30348423G>C	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.258G>C	17.37:g.30348423G>C						LRRC37B_uc010wbx.1_Silent_p.L4L|LRRC37B_uc010csu.2_Silent_p.L86L	p.L86L	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN			1	269	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	86			Extracellular (Potential).		Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	37	c.258G>C	CCDS32609.1																																																																																				0.592	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1		NM_052888		16	57	0	0	0	0.004007	0	16	57		
SLC35G3	146861	broad.mit.edu	37	17	33520917	33520917	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr17:33520917G>T	ENST00000297307.5	-	1	495	c.410C>A	c.(409-411)tCt>tAt	p.S137Y	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	137	EamA 1.					integral component of membrane (GO:0016021)											GACGGTGGAAGAACCTTTGCG	0.587																																						uc002hjd.2		NaN																	0					0						c.(409-411)TCT>TAT		acyl-malonyl condensing enzyme 1							150.0	142.0	145.0					17																	33520917		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520917G>T	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.410C>A	17.37:g.33520917G>T	ENSP00000297307:p.Ser137Tyr						p.S137Y	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	496	-			137			DUF6 1.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.410C>A	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147351	0.37923	.	.	ENSG00000164729	ENST00000297307	T	0.52295	0.67	.	.	.	.	0.000000	0.47093	D	0.000257	T	0.48150	0.1484	L	0.27053	0.805	0.34162	D	0.668802	D	0.76494	0.999	D	0.87578	0.998	T	0.57021	-0.7882	9	0.87932	D	0	-5.8936	5.844	0.18652	9.0E-4:0.0:0.9991:0.0	.	137	Q8N808	S35G3_HUMAN	Y	137	ENSP00000297307:S137Y	ENSP00000297307:S137Y	S	-	2	0	SLC35G3	30545030	1.000000	0.71417	0.306000	0.25113	0.308000	0.27856	4.343000	0.59348	0.064000	0.16427	0.064000	0.15345	TCT		0.587	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2		NM_152462		32	136	1	0	1.48734e-19	0.013114	1.82997e-19	32	136		
MAP3K14	9020	broad.mit.edu	37	17	43351496	43351496	+	RNA	SNP	C	C	G	rs367938510	byFrequency	TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr17:43351496C>G	ENST00000344686.2	-	0	1651							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTACCTTTGACGTCCCCATGC	0.617																																						uc002iiw.1		NaN																	0				central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						c.(1546-1548)GTC>CTC		mitogen-activated protein kinase kinase kinase							42.0	44.0	44.0					17																	43351496		1972	4148	6120			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43351496C>G	Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6853	protein-coding gene	gene with protein product	"""serine/threonine protein-kinase"""	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43351496C>G						MAP3K14_uc002iiu.1_5'Flank|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Missense_Mutation_p.V100L	p.V516L	NM_003954	NP_003945	Q99558	M3K14_HUMAN			9	1655	-			516			Interaction with ZFP91.|Protein kinase.		A8K2D8|D3DX67|Q8IYN1	Missense_Mutation	SNP	ENST00000344686.2	37	c.1546G>C		.	.	.	.	.	.	.	.	.	.	C	14.94	2.686534	0.47991	.	.	ENSG00000006062	ENST00000344686;ENST00000376926	.	.	.	6.04	2.95	0.34219	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.462264	0.22903	N	0.054221	T	0.31513	0.0799	N	0.17723	0.515	0.26639	N	0.972329	B	0.20164	0.042	B	0.22601	0.04	T	0.31998	-0.9923	8	0.56958	D	0.05	.	8.8201	0.35020	0.0:0.7633:0.0:0.2367	.	516	Q99558	M3K14_HUMAN	L	515;299	.	ENSP00000342059:V515L	V	-	1	0	MAP3K14	40707279	0.994000	0.37717	0.971000	0.41717	0.957000	0.61999	1.457000	0.35212	0.419000	0.25927	0.561000	0.74099	GTC		0.617	MAP3K14-201	KNOWN	basic	processed_transcript	processed_transcript			NM_003954		3	3	0	0	0	0.009096	0	3	3		
ATP5G1	516	broad.mit.edu	37	17	46971758	46971758	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr17:46971758A>G	ENST00000393366.2	+	3	167	c.64A>G	c.(64-66)Atc>Gtc	p.I22V	ATP5G1_ENST00000506855.1_Intron|ATP5G1_ENST00000355938.5_Missense_Mutation_p.I22V|ATP5G1_ENST00000513781.1_3'UTR|RP11-463M16.4_ENST00000508743.1_RNA|ATP5G1_ENST00000503641.1_Missense_Mutation_p.I22V|ATP5G1_ENST00000514808.1_Missense_Mutation_p.I22V	NM_005175.2	NP_005166.1	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)	22					ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			liver(1)|lung(1)	2						CAGGGGTCTAATCAGGCCTGT	0.443																																						uc002iog.2		NaN																	0					0						c.(64-66)ATC>GTC		ATP synthase, H+ transporting, mitochondrial F0							192.0	193.0	193.0					17																	46971758		2203	4300	6503	SO:0001583	missense	516				ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding	g.chr17:46971758A>G	D13118	CCDS11539.1	17q21.32	2012-10-12	2010-06-11		ENSG00000159199	ENSG00000159199		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	841	protein-coding gene	gene with protein product		603192	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 1"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9)"""	ATP5G		8328972	Standard	NM_005175		Approved		uc002ioh.3	P05496	OTTHUMG00000160520	ENST00000393366.2:c.64A>G	17.37:g.46971758A>G	ENSP00000377033:p.Ile22Val					ATP5G1_uc002ioh.2_Missense_Mutation_p.I22V	p.I22V	NM_005175	NP_005166	P05496	AT5G1_HUMAN			3	198	+			22						Missense_Mutation	SNP	ENST00000393366.2	37	c.64A>G	CCDS11539.1	.	.	.	.	.	.	.	.	.	.	A	7.794	0.712258	0.15306	.	.	ENSG00000159199	ENST00000355938;ENST00000503641;ENST00000514808;ENST00000393366	T;T;T;T	0.29397	2.01;1.98;1.57;2.01	4.11	0.328	0.15918	.	0.328145	0.32593	N	0.005892	T	0.18923	0.0454	L	0.50333	1.59	0.09310	N	0.99999	B	0.06786	0.001	B	0.06405	0.002	T	0.12941	-1.0528	10	0.22109	T	0.4	-18.2963	1.0451	0.01568	0.3713:0.3173:0.1569:0.1546	.	22	P05496	AT5G1_HUMAN	V	22	ENSP00000348205:I22V;ENSP00000426094:I22V;ENSP00000422086:I22V;ENSP00000377033:I22V	ENSP00000348205:I22V	I	+	1	0	ATP5G1	44326757	0.000000	0.05858	0.833000	0.33012	0.996000	0.88848	-0.323000	0.07997	0.134000	0.18681	0.459000	0.35465	ATC		0.443	ATP5G1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360948.2		NM_005175		50	125	0	0	0	0.01441	0	50	125		
MFSD11	79157	broad.mit.edu	37	17	74740413	74740413	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr17:74740413G>C	ENST00000588460.1	+	7	2548	c.506G>C	c.(505-507)cGa>cCa	p.R169P	MFSD11_ENST00000355954.3_Missense_Mutation_p.R117P|MFSD11_ENST00000590514.1_Missense_Mutation_p.R169P|MFSD11_ENST00000593181.1_Missense_Mutation_p.R117P|MFSD11_ENST00000586622.1_Missense_Mutation_p.R169P|MFSD11_ENST00000336509.4_Missense_Mutation_p.R169P	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	169						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						GAGAGTGACCGAAGAACAGTG	0.413																																						uc002jta.2		NaN																	0				ovary(1)	1						c.(505-507)CGA>CCA		major facilitator superfamily domain containing							176.0	153.0	161.0					17																	74740413		2203	4300	6503	SO:0001583	missense	79157					integral to membrane		g.chr17:74740413G>C	BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.506G>C	17.37:g.74740413G>C	ENSP00000464932:p.Arg169Pro					MFSD11_uc002jtb.2_Missense_Mutation_p.R169P|MFSD11_uc010dha.2_Missense_Mutation_p.R117P|MFSD11_uc002jtc.2_Missense_Mutation_p.R169P|MFSD11_uc002jtd.3_Missense_Mutation_p.R169P|MFSD11_uc010dhb.2_Missense_Mutation_p.R117P|MFSD11_uc002jte.2_Missense_Mutation_p.R169P	p.R169P	NM_024311	NP_077287	O43934	MFS11_HUMAN			8	1479	+			169					O43442|Q9NXI5	Missense_Mutation	SNP	ENST00000588460.1	37	c.506G>C	CCDS11750.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736021	0.89482	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	T;T	0.80393	-1.37;-1.37	5.41	5.41	0.78517	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.91280	0.7251	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.91141	0.4945	10	0.48119	T	0.1	-11.3815	19.571	0.95419	0.0:0.0:1.0:0.0	.	117;169	O43934-2;O43934	.;MFS11_HUMAN	P	169;117	ENSP00000337240:R169P;ENSP00000348225:R117P	ENSP00000337240:R169P	R	+	2	0	MFSD11	72252008	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.727000	0.84838	2.709000	0.92574	0.655000	0.94253	CGA		0.413	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1		NM_024311		25	48	0	0	0	0.004289	0	25	48		
TSPAN10	83882	broad.mit.edu	37	17	79612041	79612041	+	RNA	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr17:79612041C>T	ENST00000572675.1	+	0	60				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AGAAGCCCCTCTCTGTGCACA	0.647																																						uc010die.2		NaN																	0				ovary(1)	1						c.(58-60)CTC>CTT		tetraspanin 10							29.0	34.0	32.0					17																	79612041		1986	4168	6154			83882					integral to membrane		g.chr17:79612041C>T	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"""Tetraspanins"""	29942	protein-coding gene	gene with protein product	"""oculospanin"""					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612041C>T						TSPAN10_uc002kaw.1_Silent_p.L20L|TSPAN10_uc010did.1_RNA	p.L20L	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		2	150	+	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		20					Q8N548	Silent	SNP	ENST00000572675.1	37	c.60C>T																																																																																					0.647	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000440313.1		NM_031945		10	28	0	0	0	0.013537	0	10	28		
NDC80	10403	broad.mit.edu	37	18	2575029	2575029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr18:2575029C>T	ENST00000261597.4	+	3	325	c.143C>T	c.(142-144)cCg>cTg	p.P48L		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	48	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						ATAAACAAACCGACATCTGAA	0.303																																						uc002kli.2		NaN																	0				ovary(1)	1						c.(142-144)CCG>CTG		kinetochore associated 2							46.0	43.0	44.0					18																	2575029		2201	4299	6500	SO:0001583	missense	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2575029C>T	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.143C>T	18.37:g.2575029C>T	ENSP00000261597:p.Pro48Leu						p.P48L	NM_006101	NP_006092	O14777	NDC80_HUMAN			3	325	+			48			Interaction with the N-terminus of CDCA1.|Nuclear localization.		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	c.143C>T	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	C	9.436	1.086696	0.20390	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.26373	1.74	5.41	3.52	0.40303	.	0.157702	0.56097	D	0.000021	T	0.19046	0.0457	L	0.55481	1.735	0.09310	N	0.999997	P	0.44006	0.824	B	0.35114	0.196	T	0.21518	-1.0243	10	0.41790	T	0.15	-3.0966	7.4482	0.27223	0.1261:0.6815:0.1223:0.0701	.	48	O14777	NDC80_HUMAN	L	48	ENSP00000261597:P48L	ENSP00000261597:P48L	P	+	2	0	NDC80	2565029	0.596000	0.26866	0.234000	0.24042	0.337000	0.28794	1.802000	0.38853	2.538000	0.85594	0.650000	0.86243	CCG		0.303	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1		NM_006101		10	12	0	0	0	0.004007	0	10	12		
RNF152	220441	broad.mit.edu	37	18	59483323	59483323	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr18:59483323C>G	ENST00000312828.3	-	2	1473	c.374G>C	c.(373-375)aGc>aCc	p.S125T		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	125					apoptotic process (GO:0006915)|protein K48-linked ubiquitination (GO:0070936)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CTTCTGCTGGCTCCCGGGCAG	0.662																																						uc002lih.1		NaN																	0				breast(1)	1						c.(373-375)AGC>ACC		ring finger protein 152							51.0	55.0	54.0					18																	59483323		2203	4300	6503	SO:0001583	missense	220441				apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:59483323C>G	AK096495	CCDS11978.1	18q21.33	2013-01-09			ENSG00000176641	ENSG00000176641		"""RING-type (C3HC4) zinc fingers"""	26811	protein-coding gene	gene with protein product							Standard	XM_005266650		Approved	FLJ39176	uc002lih.1	Q8N8N0	OTTHUMG00000132774	ENST00000312828.3:c.374G>C	18.37:g.59483323C>G	ENSP00000316628:p.Ser125Thr						p.S125T	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN			2	786	-		Colorectal(73;0.186)	125					B3KV99|Q52LA4	Missense_Mutation	SNP	ENST00000312828.3	37	c.374G>C	CCDS11978.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285061	0.40394	.	.	ENSG00000176641	ENST00000312828	D	0.83419	-1.72	4.97	4.08	0.47627	.	0.326309	0.36034	N	0.002823	T	0.66809	0.2827	N	0.14661	0.345	0.34086	D	0.660172	B	0.15141	0.012	B	0.06405	0.002	T	0.66752	-0.5844	10	0.22706	T	0.39	2.3213	10.1252	0.42646	0.0:0.8469:0.0:0.1531	.	125	Q8N8N0	RN152_HUMAN	T	125	ENSP00000316628:S125T	ENSP00000316628:S125T	S	-	2	0	RNF152	57634303	0.702000	0.27816	1.000000	0.80357	0.997000	0.91878	1.133000	0.31430	2.600000	0.87896	0.655000	0.94253	AGC		0.662	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256180.1		NM_173557		19	7	0	0	0	0.00333	0	19	7		
MLLT1	4298	broad.mit.edu	37	19	6230639	6230639	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:6230639T>C	ENST00000252674.7	-	4	525	c.362A>G	c.(361-363)aAg>aGg	p.K121R		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	121					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GAAGGTGAGCTTCTCGCAGCG	0.647			T	MLL	AL																																	uc002mek.2		NaN		Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				skin(1)	1						c.(361-363)AAG>AGG		myeloid/lymphoid or mixed-lineage leukemia							152.0	149.0	150.0					19																	6230639		2203	4300	6503	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6230639T>C		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.362A>G	19.37:g.6230639T>C	ENSP00000252674:p.Lys121Arg						p.K121R	NM_005934	NP_005925	Q03111	ENL_HUMAN			4	526	-			121					Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.362A>G	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.548567	0.86127	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.66742	0.2820	M	0.71581	2.175	0.58432	D	0.999996	B	0.33904	0.431	B	0.41332	0.354	T	0.71388	-0.4608	9	0.72032	D	0.01	-33.397	13.1576	0.59527	0.0:0.0:0.0:1.0	.	121	Q03111	ENL_HUMAN	R	121	.	ENSP00000252674:K121R	K	-	2	0	MLLT1	6181639	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.727000	0.84838	1.966000	0.57179	0.533000	0.62120	AAG		0.647	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1		NM_005934		83	31	0	0	0	0.01441	0	83	31		
CNN1	1264	broad.mit.edu	37	19	11660487	11660487	+	Silent	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:11660487C>A	ENST00000252456.2	+	7	982	c.771C>A	c.(769-771)ggC>ggA	p.G257G	CNN1_ENST00000544952.1_Silent_p.G237G|CNN1_ENST00000535659.2_Silent_p.G207G|CNN1_ENST00000592923.1_Silent_p.G207G	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	257					actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						CGCAGCGGGGCATGACGGTGT	0.652																																						uc002msc.1		NaN																	0					0						c.(769-771)GGC>GGA		calponin 1, basic, smooth muscle							63.0	58.0	59.0					19																	11660487		2203	4300	6503	SO:0001819	synonymous_variant	1264				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding	g.chr19:11660487C>A	U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.771C>A	19.37:g.11660487C>A						CNN1_uc010xmb.1_Silent_p.G207G|CNN1_uc010xmc.1_Silent_p.G207G	p.G257G	NM_001299	NP_001290	P51911	CNN1_HUMAN			7	935	+			257			Calponin-like 3.		B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Silent	SNP	ENST00000252456.2	37	c.771C>A	CCDS12263.1																																																																																				0.652	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458854.1		NM_001299		28	9	1	0	7.76418e-22	0.005443	9.91621e-22	28	9		
MED26	9441	broad.mit.edu	37	19	16686879	16686879	+	Missense_Mutation	SNP	C	C	T	rs577661611		TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:16686879C>T	ENST00000263390.3	-	3	2024	c.1762G>A	c.(1762-1764)Gac>Aac	p.D588N	CTC-429P9.4_ENST00000593962.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Intron	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	588					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						AAGCGCCCGTCGTCGCCGTGC	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16687	0.0		0.0	False		,,,				2504	0.0					uc002nen.1		NaN																	0				ovary(2)	2						c.(1762-1764)GAC>AAC		mediator complex subunit 26							66.0	61.0	63.0					19																	16686879		2203	4300	6503	SO:0001583	missense	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16686879C>T	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.1762G>A	19.37:g.16686879C>T	ENSP00000263390:p.Asp588Asn					MED26_uc002nee.2_Intron	p.D588N	NM_004831	NP_004822	O95402	MED26_HUMAN			3	2023	-			588					A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	c.1762G>A	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833407	0.50951	.	.	ENSG00000105085	ENST00000263390	T	0.49139	0.79	5.28	5.28	0.74379	.	0.051445	0.85682	D	0.000000	T	0.59595	0.2205	M	0.62723	1.935	0.43226	D	0.995118	D	0.67145	0.996	P	0.53006	0.715	T	0.64706	-0.6344	10	0.87932	D	0	-25.7083	17.8803	0.88838	0.0:1.0:0.0:0.0	.	588	O95402	MED26_HUMAN	N	588	ENSP00000263390:D588N	ENSP00000263390:D588N	D	-	1	0	MED26	16547879	1.000000	0.71417	0.993000	0.49108	0.063000	0.16089	5.647000	0.67923	2.464000	0.83262	0.591000	0.81541	GAC		0.612	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1		NM_004831		45	6	0	0	0	0.01441	0	45	6		
GMIP	51291	broad.mit.edu	37	19	19740837	19740837	+	Missense_Mutation	SNP	C	C	T	rs373620612		TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:19740837C>T	ENST00000203556.4	-	21	2985	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	LPAR2_ENST00000542587.1_5'Flank|LPAR2_ENST00000589311.1_5'Flank|GMIP_ENST00000445806.2_Missense_Mutation_p.E921K|LPAR2_ENST00000586703.1_5'Flank|LPAR2_ENST00000407877.3_5'Flank|GMIP_ENST00000587238.1_Missense_Mutation_p.E924K	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	950					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGCACAGCCTCGCTGTCCAAT	0.637																																						uc002nnd.2		NaN																	0				ovary(1)	1						c.(2848-2850)GAG>AAG		GEM interacting protein		C	LYS/GLU	0,4402		0,0,2201	17.0	17.0	17.0		2848	3.0	0.0	19		17	1,8599		0,1,4299	no	missense	GMIP	NM_016573.2	56	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	950/971	19740837	1,13001	2201	4300	6501	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19740837C>T	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.2848G>A	19.37:g.19740837C>T	ENSP00000203556:p.Glu950Lys					LPAR2_uc002nnb.3_5'Flank|LPAR2_uc002nna.3_5'Flank|LPAR2_uc002nnc.3_5'Flank|GMIP_uc010xrb.1_Missense_Mutation_p.E924K|GMIP_uc010xrc.1_Missense_Mutation_p.E921K	p.E950K	NM_016573	NP_057657	Q9P107	GMIP_HUMAN			21	2965	-			950					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.2848G>A	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835574	0.71373	0.0	1.16E-4	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.22336	1.96;1.96	5.11	2.99	0.34606	.	0.153629	0.30235	N	0.010084	T	0.14356	0.0347	L	0.29908	0.895	0.09310	N	1	B;B;B	0.15719	0.014;0.014;0.014	B;B;B	0.08055	0.003;0.003;0.003	T	0.19386	-1.0307	10	0.66056	D	0.02	-8.3175	7.6916	0.28571	0.0:0.8069:0.0:0.1931	.	921;924;950	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	K	950;921	ENSP00000203556:E950K;ENSP00000397075:E921K	ENSP00000203556:E950K	E	-	1	0	GMIP	19601837	0.014000	0.17966	0.005000	0.12908	0.944000	0.59088	0.873000	0.28052	0.559000	0.29153	0.561000	0.74099	GAG		0.637	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1		NM_016573		2	1	0	0	0	0.004672	0	2	1		
ZNF536	9745	broad.mit.edu	37	19	31039827	31039827	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:31039827G>A	ENST00000355537.3	+	4	3448	c.3301G>A	c.(3301-3303)Gac>Aac	p.D1101N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1101					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGGCCACGTGGACCCTGCATT	0.542																																						uc002nsu.1		NaN																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(3301-3303)GAC>AAC		zinc finger protein 536							88.0	100.0	96.0					19																	31039827		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039827G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3301G>A	19.37:g.31039827G>A	ENSP00000347730:p.Asp1101Asn					ZNF536_uc010edd.1_Missense_Mutation_p.D1101N	p.D1101N	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3439	+	Esophageal squamous(110;0.0834)		1101					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.3301G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939008	0.34189	.	.	ENSG00000198597	ENST00000355537	T	0.12569	2.67	5.63	5.63	0.86233	.	0.098040	0.64402	D	0.000002	T	0.16685	0.0401	L	0.32530	0.975	0.50632	D	0.999884	P;P	0.50066	0.931;0.682	B;B	0.44224	0.444;0.205	T	0.00583	-1.1659	10	0.72032	D	0.01	-47.3535	19.6626	0.95878	0.0:0.0:1.0:0.0	.	1101;1101	A7E228;O15090	.;ZN536_HUMAN	N	1101	ENSP00000347730:D1101N	ENSP00000347730:D1101N	D	+	1	0	ZNF536	35731667	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	6.111000	0.71541	2.638000	0.89438	0.655000	0.94253	GAC		0.542	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2		NM_014717		21	41	0	0	0	0.004656	0	21	41		
ZNF302	55900	broad.mit.edu	37	19	35175840	35175840	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:35175840C>G	ENST00000446502.2	+	6	1238	c.1030C>G	c.(1030-1032)Ctc>Gtc	p.L344V	ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000505242.1_Missense_Mutation_p.L300V|ZNF302_ENST00000457781.2_Missense_Mutation_p.L300V|ZNF302_ENST00000423823.2_Missense_Mutation_p.L300V			Q9NR11	ZN302_HUMAN	zinc finger protein 302	379					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)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGTGTCCCTTCTCATTCAGCA	0.423																																						uc002nvr.1		NaN																	0					0						c.(1030-1032)CTC>GTC		zinc finger protein 302							75.0	75.0	75.0					19																	35175840		2202	4300	6502	SO:0001583	missense	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35175840C>G	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.1030C>G	19.37:g.35175840C>G	ENSP00000396379:p.Leu344Val					ZNF302_uc002nvp.1_Missense_Mutation_p.L300V|ZNF302_uc002nvq.1_Missense_Mutation_p.L300V|ZNF302_uc002nvs.1_Missense_Mutation_p.L300V	p.L344V	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		6	1293	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		379			C2H2-type 4.		Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	ENST00000446502.2	37	c.1030C>G		.	.	.	.	.	.	.	.	.	.	C	8.619	0.891046	0.17613	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000423823;ENST00000446502	T;T;T;T	0.14766	2.7;2.7;2.7;2.48	0.967	0.967	0.19674	.	.	.	.	.	T	0.33000	0.0848	M	0.78285	2.405	0.09310	N	1	D;D	0.76494	0.962;0.999	D;D	0.74023	0.975;0.982	T	0.04333	-1.0959	9	0.66056	D	0.02	.	7.7985	0.29160	0.0:1.0:0.0:0.0	.	344;300	E7EVR1;Q9NR11-2	.;.	V	300;300;300;344	ENSP00000391067:L300V;ENSP00000421028:L300V;ENSP00000405219:L300V;ENSP00000396379:L344V	ENSP00000405219:L300V	L	+	1	0	ZNF302	39867680	0.007000	0.16637	0.995000	0.50966	0.249000	0.25844	0.318000	0.19504	0.822000	0.34565	0.467000	0.42956	CTC		0.423	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1				12	50	0	0	0	0.00245	0	12	50		
ZNF420	147923	broad.mit.edu	37	19	37619520	37619520	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:37619520G>A	ENST00000337995.3	+	5	1842	c.1627G>A	c.(1627-1629)Ggc>Agc	p.G543S	ZNF420_ENST00000304239.7_Intron|ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000586540.1_3'UTR	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTTGCGCGTGGCTTACTACT	0.413																																						uc002ofl.2		NaN																	0					0						c.(1627-1629)GGC>AGC		zinc finger protein 420							87.0	87.0	87.0					19																	37619520		2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37619520G>A	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1627G>A	19.37:g.37619520G>A	ENSP00000338770:p.Gly543Ser						p.G543S	NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1842	+			543			C2H2-type 15.		B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.1627G>A	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	G	3.452	-0.111831	0.06881	.	.	ENSG00000197050	ENST00000337995	T	0.07114	3.22	4.35	-0.655	0.11439	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01222	0.0040	N	0.00068	-2.29	0.09310	N	1	B	0.26708	0.157	B	0.20767	0.031	T	0.45145	-0.9281	8	.	.	.	.	5.1713	0.15112	0.2307:0.3196:0.4498:0.0	.	543	Q8TAQ5	ZN420_HUMAN	S	543	ENSP00000338770:G543S	.	G	+	1	0	ZNF420	42311360	0.000000	0.05858	0.000000	0.03702	0.982000	0.71751	-1.646000	0.01998	0.098000	0.17522	0.655000	0.94253	GGC		0.413	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3		NM_144689		28	54	0	0	0	0.00632	0	28	54		
PLEKHG2	64857	broad.mit.edu	37	19	39913486	39913486	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:39913486G>A	ENST00000409794.3	+	18	2642	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	PLEKHG2_ENST00000425673.1_Missense_Mutation_p.E569K|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.E539K	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	598	Poly-Glu.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGAGGAGGAGGAAGAGGAAGG	0.602																																						uc010xuz.1		NaN																	0				skin(2)|pancreas(1)|breast(1)	4						c.(1792-1794)GAA>AAA		common-site lymphoma/leukemia guanine nucleotide							49.0	47.0	48.0					19																	39913486		2203	4300	6503	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39913486G>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1792G>A	19.37:g.39913486G>A	ENSP00000386733:p.Glu598Lys					PLEKHG2_uc010xuy.1_Missense_Mutation_p.E539K|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.E376K	p.E598K	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		18	2117	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		598			Poly-Glu.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.1792G>A	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980670	0.74474	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000458508	T;T;T	0.74842	-0.73;-0.78;-0.88	5.06	5.06	0.68205	.	0.000000	0.43416	D	0.000567	T	0.78780	0.4337	L	0.29908	0.895	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.993	D;D;D	0.77557	0.99;0.971;0.978	T	0.81055	-0.1106	10	0.72032	D	0.01	.	13.9306	0.63994	0.0:0.0:1.0:0.0	.	569;598;539	Q9H7P9-3;Q9H7P9;E7ESZ3	.;PKHG2_HUMAN;.	K	598;569;539	ENSP00000386733:E598K;ENSP00000392906:E569K;ENSP00000408857:E539K	ENSP00000386733:E598K	E	+	1	0	PLEKHG2	44605326	1.000000	0.71417	0.978000	0.43139	0.430000	0.31655	3.633000	0.54295	2.348000	0.79779	0.205000	0.17691	GAA		0.602	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1		NM_022835		5	12	0	0	0	0.000602	0	5	12		
ZNF780A	284323	broad.mit.edu	37	19	40580973	40580973	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:40580973T>C	ENST00000595687.2	-	6	1585	c.1376A>G	c.(1375-1377)cAa>cGa	p.Q459R	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q460R|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q459R|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q460R|ZNF780A_ENST00000450241.2_Missense_Mutation_p.Q425R	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTCAATAAGTTGGCAATGATA	0.403																																						uc002omy.2		NaN																	0					0						c.(1375-1377)CAA>CGA		zinc finger protein 780A isoform b							155.0	148.0	151.0					19																	40580973		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580973T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1376A>G	19.37:g.40580973T>C	ENSP00000472189:p.Gln459Arg					ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.Q459R|ZNF780A_uc010xvh.1_Missense_Mutation_p.Q460R	p.Q459R	NM_001010880	NP_001010880	O75290	Z780A_HUMAN			6	1601	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		459			C2H2-type 11.		E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1376A>G	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	T	0.584	-0.835698	0.02713	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.21543	2.0;2.0	1.93	-0.367	0.12541	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12220	0.0297	N	0.21240	0.645	0.09310	N	1	P;B	0.40398	0.716;0.165	B;B	0.40659	0.336;0.182	T	0.24835	-1.0149	9	0.23302	T	0.38	.	5.2128	0.15327	0.0:0.3568:0.0:0.6432	.	460;459	E9PB48;O75290	.;Z780A_HUMAN	R	459;460;459	ENSP00000400997:Q460R;ENSP00000341507:Q459R	ENSP00000341507:Q459R	Q	-	2	0	ZNF780A	45272813	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.497000	0.02289	0.020000	0.15106	0.260000	0.18958	CAA		0.403	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1		NM_001010880		68	104	0	0	0	0.01441	0	68	104		
PLD3	23646	broad.mit.edu	37	19	40882622	40882622	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:40882622G>C	ENST00000409587.1	+	11	1523	c.1126G>C	c.(1126-1128)Gcc>Ccc	p.A376P	PLD3_ENST00000409735.4_Missense_Mutation_p.A376P|PLD3_ENST00000409419.1_Missense_Mutation_p.A376P|PLD3_ENST00000409281.1_Missense_Mutation_p.A376P|PLD3_ENST00000356508.5_Missense_Mutation_p.A376P			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	376					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			ATCCATGCGGGCCTTCCTGCT	0.652																																						uc002onm.3		NaN																	0				skin(2)|ovary(1)	3						c.(1126-1128)GCC>CCC		phospholipase D3							60.0	55.0	56.0					19																	40882622		2203	4300	6503	SO:0001583	missense	23646				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40882622G>C	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.1126G>C	19.37:g.40882622G>C	ENSP00000387050:p.Ala376Pro					PLD3_uc002onj.3_Missense_Mutation_p.A376P|PLD3_uc002onk.3_Missense_Mutation_p.A376P|PLD3_uc002onl.3_Missense_Mutation_p.A376P|PLD3_uc002onn.2_Missense_Mutation_p.A376P	p.A376P	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		11	1524	+			376			Lumenal (Potential).		Q92853|Q9BW87	Missense_Mutation	SNP	ENST00000409587.1	37	c.1126G>C	CCDS33027.1	.	.	.	.	.	.	.	.	.	.	g	6.812	0.518901	0.13005	.	.	ENSG00000105223	ENST00000409419;ENST00000409587;ENST00000356508;ENST00000536031;ENST00000409735;ENST00000409281	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.52	0.397	0.16314	Phospholipase D/viral envelope (1);	0.257190	0.39475	N	0.001341	T	0.12178	0.0296	N	0.01431	-0.87	0.28244	N	0.925561	B	0.02656	0.0	B	0.04013	0.001	T	0.14755	-1.0461	10	0.23302	T	0.38	-19.3297	3.4404	0.07461	0.0948:0.277:0.4436:0.1846	.	376	Q8IV08	PLD3_HUMAN	P	376;376;376;357;376;376	ENSP00000386293:A376P;ENSP00000387050:A376P;ENSP00000348901:A376P;ENSP00000386938:A376P;ENSP00000387022:A376P	ENSP00000348901:A376P	A	+	1	0	PLD3	45574462	0.056000	0.20664	0.997000	0.53966	0.777000	0.43975	0.496000	0.22499	0.342000	0.23796	0.306000	0.20318	GCC		0.652	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1		NM_012268		43	53	0	0	0	0.01441	0	43	53		
LIPE	3991	broad.mit.edu	37	19	42911490	42911490	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:42911490T>A	ENST00000244289.4	-	6	2249	c.1973A>T	c.(1972-1974)cAg>cTg	p.Q658L	LIPE-AS1_ENST00000599276.1_RNA|LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	658					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCTGGAGGTCTGGGCCACAAA	0.687																																						uc002otr.2		NaN																	0				ovary(1)|breast(1)	2						c.(1972-1974)CAG>CTG		hormone-sensitive lipase							29.0	29.0	29.0					19																	42911490		2202	4298	6500	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42911490T>A	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1973A>T	19.37:g.42911490T>A	ENSP00000244289:p.Gln658Leu					uc010eif.1_Intron	p.Q658L	NM_005357	NP_005348	Q05469	LIPS_HUMAN			6	2250	-		Prostate(69;0.00682)	658					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.1973A>T	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.242055	0.58995	.	.	ENSG00000079435	ENST00000244289	T	0.08807	3.05	4.07	4.07	0.47477	Alpha/beta hydrolase fold-3 (1);	0.236633	0.34802	N	0.003670	T	0.22044	0.0531	L	0.52905	1.665	0.49130	D	0.999758	D	0.64830	0.994	D	0.76575	0.988	T	0.00523	-1.1690	10	0.45353	T	0.12	-5.9589	12.4432	0.55637	0.0:0.0:0.0:1.0	.	658	Q05469	LIPS_HUMAN	L	658	ENSP00000244289:Q658L	ENSP00000244289:Q658L	Q	-	2	0	LIPE	47603330	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.117000	0.50407	1.865000	0.54081	0.459000	0.35465	CAG		0.687	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1		NM_005357		6	5	0	0	0	0.001984	0	6	5		
KCNN4	3783	broad.mit.edu	37	19	44284956	44284956	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:44284956C>T	ENST00000262888.3	-	1	453	c.58G>A	c.(58-60)Gag>Aag	p.E20K		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	20					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	TTCTCCTGCTCCAGCAAGCGC	0.662																																						uc002oxl.2		NaN																	0				ovary(2)	2						c.(58-60)GAG>AAG		intermediate conductance calcium-activated	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						122.0	111.0	115.0					19																	44284956		2203	4300	6503	SO:0001583	missense	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44284956C>T	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.58G>A	19.37:g.44284956C>T	ENSP00000262888:p.Glu20Lys					KCNN4_uc010eja.1_RNA	p.E20K	NM_002250	NP_002241	O15554	KCNN4_HUMAN			1	454	-		Prostate(69;0.0352)	20					Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	37	c.58G>A	CCDS12630.1	.	.	.	.	.	.	.	.	.	.	c	19.93	3.917810	0.73098	.	.	ENSG00000104783	ENST00000262888	D	0.99872	-7.37	4.2	4.2	0.49525	Potassium channel, calcium-activated, SK, conserved region (1);	0.095761	0.38436	U	0.001689	D	0.99515	0.9827	M	0.72479	2.2	0.44862	D	0.99787	P	0.42735	0.788	P	0.44394	0.448	D	0.97978	1.0347	10	0.49607	T	0.09	-21.4624	12.1163	0.53868	0.0:1.0:0.0:0.0	.	20	O15554	KCNN4_HUMAN	K	20	ENSP00000262888:E20K	ENSP00000262888:E20K	E	-	1	0	KCNN4	48976796	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	2.348000	0.44045	1.916000	0.55485	0.537000	0.68136	GAG		0.662	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1		NM_002250		53	83	0	0	0	0.01441	0	53	83		
DHX34	9704	broad.mit.edu	37	19	47876898	47876898	+	Missense_Mutation	SNP	C	C	T	rs141177029	byFrequency	TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:47876898C>T	ENST00000328771.4	+	9	2354	c.2005C>T	c.(2005-2007)Cgc>Tgc	p.R669C		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	669					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GTGGTGCCGCCGCCGGGGCAT	0.657													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17950	0.001		0.0	False		,,,				2504	0.0					uc010xyn.1		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)	5						c.(2005-2007)CGC>TGC		DEAH (Asp-Glu-Ala-His) box polypeptide 34		C	CYS/ARG	5,4399	8.1+/-20.4	0,5,2197	63.0	58.0	59.0		2005	5.0	1.0	19	dbSNP_134	59	0,8600		0,0,4300	yes	missense	DHX34	NM_014681.5	180	0,5,6497	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging	669/1144	47876898	5,12999	2202	4300	6502	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47876898C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2005C>T	19.37:g.47876898C>T	ENSP00000331907:p.Arg669Cys						p.R669C	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	9	2346	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	669					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.2005C>T	CCDS12700.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	23.7	4.444956	0.83993	0.001135	0.0	ENSG00000134815	ENST00000328771	T	0.03272	3.99	5.01	5.01	0.66863	.	0.184300	0.37304	N	0.002151	T	0.12347	0.0300	L	0.59436	1.845	0.58432	D	0.999997	D	0.71674	0.998	P	0.56612	0.802	T	0.00435	-1.1741	10	0.87932	D	0	-18.5849	17.0766	0.86588	0.0:1.0:0.0:0.0	.	669	Q14147	DHX34_HUMAN	C	669	ENSP00000331907:R669C	ENSP00000331907:R669C	R	+	1	0	DHX34	52568698	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.013000	0.57138	2.328000	0.79073	0.561000	0.74099	CGC		0.657	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3		NM_014681		17	30	0	0	0	0.003954	0	17	30		
MYBPC2	4606	broad.mit.edu	37	19	50961863	50961863	+	Silent	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:50961863C>G	ENST00000357701.5	+	21	2409	c.2358C>G	c.(2356-2358)gcC>gcG	p.A786A		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	786	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GGGTCCCTGCCAACACCGAGC	0.657																																						uc002psf.2		NaN																	0				breast(1)	1						c.(2356-2358)GCC>GCG		myosin binding protein C, fast type							28.0	35.0	33.0					19																	50961863		2004	4178	6182	SO:0001819	synonymous_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50961863C>G		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2358C>G	19.37:g.50961863C>G							p.A786A	NM_004533	NP_004524	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	21	2409	+		all_neural(266;0.057)	786			Fibronectin type-III 2.		A1L4G9	Silent	SNP	ENST00000357701.5	37	c.2358C>G	CCDS46152.1																																																																																				0.657	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1		NM_004533		14	34	0	0	0	0.00499	0	14	34		
BIRC8	112401	broad.mit.edu	37	19	53793189	53793189	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:53793189C>G	ENST00000426466.1	-	1	1686	c.439G>C	c.(439-441)Gag>Cag	p.E147Q		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	147					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		ACAAGAACCTCAAGCGTTTTA	0.398																																						uc002qbk.2		NaN																	0				lung(1)	1						c.(439-441)GAG>CAG		baculoviral IAP repeat-containing 8							118.0	121.0	120.0					19																	53793189		2203	4300	6503	SO:0001583	missense	112401				apoptosis		zinc ion binding	g.chr19:53793189C>G	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.439G>C	19.37:g.53793189C>G	ENSP00000412957:p.Glu147Gln						p.E147Q	NM_033341	NP_203127	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	1	1687	-			147					Q6IPY1|Q96RW5	Missense_Mutation	SNP	ENST00000426466.1	37	c.439G>C	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277693	0.23307	.	.	ENSG00000163098	ENST00000426466	T	0.36157	1.27	0.502	0.502	0.16932	.	.	.	.	.	T	0.45856	0.1363	M	0.62723	1.935	0.23238	N	0.998063	D	0.69078	0.997	D	0.66084	0.941	T	0.29397	-1.0013	9	0.27785	T	0.31	-4.5162	3.6066	0.08045	0.4382:0.5617:1.0E-4:0.0	.	147	Q96P09	BIRC8_HUMAN	Q	147	ENSP00000412957:E147Q	ENSP00000412957:E147Q	E	-	1	0	BIRC8	58485001	0.042000	0.20092	0.039000	0.18376	0.027000	0.11550	0.358000	0.20216	0.578000	0.29487	0.420000	0.28162	GAG		0.398	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1		NM_033341		31	70	0	0	0	0.004289	0	31	70		
ZNF331	55422	broad.mit.edu	37	19	54080062	54080062	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:54080062G>T	ENST00000253144.9	+	7	1581	c.248G>T	c.(247-249)tGg>tTg	p.W83L	ZNF331_ENST00000513999.1_Missense_Mutation_p.W83L|ZNF331_ENST00000511593.2_Missense_Mutation_p.W83L|ZNF331_ENST00000411977.2_Missense_Mutation_p.W83L|ZNF331_ENST00000513265.1_Missense_Mutation_p.W83L|ZNF331_ENST00000511154.1_Missense_Mutation_p.W83L|ZNF331_ENST00000512387.1_Missense_Mutation_p.W83L|ZNF331_ENST00000449416.1_Missense_Mutation_p.W83L	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	83					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GGCCGTAACTGGATATGTGAA	0.398			T	?	follicular thyroid adenoma																																	uc002qbx.1		NaN		Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	NaN		follicular thyroid adenoma		0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6						c.(247-249)TGG>TTG		zinc finger protein 331							72.0	74.0	74.0					19																	54080062		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54080062G>T	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.248G>T	19.37:g.54080062G>T	ENSP00000253144:p.Trp83Leu					ZNF331_uc002qby.1_Missense_Mutation_p.W83L|ZNF331_uc002qbz.1_Missense_Mutation_p.W83L|ZNF331_uc002qca.1_Missense_Mutation_p.W83L|ZNF331_uc010eqr.1_Missense_Mutation_p.W83L|ZNF331_uc002qcb.1_Missense_Mutation_p.W83L|ZNF331_uc002qcc.1_Missense_Mutation_p.W83L|ZNF331_uc002qcd.1_Missense_Mutation_p.W83L	p.W83L	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	1682	+			83					Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.248G>T	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	G	6.130	0.392170	0.11581	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000514374;ENST00000411977;ENST00000511154;ENST00000509047;ENST00000513999;ENST00000512387;ENST00000511567;ENST00000514022;ENST00000505949;ENST00000513265;ENST00000502616	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.08458	3.31;3.31;3.31;5.14;3.31;3.31;5.14;3.31;3.31;5.16;3.35;3.09;5.14;5.02	3.31	3.31	0.37934	.	0.626077	0.12302	N	0.480991	T	0.06690	0.0171	L	0.33339	1.005	0.09310	N	1	B	0.26400	0.148	B	0.15052	0.012	T	0.28681	-1.0036	10	0.23302	T	0.38	.	10.249	0.43358	0.0:0.0:1.0:0.0	.	83	Q9NQX6	ZN331_HUMAN	L	83	ENSP00000253144:W83L;ENSP00000427439:W83L;ENSP00000393817:W83L;ENSP00000424835:W83L;ENSP00000393336:W83L;ENSP00000421014:W83L;ENSP00000423263:W83L;ENSP00000423156:W83L;ENSP00000421728:W83L;ENSP00000426127:W83L;ENSP00000422471:W83L;ENSP00000427532:W83L;ENSP00000426458:W83L;ENSP00000422586:W83L	ENSP00000253144:W83L	W	+	2	0	ZNF331	58771874	0.000000	0.05858	0.262000	0.24481	0.360000	0.29518	-0.041000	0.12084	1.864000	0.54056	0.467000	0.42956	TGG		0.398	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1		NM_018555		10	51	1	0	3.86212e-05	0.008291	4.05178e-05	10	51		
LILRB1	10859	broad.mit.edu	37	19	55148021	55148021	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:55148021C>T	ENST00000396331.1	+	15	2081	c.1724C>T	c.(1723-1725)gCc>gTc	p.A575V	LILRB1_ENST00000396315.1_Missense_Mutation_p.A577V|LILRB1_ENST00000427581.2_Missense_Mutation_p.A626V|LILRB1_ENST00000418536.2_Missense_Mutation_p.A559V|LILRB1_ENST00000434867.2_Missense_Mutation_p.A575V|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396327.3_Missense_Mutation_p.A576V|LILRB1_ENST00000396332.4_Missense_Mutation_p.A576V|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.A575V|LILRB1_ENST00000396317.1_Missense_Mutation_p.A559V|LILRB1_ENST00000324602.7_Missense_Mutation_p.A577V|AC009892.10_ENST00000456337.1_Intron	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	575					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGAGAAATGGCCTCTCCTCCT	0.582										HNSCC(37;0.09)																												uc002qgj.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1723-1725)GCC>GTC		leukocyte immunoglobulin-like receptor,							111.0	96.0	101.0					19																	55148021		2201	4299	6500	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55148021C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1724C>T	19.37:g.55148021C>T	ENSP00000379622:p.Ala575Val	HNSCC(37;0.09)				LILRB1_uc010erp.1_3'UTR|LILRB1_uc002qgl.2_Missense_Mutation_p.A576V|LILRB1_uc002qgk.2_Missense_Mutation_p.A576V|LILRB1_uc002qgm.2_Missense_Mutation_p.A577V|LILRB1_uc010erq.2_Missense_Mutation_p.A559V|LILRB1_uc010err.2_RNA	p.A575V	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	15	2064	+			575			Cytoplasmic (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1724C>T	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450607	0.43531	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T	0.00504	7.0;7.02;7.0;6.98;7.0;7.0;7.0;6.94;7.02;7.0	1.59	1.59	0.23543	.	.	.	.	.	T	0.01558	0.0050	M	0.84846	2.72	0.09310	N	1	P;D;D;D;D	0.89917	0.881;1.0;0.968;0.993;0.991	B;D;B;D;P	0.85130	0.397;0.997;0.4;0.91;0.846	T	0.44711	-0.9310	9	0.40728	T	0.16	.	6.6902	0.23167	0.0:1.0:0.0:0.0	.	559;577;576;576;575	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	V	575;559;575;576;577;575;576;626;559;577	ENSP00000379614:A575V;ENSP00000391514:A559V;ENSP00000379622:A575V;ENSP00000379618:A576V;ENSP00000315997:A577V;ENSP00000405243:A575V;ENSP00000379623:A576V;ENSP00000395004:A626V;ENSP00000379610:A559V;ENSP00000379608:A577V	ENSP00000315997:A577V	A	+	2	0	LILRB1	59839833	0.000000	0.05858	0.002000	0.10522	0.180000	0.23129	0.042000	0.13949	1.241000	0.43820	0.194000	0.17425	GCC		0.582	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4				28	31	0	0	0	0.010818	0	28	31		
NLRP8	126205	broad.mit.edu	37	19	56482062	56482062	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:56482062C>T	ENST00000291971.3	+	6	2605	c.2534C>T	c.(2533-2535)tCg>tTg	p.S845L	NLRP8_ENST00000590542.1_Splice_Site_p.S845L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	845					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S845L(2)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGAGGCTGTCGTAAGTCTCC	0.473																																						uc002qmh.2		NaN																	2	Substitution - Missense(2)		large_intestine(2)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2533-2535)TCG>TTG		NLR family, pyrin domain containing 8							102.0	110.0	107.0					19																	56482062		2203	4300	6503	SO:0001630	splice_region_variant	126205					cytoplasm	ATP binding	g.chr19:56482062C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2534+1C>T	19.37:g.56482062C>T						NLRP8_uc010etg.2_Missense_Mutation_p.S845L	p.S845L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	6	2605	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	845			LRR 3.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2534C>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	5.355	0.250720	0.10130	.	.	ENSG00000179709	ENST00000291971	T	0.53640	0.61	1.8	-0.41	0.12374	.	.	.	.	.	T	0.17577	0.0422	N	0.10707	0.03	0.09310	N	1	B;B	0.28419	0.211;0.027	B;B	0.21546	0.035;0.009	T	0.24048	-1.0171	9	0.02654	T	1	.	3.9952	0.09554	0.0:0.5822:0.0:0.4178	.	845;845	Q86W28-2;Q86W28	.;NALP8_HUMAN	L	845	ENSP00000291971:S845L	ENSP00000291971:S845L	S	+	2	0	NLRP8	61173874	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	-0.984000	0.03755	-0.047000	0.13423	0.411000	0.27672	TCG		0.473	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1		NM_176811	Missense_Mutation	66	94	0	0	0	0.01441	0	66	94		
ZNF324B	388569	broad.mit.edu	37	19	58965138	58965138	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:58965138G>A	ENST00000336614.4	+	2	177	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	ZNF324B_ENST00000545523.1_Missense_Mutation_p.A24T|ZNF324B_ENST00000594214.1_Missense_Mutation_p.A24T|ZNF324B_ENST00000391696.1_5'UTR	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		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)		AGCGCAGAGGGCCCTGTACCG	0.567																																						uc002qsv.1		NaN																	0				ovary(1)	1						c.(70-72)GCC>ACC		zinc finger protein 324B							134.0	96.0	109.0					19																	58965138		2203	4300	6503	SO:0001583	missense	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58965138G>A	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.70G>A	19.37:g.58965138G>A	ENSP00000337473:p.Ala24Thr					ZNF324B_uc002qsu.1_5'UTR|ZNF324B_uc010euq.1_Missense_Mutation_p.A24T	p.A24T	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	2	177	+		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)	24			KRAB.		B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	c.70G>A	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	G	5.524	0.281697	0.10458	.	.	ENSG00000249471	ENST00000336614;ENST00000545523	T;T	0.01584	4.75;4.75	2.99	1.9	0.25705	Krueppel-associated box (4);	0.207947	0.24262	N	0.040061	T	0.03011	0.0089	N	0.20401	0.57	0.58432	D	0.999995	D	0.69078	0.997	D	0.83275	0.996	T	0.62590	-0.6822	10	0.11182	T	0.66	.	8.017	0.30387	0.1311:0.0:0.8689:0.0	.	24	Q6AW86	Z324B_HUMAN	T	24	ENSP00000337473:A24T;ENSP00000438930:A24T	ENSP00000337473:A24T	A	+	1	0	ZNF324B	63656950	0.058000	0.20735	0.221000	0.23827	0.685000	0.39939	1.057000	0.30492	0.418000	0.25898	0.467000	0.42956	GCC		0.567	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1		NM_207395		39	58	0	0	0	0.01441	0	39	58		
ZBTB45	84878	broad.mit.edu	37	19	59028486	59028486	+	Silent	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:59028486T>C	ENST00000594051.1	-	2	1035	c.555A>G	c.(553-555)ccA>ccG	p.P185P	ZBTB45_ENST00000600990.1_Silent_p.P185P|ZBTB45_ENST00000354590.3_Silent_p.P185P			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	185	Pro-rich.				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(3)|lung(5)|urinary_tract(1)	11		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;0.0165)|Lung(386;0.18)		TGGCAGGTGTTGGGGGCGCTG	0.692											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	uc002qtd.2		NaN																	0					0						c.(553-555)CCA>CCG		zinc finger and BTB domain containing 45							51.0	59.0	57.0					19																	59028486		2202	4299	6501	SO:0001819	synonymous_variant	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028486T>C	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.555A>G	19.37:g.59028486T>C			OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_uc002qte.2_Silent_p.P185P|ZBTB45_uc002qtf.2_Silent_p.P185P	p.P185P	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	847	-		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)	185			Pro-rich.			Silent	SNP	ENST00000594051.1	37	c.555A>G	CCDS12984.1																																																																																				0.692	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1		NM_032792		31	36	0	0	0	0.013726	0	31	36		
TPO	7173	broad.mit.edu	37	2	1488451	1488451	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:1488451C>A	ENST00000345913.4	+	9	1513	c.1422C>A	c.(1420-1422)gaC>gaA	p.D474E	TPO_ENST00000349624.3_Missense_Mutation_p.D301E|TPO_ENST00000346956.3_Missense_Mutation_p.D474E|TPO_ENST00000382201.3_Missense_Mutation_p.D474E|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000329066.4_Missense_Mutation_p.D474E|TPO_ENST00000337415.3_Missense_Mutation_p.D474E|TPO_ENST00000382198.1_Missense_Mutation_p.D301E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	474					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AAGGCTATGACTCCACCGCCA	0.602																																						uc002qww.2		NaN																	0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(1420-1422)GAC>GAA		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						82.0	74.0	77.0					2																	1488451		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1488451C>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1422C>A	2.37:g.1488451C>A	ENSP00000318820:p.Asp474Glu					TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.D474E|TPO_uc002qwr.2_Missense_Mutation_p.D474E|TPO_uc002qwx.2_Missense_Mutation_p.D474E|TPO_uc010yio.1_Missense_Mutation_p.D301E|TPO_uc010yip.1_Missense_Mutation_p.D474E|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	p.D474E	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	9	1513	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	474			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1422C>A	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	12.96|12.96	2.093431|2.093431	0.36952|0.36952	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607|ENST00000446278	T;T;T;T;T;T;T;T;T|.	0.69175|.	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38|.	5.3|5.3	1.75|1.75	0.24633|0.24633	.|.	0.229367|.	0.52532|.	D|.	0.000079|.	T|T	0.64983|0.64983	0.2648|0.2648	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	P;D;P;D|.	0.63046|.	0.95;0.992;0.95;0.96|.	P;P;P;P|.	0.58780|.	0.716;0.845;0.628;0.814|.	T|T	0.60021|0.60021	-0.7344|-0.7344	10|5	0.62326|.	D|.	0.03|.	-27.6308|-27.6308	7.4779|7.4779	0.27387|0.27387	0.0:0.2968:0.0:0.7032|0.0:0.2968:0.0:0.7032	.|.	474;301;474;474|.	P07202-4;P07202-5;P07202-2;P07202|.	.;.;.;PERT_HUMAN|.	E|N	474;474;474;301;474;474;301;403;5|6	ENSP00000337263:D474E;ENSP00000318820:D474E;ENSP00000263886:D474E;ENSP00000332044:D301E;ENSP00000329869:D474E;ENSP00000371636:D474E;ENSP00000371633:D301E;ENSP00000405788:D403E;ENSP00000419461:D5E|.	ENSP00000329869:D474E|.	D|T	+|+	3|2	2|0	TPO|TPO	1467458|1467458	0.525000|0.525000	0.26290|0.26290	0.003000|0.003000	0.11579|0.11579	0.023000|0.023000	0.10783|0.10783	0.899000|0.899000	0.28417|0.28417	0.049000|0.049000	0.15920|0.15920	0.556000|0.556000	0.70494|0.70494	GAC|ACT		0.602	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2		NM_000547		28	32	1	0	7.26314e-15	0.007291	8.70836e-15	28	32		
MSGN1	343930	broad.mit.edu	37	2	17998252	17998252	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:17998252G>A	ENST00000281047.3	+	1	490	c.467G>A	c.(466-468)aGc>aAc	p.S156N		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	156	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCTGTCTACAGCCAGAGAGGC	0.587																																					Melanoma(127;325 1712 14802 40657 49130)	uc010yjt.1		NaN																	0				ovary(1)	1						c.(466-468)AGC>AAC		mesogenin 1							37.0	45.0	42.0					2																	17998252		2097	4223	6320	SO:0001583	missense	343930				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:17998252G>A		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.467G>A	2.37:g.17998252G>A	ENSP00000281047:p.Ser156Asn						p.S156N	NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN			1	467	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		156			Helix-loop-helix motif.			Missense_Mutation	SNP	ENST00000281047.3	37	c.467G>A	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372024	0.82573	.	.	ENSG00000151379	ENST00000281047	D	0.98044	-4.68	5.97	5.97	0.96955	Helix-loop-helix DNA-binding (5);	0.039159	0.85682	D	0.000000	D	0.97284	0.9112	L	0.37750	1.13	0.80722	D	1	D	0.57899	0.981	P	0.56514	0.8	D	0.95955	0.8957	10	0.25751	T	0.34	-7.8883	20.428	0.99075	0.0:0.0:1.0:0.0	.	156	A6NI15	MSGN1_HUMAN	N	156	ENSP00000281047:S156N	ENSP00000281047:S156N	S	+	2	0	MSGN1	17861733	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.456000	0.44997	2.837000	0.97791	0.655000	0.94253	AGC		0.587	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1		XM_292850		12	27	0	0	0	0.001855	0	12	27		
RHOB	388	broad.mit.edu	37	2	20647449	20647449	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:20647449C>T	ENST00000272233.4	+	1	615	c.223C>T	c.(223-225)Ccg>Tcg	p.P75S		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	75					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	GCTCTCCTACCCGGACACCGA	0.647																																						uc002rdv.2		NaN																	0				ovary(1)|lung(1)	2						c.(223-225)CCG>TCG		ras homolog gene family, member B precursor							74.0	87.0	83.0					2																	20647449		2203	4300	6503	SO:0001583	missense	388				angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:20647449C>T		CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"""oncogene RHO H6"""	165370	"""ras homolog gene family, member B"""	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.223C>T	2.37:g.20647449C>T	ENSP00000272233:p.Pro75Ser						p.P75S	NM_004040	NP_004031	P62745	RHOB_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	1	615	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)	75					B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Missense_Mutation	SNP	ENST00000272233.4	37	c.223C>T	CCDS1699.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.838971	0.51057	.	.	ENSG00000143878	ENST00000272233	T	0.69306	-0.39	5.06	4.17	0.49024	Small GTP-binding protein domain (1);	0.067558	0.64402	U	0.000013	T	0.65811	0.2727	L	0.39020	1.185	0.80722	D	1	P	0.43412	0.806	P	0.48270	0.572	T	0.70285	-0.4914	10	0.87932	D	0	-16.965	15.1114	0.72359	0.1428:0.8572:0.0:0.0	.	75	P62745	RHOB_HUMAN	S	75	ENSP00000272233:P75S	ENSP00000272233:P75S	P	+	1	0	RHOB	20510930	1.000000	0.71417	0.994000	0.49952	0.011000	0.07611	7.668000	0.83897	1.252000	0.44001	0.563000	0.77884	CCG		0.647	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1		NM_004040		52	54	0	0	0	0.01441	0	52	54		
C2orf44	80304	broad.mit.edu	37	2	24254029	24254029	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:24254029G>A	ENST00000295148.4	-	4	1997	c.1940C>T	c.(1939-1941)tCc>tTc	p.S647F	C2orf44_ENST00000406895.3_Missense_Mutation_p.P608S	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	647									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATCCAGTGGGAATCTGCAAA	0.363			T	ALK	NSCLC																																	uc002rep.2		NaN		Dom	yes		2	2p23.3	80304		chromosome 2 open reading frame 44			E					0				ovary(1)|breast(1)	2						c.(1939-1941)TCC>TTC		hypothetical protein LOC80304 isoform 1							46.0	49.0	48.0					2																	24254029		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24254029G>A	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1940C>T	2.37:g.24254029G>A	ENSP00000295148:p.Ser647Phe					C2orf44_uc010eya.2_Missense_Mutation_p.P608S	p.S647F	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN			4	2071	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		647					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.1940C>T	CCDS1705.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.37|10.37	1.331165|1.331165	0.24167|0.24167	.|.	.|.	ENSG00000163026|ENSG00000163026	ENST00000406895|ENST00000295148	T|T	0.57907|0.53206	0.37|0.63	4.82|4.82	3.0|3.0	0.34707|0.34707	.|.	.|0.342464	.|0.31335	.|N	.|0.007826	T|T	0.68016|0.68016	0.2955|0.2955	.|.	.|.	.|.	0.31324|0.31324	N|N	0.685685|0.685685	B|D	0.17038|0.76494	0.02|0.999	B|D	0.27887|0.63877	0.084|0.919	T|T	0.76000|0.76000	-0.3119|-0.3119	8|9	0.13853|0.72032	T|D	0.58|0.01	-1.7393|-1.7393	17.8638|17.8638	0.88790|0.88790	0.0:0.2312:0.7688:0.0|0.0:0.2312:0.7688:0.0	.|.	608|647	Q9H6R7-2|Q9H6R7	.|CB044_HUMAN	S|F	608|647	ENSP00000385816:P608S|ENSP00000295148:S647F	ENSP00000385816:P608S|ENSP00000295148:S647F	P|S	-|-	1|2	0|0	C2orf44|C2orf44	24107533|24107533	1.000000|1.000000	0.71417|0.71417	0.457000|0.457000	0.27056|0.27056	0.005000|0.005000	0.04900|0.04900	4.409000|4.409000	0.59768|0.59768	0.190000|0.190000	0.20209|0.20209	-1.946000|-1.946000	0.00489|0.00489	CCC|TCC		0.363	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1		NM_025203		7	15	0	0	0	0.001984	0	7	15		
IFT172	26160	broad.mit.edu	37	2	27672643	27672643	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:27672643C>A	ENST00000260570.3	-	37	4178	c.4075G>T	c.(4075-4077)Gac>Tac	p.D1359Y		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1359					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTGACAAGGTCCAGATTCAGA	0.522																																						uc002rku.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(4075-4077)GAC>TAC		selective LIM binding factor homolog							130.0	122.0	125.0					2																	27672643		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27672643C>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4075G>T	2.37:g.27672643C>A	ENSP00000260570:p.Asp1359Tyr					IFT172_uc010ezb.2_RNA	p.D1359Y	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			37	4126	-	Acute lymphoblastic leukemia(172;0.155)		1359			TPR 11.		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.4075G>T	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895839	0.72639	.	.	ENSG00000138002	ENST00000260570	T	0.76578	-1.03	5.53	4.65	0.58169	.	0.048629	0.85682	D	0.000000	D	0.88310	0.6402	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.89819	0.3987	10	0.87932	D	0	-18.1209	12.9471	0.58379	0.0:0.9208:0.0:0.0792	.	1359	Q9UG01	IF172_HUMAN	Y	1359	ENSP00000260570:D1359Y	ENSP00000260570:D1359Y	D	-	1	0	IFT172	27526147	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.394000	0.66285	1.332000	0.45431	0.491000	0.48974	GAC		0.522	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2		NM_015662		47	44	1	0	5.57489e-27	0.01441	7.31899e-27	47	44		
FSHR	2492	broad.mit.edu	37	2	49189908	49189908	+	Silent	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:49189908G>A	ENST00000406846.2	-	10	2171	c.2052C>T	c.(2050-2052)taC>taT	p.Y684Y	FSHR_ENST00000346173.3_Silent_p.Y622Y|FSHR_ENST00000541117.1_Silent_p.Y420Y|FSHR_ENST00000304421.4_Silent_p.Y658Y	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	684					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GGACAAGTATGTAAGTGGAAC	0.418									Gonadal Dysgenesis, 46 XX																													uc002rww.2		NaN																	0				ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(2050-2052)TAC>TAT		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						135.0	129.0	131.0					2																	49189908		2203	4300	6503	SO:0001819	synonymous_variant	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49189908G>A		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.2052C>T	2.37:g.49189908G>A						FSHR_uc002rwx.2_Silent_p.Y622Y|FSHR_uc010fbn.2_Silent_p.Y658Y	p.Y684Y	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	2126	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	684			Cytoplasmic (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	37	c.2052C>T	CCDS1843.1																																																																																				0.418	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2				20	54	0	0	0	0.003954	0	20	54		
EHBP1	23301	broad.mit.edu	37	2	63176182	63176182	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:63176182G>A	ENST00000263991.5	+	14	2788	c.2306G>A	c.(2305-2307)aGt>aAt	p.S769N	EHBP1_ENST00000405015.3_Missense_Mutation_p.S734N|EHBP1_ENST00000354487.3_Missense_Mutation_p.S734N|EHBP1_ENST00000405289.1_Missense_Mutation_p.S734N|EHBP1_ENST00000431489.1_Missense_Mutation_p.S734N	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	769						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TACTCATATAGTAGAGATCTA	0.373																																						uc002sby.2		NaN																	0				ovary(1)|breast(1)	2						c.(2305-2307)AGT>AAT		EH domain binding protein 1 isoform 1							37.0	41.0	40.0					2																	63176182		2201	4298	6499	SO:0001583	missense	23301	Hereditary_Prostate_Cancer				cytoplasm|membrane		g.chr2:63176182G>A	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.2306G>A	2.37:g.63176182G>A	ENSP00000263991:p.Ser769Asn					EHBP1_uc010fcp.2_Missense_Mutation_p.S734N|EHBP1_uc002sbz.2_Missense_Mutation_p.S734N|EHBP1_uc002scb.2_Missense_Mutation_p.S734N	p.S769N	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		14	2788	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		769					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.2306G>A	CCDS1872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.073|2.073	-0.412690|-0.412690	0.04799|0.04799	.|.	.|.	ENSG00000115504|ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289|ENST00000454124	T;T;T;T;T|.	0.70749|.	-0.51;-0.51;-0.43;-0.44;-0.44|.	6.03|6.03	-2.47|-2.47	0.06442|0.06442	.|.	0.382691|.	0.31404|.	N|.	0.007714|.	T|T	0.06781|0.06781	0.0173|0.0173	N|N	0.00210|0.00210	-1.845|-1.845	0.22001|0.22001	N|N	0.999422|0.999422	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.001;0.0;0.0|.	T|T	0.42292|0.42292	-0.9460|-0.9460	10|5	0.02654|.	T|.	1|.	.|.	12.6377|12.6377	0.56692|0.56692	0.505:0.0:0.495:0.0|0.505:0.0:0.495:0.0	.|.	734;734;769|.	Q8NDI1-2;Q8NDI1-3;Q8NDI1|.	.;.;EHBP1_HUMAN|.	N|I	734;734;769;734;734|39	ENSP00000384143:S734N;ENSP00000403783:S734N;ENSP00000263991:S769N;ENSP00000346482:S734N;ENSP00000385524:S734N|.	ENSP00000263991:S769N|.	S|V	+|+	2|1	0|0	EHBP1|EHBP1	63029686|63029686	0.012000|0.012000	0.17670|0.17670	0.465000|0.465000	0.27155|0.27155	0.727000|0.727000	0.41649|0.41649	0.215000|0.215000	0.17562|0.17562	-0.680000|-0.680000	0.05211|0.05211	-0.345000|-0.345000	0.07892|0.07892	AGT|GTA		0.373	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1		NM_015252		20	13	0	0	0	0.010504	0	20	13		
SFTPB	6439	broad.mit.edu	37	2	85894867	85894867	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:85894867C>A	ENST00000519937.2	-	2	149	c.130G>T	c.(130-132)Gag>Tag	p.E44*	SFTPB_ENST00000409383.1_Nonsense_Mutation_p.E56*|SFTPB_ENST00000393822.3_Nonsense_Mutation_p.E56*|SFTPB_ENST00000342375.3_Nonsense_Mutation_p.E44*			P07988	PSPB_HUMAN	surfactant protein B	44	Saposin A-type. {ECO:0000255|PROSITE- ProRule:PRU00414}.				organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						AATGCTTGCTCCAGGCTTTGG	0.592																																						uc002sqh.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(130-132)GAG>TAG		surfactant, pulmonary-associated protein B							96.0	88.0	91.0					2																	85894867		2203	4300	6503	SO:0001587	stop_gained	6439				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		g.chr2:85894867C>A	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"""surfactant, pulmonary-associated protein B"""	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.130G>T	2.37:g.85894867C>A	ENSP00000428719:p.Glu44*					SFTPB_uc002sqi.2_Nonsense_Mutation_p.E56*|SFTPB_uc002sqj.2_Nonsense_Mutation_p.E44*	p.E44*	NM_198843	NP_942140	P07988	PSPB_HUMAN			2	136	-			44			Saposin A-type.		Q96R04	Nonsense_Mutation	SNP	ENST00000519937.2	37	c.130G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.096994|5.096994	0.94197|0.94197	.|.	.|.	ENSG00000168878|ENSG00000168878	ENST00000519937;ENST00000393822;ENST00000342375;ENST00000409383;ENST00000441838|ENST00000428225	.|.	.|.	.|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	0.000000|.	0.52532|.	D|.	0.000069|.	.|T	.|0.63438	.|0.2511	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70117	.|-0.4960	.|3	0.16896|.	T|.	0.51|.	-13.1727|-13.1727	13.4853|13.4853	0.61361|0.61361	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	46;56;44;56;44|40	.|.	ENSP00000345161:E44X|.	E|G	-|-	1|2	0|0	SFTPB|SFTPB	85748378|85748378	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.661000|0.661000	0.39034|0.39034	3.849000|3.849000	0.55910|0.55910	2.223000|2.223000	0.72356|0.72356	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.592	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3		NM_198843		50	35	1	0	4.88482e-21	0.01441	6.13868e-21	50	35		
TBC1D8	11138	broad.mit.edu	37	2	101624308	101624308	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:101624308G>A	ENST00000376840.4	-	20	3397	c.3398C>T	c.(3397-3399)tCt>tTt	p.S1133F	TBC1D8_ENST00000409318.1_Missense_Mutation_p.S1148F|RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409028.4_Intron			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1133					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CTTAAGTTCAGATTGTGATTG	0.423																																						uc010fiv.2		NaN																	0				ovary(3)	3						c.(3397-3399)TCT>TTT		TBC1 domain family, member 8							200.0	209.0	206.0					2																	101624308		1978	4161	6139	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101624308G>A	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.3398C>T	2.37:g.101624308G>A	ENSP00000366036:p.Ser1133Phe					RPL31_uc010yvu.1_Intron|RPL31_uc010yvv.1_Intron|RPL31_uc010fiu.1_Intron|TBC1D8_uc002tau.3_Missense_Mutation_p.S890F	p.S1133F	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN			20	3529	-			1133					A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.3398C>T	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568250	0.28003	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03358	3.96;3.96	4.51	4.51	0.55191	.	0.719989	0.12432	N	0.469441	T	0.02807	0.0084	N	0.08118	0	0.23865	N	0.996623	B	0.23540	0.087	B	0.22386	0.039	T	0.41645	-0.9497	10	0.59425	D	0.04	-0.1457	12.032	0.53403	0.0:0.2269:0.7731:0.0	.	1133	O95759	TBCD8_HUMAN	F	1133;1148	ENSP00000366036:S1133F;ENSP00000386856:S1148F	ENSP00000366036:S1133F	S	-	2	0	TBC1D8	100990740	0.077000	0.21312	0.744000	0.31058	0.687000	0.40016	0.865000	0.27940	2.397000	0.81536	0.655000	0.94253	TCT		0.423	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1		NM_007063		33	142	0	0	0	0.00874	0	33	142		
TBC1D8	11138	broad.mit.edu	37	2	101624437	101624437	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:101624437G>C	ENST00000376840.4	-	20	3268	c.3269C>G	c.(3268-3270)gCt>gGt	p.A1090G	TBC1D8_ENST00000409318.1_Missense_Mutation_p.A1105G|RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409028.4_Intron			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1090					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CAGAAGTGAAGCTAAAATATG	0.448																																						uc010fiv.2		NaN																	0				ovary(3)	3						c.(3268-3270)GCT>GGT		TBC1 domain family, member 8							90.0	91.0	90.0					2																	101624437		1901	4111	6012	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101624437G>C	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.3269C>G	2.37:g.101624437G>C	ENSP00000366036:p.Ala1090Gly					RPL31_uc010yvu.1_Intron|RPL31_uc010yvv.1_Intron|RPL31_uc010fiu.1_Intron|TBC1D8_uc002tau.3_Missense_Mutation_p.A847G	p.A1090G	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN			20	3400	-			1090					A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.3269C>G	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590943	0.86851	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.20738	2.05;2.12	5.14	5.14	0.70334	.	0.000000	0.53938	D	0.000046	T	0.49389	0.1554	M	0.80183	2.485	0.48975	D	0.999736	D	0.89917	1.0	D	0.91635	0.999	T	0.45527	-0.9255	10	0.28530	T	0.3	-13.6031	18.2124	0.89874	0.0:0.0:1.0:0.0	.	1090	O95759	TBCD8_HUMAN	G	1090;1105	ENSP00000366036:A1090G;ENSP00000386856:A1105G	ENSP00000366036:A1090G	A	-	2	0	TBC1D8	100990869	1.000000	0.71417	0.955000	0.39395	0.960000	0.62799	9.299000	0.96137	2.349000	0.79799	0.591000	0.81541	GCT		0.448	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1		NM_007063		4	37	0	0	0	0.009096	0	4	37		
TGFBRAP1	9392	broad.mit.edu	37	2	105890144	105890144	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:105890144C>T	ENST00000393359.2	-	9	2095	c.1669G>A	c.(1669-1671)Gga>Aga	p.G557R	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.G557R			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	557					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ACCTGAACTCCGACCTGAAAG	0.403																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	uc002tcq.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1669-1671)GGA>AGA		transforming growth factor, beta receptor							138.0	131.0	134.0					2																	105890144		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105890144C>T	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1669G>A	2.37:g.105890144C>T	ENSP00000377027:p.Gly557Arg					TGFBRAP1_uc010fjc.2_Intron|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.G557R	p.G557R	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN			9	1753	-			557					A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.1669G>A	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925047	0.92319	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.57595	0.39;0.39	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.77545	0.4146	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.81767	-0.0782	10	0.72032	D	0.01	-18.346	17.5144	0.87769	0.0:1.0:0.0:0.0	.	557	Q8WUH2	TGFA1_HUMAN	R	557	ENSP00000377027:G557R;ENSP00000258449:G557R	ENSP00000258449:G557R	G	-	1	0	TGFBRAP1	105256576	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.129000	0.77225	2.575000	0.86900	0.591000	0.81541	GGA		0.403	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2		NM_004257		5	21	0	0	0	0.00308	0	5	21		
ATF2	1386	broad.mit.edu	37	2	175979453	175979453	+	Silent	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:175979453T>C	ENST00000264110.2	-	8	889	c.591A>G	c.(589-591)gtA>gtG	p.V197V	ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000487334.2_Silent_p.V179V|ATF2_ENST00000392544.1_Silent_p.V197V|ATF2_ENST00000409635.1_Silent_p.V139V|ATF2_ENST00000538946.1_Silent_p.V179V|ATF2_ENST00000426833.3_Silent_p.V179V|ATF2_ENST00000345739.5_Silent_p.V139V|ATF2_ENST00000409833.1_Silent_p.V197V|ATF2_ENST00000409437.1_Intron	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	197					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|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)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	CCTGGGTGATTACAGTACTTG	0.403																																					Pancreas(17;87 705 4534 15538 30988)	uc002ujl.2		NaN																	0				lung(1)|breast(1)|pancreas(1)	3						c.(589-591)GTA>GTG		activating transcription factor 2							267.0	239.0	248.0					2																	175979453		2203	4300	6503	SO:0001819	synonymous_variant	1386				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|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	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr2:175979453T>C	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.591A>G	2.37:g.175979453T>C						ATF2_uc010fqv.2_Silent_p.V148V|ATF2_uc002ujv.2_5'UTR|ATF2_uc002ujm.2_Silent_p.V139V|ATF2_uc002ujn.2_RNA|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Silent_p.V197V|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Silent_p.V179V|ATF2_uc002ujs.2_Silent_p.V139V|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_RNA|ATF2_uc002ujw.1_Silent_p.V139V|ATF2_uc002ujx.1_RNA|ATF2_uc002ujy.1_Silent_p.V197V	p.V197V	NM_001880	NP_001871	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		8	853	-			197					A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Silent	SNP	ENST00000264110.2	37	c.591A>G	CCDS2262.1																																																																																				0.403	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1		NM_001880		118	93	0	0	0	0.01441	0	118	93		
TTN	7273	broad.mit.edu	37	2	179613658	179613658	+	Intron	SNP	A	A	G	rs566616408		TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:179613658A>G	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.I4490T|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			TTTGTCATCAATCTTCTTTTG	0.313													A|||	1	0.000199681	0.0	0.0	5008	,	,		19251	0.001		0.0	False		,,,				2504	0.0					uc002unb.2		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13468-13470)ATT>ACT		titin isoform novex-3							94.0	94.0	94.0					2																	179613658		2203	4298	6501	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613658A>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.10360+4192T>C	2.37:g.179613658A>G						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.I4490T	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13693	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.13469T>C		.	.	.	.	.	.	.	.	.	.	A	5.846	0.340236	0.11069	.	.	ENSG00000155657	ENST00000360870	T	0.58210	0.35	5.74	-8.12	0.01078	.	.	.	.	.	T	0.23370	0.0565	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17806	-1.0357	9	0.13853	T	0.58	.	3.9747	0.09468	0.1794:0.1933:0.4443:0.183	.	4490	Q8WZ42-6	.	T	4490	ENSP00000354117:I4490T	ENSP00000354117:I4490T	I	-	2	0	TTN	179321903	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.919000	0.04017	-1.174000	0.02754	-0.376000	0.06991	ATT		0.313	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		23	19	0	0	0	0.003954	0	23	19		
TTN	7273	broad.mit.edu	37	2	179649056	179649056	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:179649056A>G	ENST00000591111.1	-	16	2740	c.2516T>C	c.(2515-2517)aTt>aCt	p.I839T	TTN_ENST00000342175.6_Missense_Mutation_p.I793T|TTN_ENST00000342992.6_Missense_Mutation_p.I839T|TTN_ENST00000359218.5_Missense_Mutation_p.I793T|TTN_ENST00000360870.5_Missense_Mutation_p.I839T|TTN_ENST00000589042.1_Missense_Mutation_p.I839T|TTN_ENST00000460472.2_Missense_Mutation_p.I793T			Q8WZ42	TITIN_HUMAN	titin	33670					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)			TAATGTGGCAATAGCACTACC	0.468																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(2515-2517)ATT>ACT		titin isoform N2-A							68.0	60.0	63.0					2																	179649056		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179649056A>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.2516T>C	2.37:g.179649056A>G	ENSP00000465570:p.Ile839Thr					TTN_uc010zfh.1_Missense_Mutation_p.I793T|TTN_uc010zfi.1_Missense_Mutation_p.I793T|TTN_uc010zfj.1_Missense_Mutation_p.I793T|TTN_uc002unb.2_Missense_Mutation_p.I839T	p.I839T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		16	2740	-			839					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.2516T>C		.	.	.	.	.	.	.	.	.	.	A	14.97	2.694561	0.48202	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.71103	-0.54;-0.32;-0.32;-0.33;-0.14	5.52	5.52	0.82312	Ribonuclease H-like (1);	.	.	.	.	T	0.76543	0.4002	L	0.32530	0.975	0.37327	D	0.909797	P;P;P;P;D	0.71674	0.799;0.799;0.799;0.799;0.998	B;B;B;B;D	0.66351	0.395;0.395;0.395;0.395;0.943	T	0.81940	-0.0703	9	0.87932	D	0	.	15.9355	0.79704	1.0:0.0:0.0:0.0	.	793;793;793;839;839	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	839;793;793;793;793;839	ENSP00000343764:I839T;ENSP00000434586:I793T;ENSP00000340554:I793T;ENSP00000352154:I793T;ENSP00000354117:I839T	ENSP00000340554:I793T	I	-	2	0	TTN	179357301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.889000	0.92470	2.234000	0.73211	0.533000	0.62120	ATT		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		27	30	0	0	0	0.003271	0	27	30		
CCDC108	255101	broad.mit.edu	37	2	219900359	219900359	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:219900359G>A	ENST00000341552.5	-	5	468	c.385C>T	c.(385-387)Cac>Tac	p.H129Y	CCDC108_ENST00000410037.1_Missense_Mutation_p.H64Y|CCDC108_ENST00000295729.2_Missense_Mutation_p.H64Y|CCDC108_ENST00000441968.1_Missense_Mutation_p.H129Y|CCDC108_ENST00000453220.1_Missense_Mutation_p.H129Y|CCDC108_ENST00000324264.6_Missense_Mutation_p.H64Y|CCDC108_ENST00000409865.3_Missense_Mutation_p.H118Y	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	129				H -> R (in Ref. 1; BAC86878). {ECO:0000305}.		integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTGGGGAGTGCATCTGAGTG	0.567																																						uc002vjl.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(385-387)CAC>TAC		coiled-coil domain containing 108 isoform 1							114.0	99.0	104.0					2																	219900359		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219900359G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.385C>T	2.37:g.219900359G>A	ENSP00000340776:p.His129Tyr					CCDC108_uc010zkp.1_Missense_Mutation_p.H118Y|CCDC108_uc010zkq.1_Missense_Mutation_p.H64Y|CCDC108_uc002vjn.2_Missense_Mutation_p.H64Y	p.H129Y	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	469	-		Renal(207;0.0915)	129	H -> R (in Ref. 1; BAC86878).				A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.385C>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	9.278	1.047393	0.19827	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164;ENST00000457968;ENST00000436631;ENST00000295729;ENST00000324264;ENST00000458526	T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	4.86	2.52	0.30459	.	0.423459	0.20263	N	0.095838	T	0.10637	0.0260	N	0.08118	0	0.09310	N	1	P;P;P	0.44578	0.838;0.838;0.521	B;B;B	0.37550	0.253;0.253;0.134	T	0.26573	-1.0099	10	0.02654	T	1	-8.0248	7.5758	0.27935	0.6585:0.0:0.3415:0.0	.	118;64;129	E9PG25;E9PCR1;Q6ZU64	.;.;CC108_HUMAN	Y	129;129;129;118;64;63;118;64;64;64;64	ENSP00000340776:H129Y;ENSP00000413377:H129Y;ENSP00000409117:H129Y;ENSP00000386945:H118Y;ENSP00000386258:H64Y;ENSP00000393483:H118Y;ENSP00000396836:H64Y;ENSP00000295729:H64Y;ENSP00000313807:H64Y;ENSP00000413746:H64Y	ENSP00000295729:H64Y	H	-	1	0	CCDC108	219608603	0.000000	0.05858	0.009000	0.14445	0.003000	0.03518	0.564000	0.23563	0.369000	0.24510	-0.367000	0.07326	CAC		0.567	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4		NM_194302		63	16	0	0	0	0.01441	0	63	16		
SCG2	7857	broad.mit.edu	37	2	224462395	224462395	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:224462395C>G	ENST00000305409.2	-	2	1838	c.1606G>C	c.(1606-1608)Gac>Cac	p.D536H		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCCTGCAGGTCATCTTCAGAT	0.468																																						uc002vnm.2		NaN																	0				ovary(1)	1						c.(1606-1608)GAC>CAC		secretogranin II precursor							117.0	106.0	109.0					2																	224462395		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224462395C>G	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1606G>C	2.37:g.224462395C>G	ENSP00000304133:p.Asp536His						p.D536H	NM_003469	NP_003460	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	1739	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	536					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.1606G>C	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080231	0.36662	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01745	4.66	5.77	4.87	0.63330	.	0.480480	0.20550	N	0.090122	T	0.04092	0.0114	L	0.44542	1.39	0.46061	D	0.998841	P	0.38335	0.627	P	0.48304	0.573	T	0.55159	-0.8184	10	0.44086	T	0.13	.	12.0678	0.53598	0.0:0.8526:0.0:0.1474	.	536	P13521	SCG2_HUMAN	H	536;396	ENSP00000304133:D536H	ENSP00000304133:D536H	D	-	1	0	SCG2	224170639	1.000000	0.71417	0.991000	0.47740	0.834000	0.47266	3.491000	0.53252	1.383000	0.46405	0.585000	0.79938	GAC		0.468	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2		NM_003469		19	10	0	0	0	0.014323	0	19	10		
RALGAPA2	57186	broad.mit.edu	37	20	20610169	20610169	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr20:20610169C>A	ENST00000202677.7	-	10	1078	c.1071G>T	c.(1069-1071)caG>caT	p.Q357H		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	357					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GGCTTTTGTCCTGCTCCGTGG	0.537																																						uc002wrz.2		NaN																	0				ovary(1)	1						c.(1069-1071)CAG>CAT		akt substrate AS250							131.0	136.0	134.0					20																	20610169		2158	4265	6423	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20610169C>A	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.1071G>T	20.37:g.20610169C>A	ENSP00000202677:p.Gln357His					RALGAPA2_uc010gcx.2_Missense_Mutation_p.Q61H|RALGAPA2_uc010zsg.1_Translation_Start_Site	p.Q357H	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			10	1214	-			357					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.1071G>T	CCDS46584.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	6.911|6.911|6.911	0.537674|0.537674|0.537674	0.13188|0.13188|0.13188	.|.|.	.|.|.	ENSG00000188559|ENSG00000188559|ENSG00000188559	ENST00000432524|ENST00000202677|ENST00000430436	.|T|.	.|0.78816|.	.|-1.21|.	5.1|5.1|5.1	0.698|0.698|0.698	0.18087|0.18087|0.18087	.|.|.	.|0.219310|.	.|0.48286|.	.|D|.	.|0.000188|.	.|T|T	.|0.57021|0.57021	.|0.2025|0.2025	L|L|L	0.51422|0.51422|0.51422	1.61|1.61|1.61	0.38652|0.38652|0.38652	D|D|D	0.951863|0.951863|0.951863	.|P|.	.|0.45348|.	.|0.856|.	.|B|.	.|0.43536|.	.|0.423|.	.|T|T	.|0.51553|0.51553	.|-0.8691|-0.8691	.|10|5	.|0.56958|.	.|D|.	.|0.05|.	.|.|.	10.8115|10.8115|10.8115	0.46549|0.46549|0.46549	0.0:0.5518:0.0:0.4482|0.0:0.5518:0.0:0.4482|0.0:0.5518:0.0:0.4482	.|.|.	.|357|.	.|Q2PPJ7|.	.|RGPA2_HUMAN|.	X|H|M	209|357|174	.|ENSP00000202677:Q357H|.	.|ENSP00000202677:Q357H|.	G|Q|R	-|-|-	1|3|2	0|2|0	RALGAPA2|RALGAPA2|RALGAPA2	20558169|20558169|20558169	0.955000|0.955000|0.955000	0.32602|0.32602|0.32602	0.432000|0.432000|0.432000	0.26747|0.26747|0.26747	0.085000|0.085000|0.085000	0.17905|0.17905|0.17905	0.073000|0.073000|0.073000	0.14640|0.14640|0.14640	-0.373000|-0.373000|-0.373000	0.07979|0.07979|0.07979	-1.164000|-1.164000|-1.164000	0.01763|0.01763|0.01763	GGA|CAG|AGG		0.537	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1		NM_020343		104	111	1	0	2.27795e-59	0.01441	3.11231e-59	104	111		
WFDC3	140686	broad.mit.edu	37	20	44418583	44418583	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr20:44418583G>T	ENST00000243938.4	-	2	115	c.32C>A	c.(31-33)gCa>gAa	p.A11E	WFDC3_ENST00000372632.2_Missense_Mutation_p.A11E|DNTTIP1_ENST00000372622.3_5'Flank|WFDC3_ENST00000481847.1_Intron|WFDC3_ENST00000372630.2_Missense_Mutation_p.A11E	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	11						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				AGCAAGAAGTGCCTTCAGAAG	0.483																																						uc002xpf.1		NaN																	0					0						c.(31-33)GCA>GAA		WAP four-disulfide core domain 3 precursor							109.0	91.0	97.0					20																	44418583		2203	4300	6503	SO:0001583	missense	140686					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44418583G>T	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.32C>A	20.37:g.44418583G>T	ENSP00000243938:p.Ala11Glu					DNTTIP1_uc002xpk.2_5'Flank|WFDC3_uc002xpj.1_Intron|WFDC3_uc002xph.1_Intron|WFDC3_uc010ghh.1_Intron	p.A11E	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN			2	116	-		Myeloproliferative disorder(115;0.0122)	11					A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Missense_Mutation	SNP	ENST00000243938.4	37	c.32C>A	CCDS33478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.33|16.33	3.094160|3.094160	0.56075|0.56075	.|.	.|.	ENSG00000124116|ENSG00000124116	ENST00000243938;ENST00000372630;ENST00000372632|ENST00000337205	T;T;T|.	0.27256|.	1.77;1.68;1.74|.	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	0.000000|.	0.38492|.	N|.	0.001664|.	T|T	0.60534|0.60534	0.2276|0.2276	M|M	0.78916|0.78916	2.43|2.43	0.25090|0.25090	N|N	0.990868|0.990868	P|.	0.50443|.	0.935|.	P|.	0.47346|.	0.544|.	T|T	0.53592|0.53592	-0.8417|-0.8417	10|5	0.49607|.	T|.	0.09|.	-6.108|-6.108	12.0519|12.0519	0.53511|0.53511	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	11|.	Q8IUB2|.	WFDC3_HUMAN|.	E|N	11|5	ENSP00000243938:A11E;ENSP00000361713:A11E;ENSP00000361715:A11E|.	ENSP00000243938:A11E|.	A|H	-|-	2|1	0|0	WFDC3|WFDC3	43851990|43851990	0.063000|0.063000	0.20901|0.20901	0.998000|0.998000	0.56505|0.56505	0.962000|0.962000	0.63368|0.63368	0.779000|0.779000	0.26746|0.26746	2.566000|2.566000	0.86566|0.86566	0.609000|0.609000	0.83330|0.83330	GCA|CAC		0.483	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1				28	63	1	0	6.53348e-20	0.003755	8.08088e-20	28	63		
ZNF831	128611	broad.mit.edu	37	20	57768368	57768368	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr20:57768368C>T	ENST00000371030.2	+	1	2294	c.2294C>T	c.(2293-2295)cCt>cTt	p.P765L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	765							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCCCAGCACCTGGCCCCCTC	0.647																																						uc002yan.2		NaN																	0				skin(13)|ovary(1)	14						c.(2293-2295)CCT>CTT		zinc finger protein 831							18.0	23.0	21.0					20																	57768368		1873	4111	5984	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768368C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2294C>T	20.37:g.57768368C>T	ENSP00000360069:p.Pro765Leu						p.P765L	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	2294	+	all_lung(29;0.0085)		765					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.2294C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339540	0.41398	.	.	ENSG00000124203	ENST00000371030	T	0.05382	3.45	4.85	3.9	0.45041	.	0.161536	0.29522	N	0.011907	T	0.09512	0.0234	L	0.29908	0.895	0.19300	N	0.999976	D	0.54047	0.964	P	0.51101	0.659	T	0.06899	-1.0801	10	0.66056	D	0.02	-3.2402	12.6717	0.56870	0.0:0.8342:0.1658:0.0	.	765	Q5JPB2	ZN831_HUMAN	L	765	ENSP00000360069:P765L	ENSP00000360069:P765L	P	+	2	0	ZNF831	57201763	0.001000	0.12720	0.002000	0.10522	0.009000	0.06853	0.644000	0.24766	1.027000	0.39758	-0.275000	0.10095	CCT		0.647	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2		NM_178457		5	9	0	0	0	0.001168	0	5	9		
DIDO1	11083	broad.mit.edu	37	20	61513072	61513072	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr20:61513072C>G	ENST00000266070.4	-	16	4561	c.4236G>C	c.(4234-4236)agG>agC	p.R1412S	DIDO1_ENST00000395343.1_Missense_Mutation_p.R1412S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1412					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTCAGGAGCCCTTTCCACCT	0.612																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NaN																	0				ovary(3)|skin(3)	6						c.(4234-4236)AGG>AGC		death inducer-obliterator 1 isoform c							79.0	86.0	84.0					20																	61513072		2203	4299	6502	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513072C>G	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4236G>C	20.37:g.61513072C>G	ENSP00000266070:p.Arg1412Ser					DIDO1_uc002yds.1_Missense_Mutation_p.R1412S	p.R1412S	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	4500	-	Breast(26;5.68e-08)		1412					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4236G>C	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525870	0.27299	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.07444	3.19;3.19	5.67	-2.01	0.07410	.	0.820770	0.10034	N	0.724390	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42498	-0.9448	10	0.38643	T	0.18	-0.1062	1.8549	0.03177	0.3366:0.3667:0.1054:0.1912	.	1412	Q9BTC0	DIDO1_HUMAN	S	1412	ENSP00000266070:R1412S;ENSP00000378752:R1412S	ENSP00000266070:R1412S	R	-	3	2	DIDO1	60983517	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.194000	0.09559	0.019000	0.15079	0.563000	0.77884	AGG		0.612	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2		NM_080796		69	70	0	0	0	0.01441	0	69	70		
SAMD10	140700	broad.mit.edu	37	20	62608657	62608657	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr20:62608657C>G	ENST00000369886.3	-	2	368	c.194G>C	c.(193-195)tGg>tCg	p.W65S	ZNF512B_ENST00000450537.1_Intron|SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000217130.3_Intron	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	65										kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGAGTCATGCCACGTGAGGCT	0.667																																						uc002yhm.2		NaN																	0					0						c.(193-195)TGG>TCG		sterile alpha motif domain containing 10							70.0	75.0	74.0					20																	62608657		2203	4300	6503	SO:0001583	missense	140700							g.chr20:62608657C>G		CCDS13549.1	20q13.33	2013-01-10	2004-07-15	2004-07-16	ENSG00000130590	ENSG00000130590		"""Sterile alpha motif (SAM) domain containing"""	16129	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 136"""	C20orf136			Standard	NM_080621		Approved		uc002yhm.2	Q9BYL1	OTTHUMG00000033011	ENST00000369886.3:c.194G>C	20.37:g.62608657C>G	ENSP00000358902:p.Trp65Ser					SAMD10_uc002yhn.2_RNA	p.W65S	NM_080621	NP_542188	Q9BYL1	SAM10_HUMAN			2	369	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		65						Missense_Mutation	SNP	ENST00000369886.3	37	c.194G>C	CCDS13549.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567345	0.65651	.	.	ENSG00000130590	ENST00000369886;ENST00000450107	.	.	.	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000001	T	0.65995	0.2745	L	0.36672	1.1	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.62756	-0.6787	9	0.27785	T	0.31	-21.0958	15.7688	0.78149	0.0:1.0:0.0:0.0	.	65	Q9BYL1	SAM10_HUMAN	S	65;104	.	ENSP00000358902:W65S	W	-	2	0	SAMD10	62079101	1.000000	0.71417	0.997000	0.53966	0.455000	0.32408	6.865000	0.75500	2.147000	0.66899	0.467000	0.42956	TGG		0.667	SAMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080255.1		NM_080621		98	80	0	0	0	0.01441	0	98	80		
ZNF512B	57473	broad.mit.edu	37	20	62664245	62664245	+	Intron	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr20:62664245G>T	ENST00000450537.1	-	1	56				LINC00176_ENST00000444463.1_lincRNA|ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.G869W			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCCTCGGCATGGGGAGCTGTG	0.642																																						uc002yho.2		NaN																	0				ovary(2)	2						c.(2725-2727)GGG>TGG		PRP6 pre-mRNA processing factor 6 homolog							83.0	57.0	66.0					20																	62664245		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62664245G>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+15812C>A	20.37:g.62664245G>T						PRPF6_uc002yhp.2_Missense_Mutation_p.G869W|NCRNA00176_uc002yhq.2_5'Flank|NCRNA00176_uc011abq.1_5'Flank	p.G909W	NM_012469	NP_036601	O94906	PRP6_HUMAN			21	2893	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		909					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.2725G>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894402	0.72639	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.36157	1.27;1.27	4.98	4.01	0.46588	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.70710	0.3255	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80865	-0.1191	10	0.87932	D	0	-45.3037	14.361	0.66771	0.0763:0.0:0.9237:0.0	.	869;909	O94906-2;O94906	.;PRP6_HUMAN	W	909;869	ENSP00000266079:G909W;ENSP00000446216:G869W	ENSP00000266079:G909W	G	+	1	0	PRPF6	62134689	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	9.452000	0.97615	2.499000	0.84300	0.555000	0.69702	GGG		0.642	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1		NM_020713		25	23	1	0	7.92952e-12	0.003954	9.1795e-12	25	23		
MYT1	4661	broad.mit.edu	37	20	62871155	62871155	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr20:62871155A>G	ENST00000328439.1	+	22	3500	c.3136A>G	c.(3136-3138)Aac>Gac	p.N1046D	MYT1_ENST00000536311.1_Missense_Mutation_p.N1073D	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGAGGAGGAGAACAAGCTCAT	0.572																																					GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NaN																	0				ovary(2)	2						c.(3136-3138)AAC>GAC		myelin transcription factor 1							106.0	102.0	103.0					20																	62871155		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62871155A>G	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.3136A>G	20.37:g.62871155A>G	ENSP00000327465:p.Asn1046Asp					MYT1_uc002yij.2_Missense_Mutation_p.N705D|MYT1_uc002yik.2_Missense_Mutation_p.N12D	p.N1046D	NM_004535	NP_004526	Q01538	MYT1_HUMAN			22	3500	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		1046					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.3136A>G	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.039010	0.75617	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.52295	0.69;0.67	5.8	5.8	0.92144	.	0.048098	0.85682	D	0.000000	T	0.70090	0.3184	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.979	T	0.74300	-0.3710	10	0.87932	D	0	-40.5813	16.1383	0.81506	1.0:0.0:0.0:0.0	.	1073;1046	F5H7M8;Q01538	.;MYT1_HUMAN	D	1046;1073	ENSP00000327465:N1046D;ENSP00000442412:N1073D	ENSP00000327465:N1046D	N	+	1	0	MYT1	62341599	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.357000	0.79456	2.219000	0.72066	0.533000	0.62120	AAC		0.572	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1		NM_004535		88	73	0	0	0	0.01441	0	88	73		
BAGE2	85319	broad.mit.edu	37	21	11097575	11097575	+	RNA	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr21:11097575C>A	ENST00000470054.1	-	0	294							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gctccaacctccagctcacca	0.542																																						uc002yit.1		NaN																	0					0						c.(85-87)TGG>TGT		B melanoma antigen family, member 2 precursor							57.0	74.0	68.0					21																	11097575		1412	2554	3966			85319							g.chr21:11097575C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11097575C>A						BAGE_uc002yix.2_RNA	p.W29C	NM_182482	NP_872288			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	2	295	-								A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37	c.87G>T																																																																																					0.542	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3		NM_182482		11	79	1	0	9.31168e-06	0.001855	9.90156e-06	11	79		
PDE9A	5152	broad.mit.edu	37	21	44192566	44192566	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr21:44192566C>A	ENST00000291539.6	+	19	1764	c.1704C>A	c.(1702-1704)gaC>gaA	p.D568E	PDE9A_ENST00000398229.3_Missense_Mutation_p.D434E|PDE9A_ENST00000398234.3_Missense_Mutation_p.D467E|PDE9A_ENST00000398236.3_Missense_Mutation_p.D482E|PDE9A_ENST00000349112.3_Missense_Mutation_p.D440E|PDE9A_ENST00000398227.3_Missense_Mutation_p.D408E|PDE9A_ENST00000398225.3_Missense_Mutation_p.D527E|PDE9A_ENST00000328862.6_Missense_Mutation_p.D542E|PDE9A_ENST00000539837.1_Missense_Mutation_p.D440E|PDE9A_ENST00000398232.3_Missense_Mutation_p.D501E|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335440.6_Missense_Mutation_p.D466E|PDE9A_ENST00000398224.3_Missense_Mutation_p.D441E|PDE9A_ENST00000335512.4_Missense_Mutation_p.D508E|PDE9A_ENST00000380328.2_Missense_Mutation_p.D515E	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	568					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	AGAAGACTGACAGCTTGACGT	0.532																																						uc002zbm.2		NaN																	0				ovary(1)|skin(1)	2						c.(1702-1704)GAC>GAA		phosphodiesterase 9A isoform a							66.0	54.0	58.0					21																	44192566		2202	4300	6502	SO:0001583	missense	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44192566C>A	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1704C>A	21.37:g.44192566C>A	ENSP00000291539:p.Asp568Glu					PDE9A_uc002zbn.2_Missense_Mutation_p.D441E|PDE9A_uc002zbo.2_Missense_Mutation_p.D515E|PDE9A_uc002zbp.2_Missense_Mutation_p.D361E|PDE9A_uc002zbq.2_Missense_Mutation_p.D466E|PDE9A_uc002zbs.2_Missense_Mutation_p.D361E|PDE9A_uc002zbr.2_Missense_Mutation_p.D361E|PDE9A_uc002zbt.2_Missense_Mutation_p.D440E|PDE9A_uc002zbu.2_Missense_Mutation_p.D434E|PDE9A_uc002zbv.2_Missense_Mutation_p.D408E|PDE9A_uc002zbw.2_Missense_Mutation_p.D351E|PDE9A_uc002zbx.2_Missense_Mutation_p.D508E|PDE9A_uc002zby.2_Missense_Mutation_p.D351E|PDE9A_uc002zbz.2_Missense_Mutation_p.D460E|PDE9A_uc002zca.2_Missense_Mutation_p.D527E|PDE9A_uc002zcb.2_Missense_Mutation_p.D542E|PDE9A_uc002zcc.2_Missense_Mutation_p.D467E|PDE9A_uc002zcd.2_Missense_Mutation_p.D482E|PDE9A_uc002zce.2_Missense_Mutation_p.D501E|PDE9A_uc002zcf.2_Missense_Mutation_p.D361E|PDE9A_uc002zcg.2_Missense_Mutation_p.D361E|PDE9A_uc002zch.2_Missense_Mutation_p.D351E	p.D568E	NM_002606	NP_002597	O76083	PDE9A_HUMAN			19	1767	+			568					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	c.1704C>A	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.927957	0.00493	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66638	-0.19;-0.19;-0.18;-0.19;-0.2;-0.19;-0.19;-0.19;-0.22;-0.18;-0.2;-0.19;-0.2;-0.19	3.3	0.418	0.16429	.	168.882000	0.00166	N	0.000000	T	0.37489	0.1005	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.09377	0.002;0.001;0.001;0.003;0.004;0.002;0.001;0.001;0.001;0.001;0.001;0.003;0.001;0.001;0.001	T	0.47959	-0.9076	10	0.02654	T	1	.	7.1685	0.25704	0.1095:0.5205:0.37:0.0	.	501;482;467;542;527;460;508;351;408;434;440;466;515;441;568	O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	E	508;440;568;515;501;467;482;542;466;527;434;408;440;441	ENSP00000335242:D508E;ENSP00000441899:D440E;ENSP00000291539:D568E;ENSP00000369685:D515E;ENSP00000381287:D501E;ENSP00000381289:D467E;ENSP00000381291:D482E;ENSP00000328699:D542E;ENSP00000335365:D466E;ENSP00000381281:D527E;ENSP00000381285:D434E;ENSP00000381283:D408E;ENSP00000344730:D440E;ENSP00000381280:D441E	ENSP00000291539:D568E	D	+	3	2	PDE9A	43065635	0.002000	0.14202	0.003000	0.11579	0.010000	0.07245	-0.199000	0.09491	0.077000	0.16863	-0.314000	0.08810	GAC		0.532	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1				5	18	1	0	2.0095e-06	0.001984	2.18626e-06	5	18		
OR11H1	81061	broad.mit.edu	37	22	16449133	16449133	+	Silent	SNP	A	A	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr22:16449133A>C	ENST00000252835.4	-	1	672	c.672T>G	c.(670-672)ggT>ggG	p.G224G		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		AGAGGAAGTTACCAAAAATAA	0.433																																						uc011agd.1		NaN																	0					0						c.(670-672)GGT>GGG		olfactory receptor, family 11, subfamily H,							37.0	40.0	39.0					22																	16449133		2200	4290	6490	SO:0001819	synonymous_variant	81061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr22:16449133A>C	AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.672T>G	22.37:g.16449133A>C							p.G224G	NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)	1	672	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)	224			Helical; Name=5; (Potential).		Q6IEX0|Q96R32	Silent	SNP	ENST00000252835.4	37	c.672T>G	CCDS33594.1																																																																																				0.433	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074923.2		NM_001005239		25	31	0	0	0	0.01441	0	25	31		
MYO18B	84700	broad.mit.edu	37	22	26173598	26173598	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr22:26173598G>T	ENST00000407587.2	+	8	2087	c.1918G>T	c.(1918-1920)Gca>Tca	p.A640S	MYO18B_ENST00000536101.1_Missense_Mutation_p.A640S|MYO18B_ENST00000335473.7_Missense_Mutation_p.A640S			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	640	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGGCTCCATGGCACAGCGGGC	0.647																																						uc003abz.1		NaN																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(1918-1920)GCA>TCA		myosin XVIIIB							38.0	42.0	41.0					22																	26173598		2041	4202	6243	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26173598G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1918G>T	22.37:g.26173598G>T	ENSP00000386096:p.Ala640Ser					MYO18B_uc003aca.1_Missense_Mutation_p.A521S|MYO18B_uc010guy.1_Missense_Mutation_p.A521S|MYO18B_uc010guz.1_Missense_Mutation_p.A521S|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.A153S	p.A640S	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			8	2168	+			640			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.1918G>T		.	.	.	.	.	.	.	.	.	.	G	14.97	2.695515	0.48202	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.92699	-3.09;-3.09;-3.09	5.38	4.37	0.52481	Myosin head, motor domain (2);	0.061136	0.64402	D	0.000004	D	0.94739	0.8302	M	0.67569	2.06	0.43263	D	0.995204	D;D;D;D	0.71674	0.998;0.998;0.997;0.998	D;D;D;D	0.72338	0.958;0.977;0.941;0.961	D	0.93953	0.7233	10	0.41790	T	0.15	.	13.1503	0.59486	0.0764:0.0:0.9236:0.0	.	153;640;640;640	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	S	640	ENSP00000441229:A640S;ENSP00000334563:A640S;ENSP00000386096:A640S	ENSP00000334563:A640S	A	+	1	0	MYO18B	24503598	1.000000	0.71417	0.997000	0.53966	0.006000	0.05464	9.114000	0.94329	1.267000	0.44247	-0.136000	0.14681	GCA		0.647	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1		NM_032608		6	30	1	0	1.12685e-05	0.004482	1.19284e-05	6	30		
MYO18B	84700	broad.mit.edu	37	22	26219621	26219621	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr22:26219621C>A	ENST00000407587.2	+	13	2840	c.2671C>A	c.(2671-2673)Ctc>Atc	p.L891I	MYO18B_ENST00000536101.1_Missense_Mutation_p.L891I|MYO18B_ENST00000335473.7_Missense_Mutation_p.L891I			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	891	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCGATGGGGCCTCGAGGATGA	0.597																																						uc003abz.1		NaN																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(2671-2673)CTC>ATC		myosin XVIIIB							174.0	169.0	171.0					22																	26219621		2058	4190	6248	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26219621C>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2671C>A	22.37:g.26219621C>A	ENSP00000386096:p.Leu891Ile					MYO18B_uc003aca.1_Missense_Mutation_p.L772I|MYO18B_uc010guy.1_Missense_Mutation_p.L772I|MYO18B_uc010guz.1_Missense_Mutation_p.L772I|MYO18B_uc011aka.1_Missense_Mutation_p.L45I|MYO18B_uc011akb.1_Missense_Mutation_p.L404I	p.L891I	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			13	2921	+			891			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.2671C>A		.	.	.	.	.	.	.	.	.	.	C	12.95	2.090802	0.36855	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86627	-2.12;-2.12;-2.15	4.73	4.73	0.59995	Myosin head, motor domain (2);	1.338760	0.05011	N	0.471017	D	0.88742	0.6519	M	0.64676	1.99	0.09310	N	1	P;P;P;P	0.42409	0.528;0.714;0.779;0.666	B;P;P;B	0.45343	0.175;0.477;0.447;0.345	T	0.76814	-0.2820	10	0.37606	T	0.19	.	11.2954	0.49276	0.0:0.9091:0.0:0.0909	.	404;891;891;891	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	I	891	ENSP00000441229:L891I;ENSP00000334563:L891I;ENSP00000386096:L891I	ENSP00000334563:L891I	L	+	1	0	MYO18B	24549621	0.000000	0.05858	0.005000	0.12908	0.072000	0.16883	0.981000	0.29526	2.327000	0.79052	0.448000	0.29417	CTC		0.597	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1		NM_032608		103	112	1	0	3.45943e-77	0.01441	4.78215e-77	103	112		
IL2RB	3560	broad.mit.edu	37	22	37524836	37524836	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr22:37524836G>T	ENST00000216223.5	-	10	1154	c.956C>A	c.(955-957)gCa>gAa	p.A319E		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	319					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GATCTCAGGTGCCAGGCCGCC	0.627																																						uc003aqv.1		NaN																	0					0						c.(955-957)GCA>GAA		interleukin 2 receptor beta precursor	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						42.0	39.0	40.0					22																	37524836		2203	4299	6502	SO:0001583	missense	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524836G>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.956C>A	22.37:g.37524836G>T	ENSP00000216223:p.Ala319Glu						p.A319E	NM_000878	NP_000869	P14784	IL2RB_HUMAN			10	1087	-			319			Cytoplasmic (Potential).		B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	c.956C>A	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243571	0.22796	.	.	ENSG00000100385	ENST00000216223	T	0.09445	2.98	4.64	9.78E-4	0.14044	.	0.442312	0.19138	N	0.121750	T	0.11452	0.0279	L	0.58101	1.795	0.09310	N	1	P	0.47350	0.894	P	0.48982	0.597	T	0.19451	-1.0305	10	0.10377	T	0.69	-5.5002	4.0206	0.09664	0.2398:0.0:0.4811:0.2791	.	319	P14784	IL2RB_HUMAN	E	319	ENSP00000216223:A319E	ENSP00000216223:A319E	A	-	2	0	IL2RB	35854782	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.259000	0.18405	-0.090000	0.12462	-0.122000	0.15005	GCA		0.627	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1				14	37	1	0	3.99206e-14	0.007413	4.7621e-14	14	37		
MKL1	57591	broad.mit.edu	37	22	40804819	40804819	+	IGR	SNP	C	C	T	rs140197200	byFrequency	TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr22:40804819C>T	ENST00000355630.3	-	0	4496				SGSM3_ENST00000248929.9_Silent_p.V625V|SGSM3_ENST00000454798.2_Silent_p.V558V	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						ATGGCAAAGTCCTGACCCCGG	0.652			T	RBM15	acute megakaryocytic leukemia																																	uc003ayu.1		NaN		Dom	yes		22	22q13	57591		megakaryoblastic leukemia (translocation) 1			L					0				ovary(2)	2						c.(1873-1875)GTC>GTT		small G protein signaling modulator 3							42.0	50.0	47.0					22																	40804819		2203	4300	6503	SO:0001628	intergenic_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40804819C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40804819C>T						SGSM3_uc011aos.1_Silent_p.V558V|SGSM3_uc011aot.1_Silent_p.V536V|SGSM3_uc010gyd.1_Silent_p.V696V	p.V625V	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN			18	2084	+			625			RUN.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.1875C>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	6.113	0.389064	0.11581	.	.	ENSG00000100359	ENST00000417424	.	.	.	4.33	2.05	0.26809	.	.	.	.	.	T	0.53578	0.1805	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43180	-0.9407	4	.	.	.	.	5.9921	0.19472	0.0:0.547:0.2705:0.1825	.	.	.	.	S	8	.	.	P	+	1	0	SGSM3	39134765	0.450000	0.25697	1.000000	0.80357	0.665000	0.39181	-0.190000	0.09615	0.446000	0.26666	-0.643000	0.03959	CCT		0.652	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1		NM_020831		15	49	0	0	0	0.012319	0	15	49		
TEF	7008	broad.mit.edu	37	22	41783535	41783535	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr22:41783535G>A	ENST00000266304.4	+	2	454	c.338G>A	c.(337-339)aGc>aAc	p.S113N	TEF_ENST00000406644.3_Missense_Mutation_p.S83N	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	113					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						ATCCCCGCCAGCCCCACCCAC	0.587																																						uc003azy.2		NaN																	0				ovary(1)	1						c.(337-339)AGC>AAC		thyrotrophic embryonic factor isoform 1							111.0	98.0	102.0					22																	41783535		2203	4300	6503	SO:0001583	missense	7008				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41783535G>A		CCDS14014.1, CCDS46716.1	22q13.2	2013-01-10			ENSG00000167074	ENSG00000167074		"""basic leucine zipper proteins"""	11722	protein-coding gene	gene with protein product		188595				7835883, 15665112	Standard	NM_001145398		Approved	KIAA1655	uc003azy.4	Q10587	OTTHUMG00000150968	ENST00000266304.4:c.338G>A	22.37:g.41783535G>A	ENSP00000266304:p.Ser113Asn					TEF_uc003azx.2_Missense_Mutation_p.S83N|TEF_uc011apa.1_Missense_Mutation_p.S118N	p.S113N	NM_003216	NP_003207	Q10587	TEF_HUMAN			2	424	+			113					B0QYS8|B2RC22|Q15729|Q7Z3J7|Q8IU94|Q96TG4	Missense_Mutation	SNP	ENST00000266304.4	37	c.338G>A	CCDS14014.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.11|16.11	3.031162|3.031162	0.54790|0.54790	.|.	.|.	ENSG00000167074|ENSG00000167074	ENST00000413942|ENST00000406644;ENST00000433913;ENST00000266304	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.278026	.|0.45126	.|D	.|0.000391	T|T	0.49847|0.49847	0.1581|0.1581	L|L	0.37697|0.37697	1.125|1.125	0.46203|0.46203	D|D	0.99892|0.99892	.|B;B;B	.|0.34226	.|0.093;0.299;0.443	.|B;B;B	.|0.28638	.|0.068;0.055;0.092	T|T	0.51325|0.51325	-0.8720|-0.8720	5|9	.|0.51188	.|T	.|0.08	-22.9925|-22.9925	19.5275|19.5275	0.95212|0.95212	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|118;113;83	.|B4DIH3;Q10587;Q10587-2	.|.;TEF_HUMAN;.	T|N	79|83;83;113	.|.	.|ENSP00000266304:S113N	A|S	+|+	1|2	0|0	TEF|TEF	40113481|40113481	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.618000|5.618000	0.67722|0.67722	2.616000|2.616000	0.88540|0.88540	0.563000|0.563000	0.77884|0.77884	GCC|AGC		0.587	TEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320692.1		NM_003216		100	81	0	0	0	0.01441	0	100	81		
MAPK11	5600	broad.mit.edu	37	22	50705436	50705436	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr22:50705436C>T	ENST00000330651.6	-	7	637	c.537G>A	c.(535-537)atG>atA	p.M179I	MAPK11_ENST00000495277.1_5'Flank|MAPK11_ENST00000449719.2_Missense_Mutation_p.M71I	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	CATAGCCGGTCATCTCCTCGT	0.657																																					GBM(9;634 739 50668)	uc003bkr.2		NaN																	0				lung(1)|breast(1)	2						c.(535-537)ATG>ATA		mitogen-activated protein kinase 11							71.0	63.0	65.0					22																	50705436		2201	4298	6499	SO:0001583	missense	5600				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr22:50705436C>T	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.537G>A	22.37:g.50705436C>T	ENSP00000333685:p.Met179Ile					MAPK11_uc010hax.2_Missense_Mutation_p.M1I|MAPK11_uc011ars.1_RNA|MAPK11_uc010hay.1_RNA|MAPK11_uc011art.1_3'UTR|MAPK11_uc010haz.2_Missense_Mutation_p.M71I	p.M179I	NM_002751	NP_002742	Q15759	MK11_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	7	595	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	179			Protein kinase.		A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Missense_Mutation	SNP	ENST00000330651.6	37	c.537G>A	CCDS14090.1	.	.	.	.	.	.	.	.	.	.	c	17.51	3.407746	0.62399	.	.	ENSG00000185386	ENST00000330651;ENST00000449719	T;T	0.13538	2.58;2.58	4.96	4.96	0.65561	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.046289	0.85682	U	0.000000	T	0.19446	0.0467	L	0.33339	1.005	0.80722	D	1	B;P	0.42161	0.417;0.772	P;P	0.48304	0.472;0.573	T	0.01228	-1.1412	10	0.87932	D	0	-31.0621	17.0156	0.86418	0.0:1.0:0.0:0.0	.	71;179	B7Z630;Q15759	.;MK11_HUMAN	I	179;71	ENSP00000333685:M179I;ENSP00000406921:M71I	ENSP00000333685:M179I	M	-	3	0	MAPK11	49047563	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	4.672000	0.61597	2.332000	0.79248	0.537000	0.68136	ATG		0.657	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1				12	44	0	0	0	0.010729	0	12	44		
ZNF197	10168	broad.mit.edu	37	3	44685245	44685245	+	Nonsense_Mutation	SNP	G	G	T	rs61751651		TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:44685245G>T	ENST00000396058.1	+	5	2790	c.2623G>T	c.(2623-2625)Gaa>Taa	p.E875*	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Nonsense_Mutation_p.E875*			O14709	ZN197_HUMAN	zinc finger protein 197	875					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AAAAACCTACGAATGTCATGT	0.383																																						uc003cnm.2		NaN																	0				ovary(3)|skin(1)	4						c.(2623-2625)GAA>TAA		zinc finger protein 197 isoform 1							91.0	100.0	97.0					3																	44685245		2203	4300	6503	SO:0001587	stop_gained	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44685245G>T	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.2623G>T	3.37:g.44685245G>T	ENSP00000379370:p.Glu875*					ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	p.E875*	NM_006991	NP_008922	O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	6	2829	+			875			C2H2-type 19.		B2RAH8|Q86VG0	Nonsense_Mutation	SNP	ENST00000396058.1	37	c.2623G>T	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	G	36	5.845867	0.97016	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	.	.	.	3.71	2.8	0.32819	.	0.000000	0.33457	U	0.004888	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	2.4787	0.04582	0.105:0.1935:0.5015:0.2	.	.	.	.	X	875	.	ENSP00000345809:E875X	E	+	1	0	ZNF197	44660249	0.000000	0.05858	1.000000	0.80357	0.917000	0.54804	0.024000	0.13555	1.096000	0.41439	0.557000	0.71058	GAA		0.383	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4		NM_006991		22	44	1	0	7.33532e-06	0.003954	7.87123e-06	22	44		
CCR1	1230	broad.mit.edu	37	3	46245233	46245233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:46245233C>T	ENST00000296140.3	-	2	697	c.572G>A	c.(571-573)aGc>aAc	p.S191N	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	191					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CTCTCGTAGGCTTTCGTGAGG	0.493																																						uc003cph.1		NaN																	0				skin(2)|pancreas(1)	3						c.(571-573)AGC>AAC		chemokine (C-C motif) receptor 1							82.0	81.0	81.0					3																	46245233		2203	4300	6503	SO:0001583	missense	1230				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:46245233C>T		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.572G>A	3.37:g.46245233C>T	ENSP00000296140:p.Ser191Asn					CCR3_uc003cpg.1_Intron	p.S191N	NM_001295	NP_001286	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	643	-			191			Extracellular (Potential).		Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	c.572G>A	CCDS2737.1	.	.	.	.	.	.	.	.	.	.	C	4.617	0.114636	0.08831	.	.	ENSG00000163823	ENST00000296140	T	0.39787	1.06	5.31	-2.01	0.07410	GPCR, rhodopsin-like superfamily (1);	0.910079	0.09542	N	0.788163	T	0.22589	0.0545	N	0.12422	0.21	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.23154	-1.0196	10	0.42905	T	0.14	.	8.2174	0.31521	0.0:0.2112:0.1868:0.6019	.	191	P32246	CCR1_HUMAN	N	191	ENSP00000296140:S191N	ENSP00000296140:S191N	S	-	2	0	CCR1	46220237	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.272000	0.01165	-0.167000	0.10871	0.643000	0.83706	AGC		0.493	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2		NM_001295		21	37	0	0	0	0.014323	0	21	37		
LTF	4057	broad.mit.edu	37	3	46484956	46484956	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:46484956T>C	ENST00000231751.4	-	13	1926	c.1631A>G	c.(1630-1632)tAc>tGc	p.Y544C	LTF_ENST00000426532.2_Missense_Mutation_p.Y500C|LTF_ENST00000417439.1_Missense_Mutation_p.Y542C|LTF_ENST00000493056.1_5'Flank	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	544	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		GTAGCCGTAGTATCTCTCGTT	0.542																																						uc003cpq.2		NaN																	0				central_nervous_system(2)|ovary(1)|lung(1)	4						c.(1630-1632)TAC>TGC		lactotransferrin precursor	Pefloxacin(DB00487)						237.0	220.0	226.0					3																	46484956		2203	4296	6499	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46484956T>C		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1631A>G	3.37:g.46484956T>C	ENSP00000231751:p.Tyr544Cys					LTF_uc003fzr.2_Missense_Mutation_p.Y500C|LTF_uc010hjh.2_Missense_Mutation_p.Y542C|LTF_uc003cpr.2_Missense_Mutation_p.Y531C	p.Y544C	NM_002343	NP_002334	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	13	1669	-			544			Transferrin-like 2.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.1631A>G	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.274978	0.59649	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	H	0.98738	4.315	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.79184	-0.1908	10	0.87932	D	0	-30.3281	13.551	0.61732	0.0:0.0:0.0:1.0	.	542;531;544	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	C	544;500;542;531	ENSP00000231751:Y544C;ENSP00000405719:Y500C;ENSP00000405546:Y542C;ENSP00000397427:Y531C	ENSP00000231751:Y544C	Y	-	2	0	LTF	46459960	1.000000	0.71417	0.958000	0.39756	0.345000	0.29048	5.325000	0.65869	2.155000	0.67459	0.482000	0.46254	TAC		0.542	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2		NM_002343		45	150	0	0	0	0.01441	0	45	150		
WDR6	11180	broad.mit.edu	37	3	49051677	49051677	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:49051677C>T	ENST00000608424.1	+	3	2656	c.2617C>T	c.(2617-2619)Ccc>Tcc	p.P873S	WDR6_ENST00000448293.1_Missense_Mutation_p.P822S|WDR6_ENST00000415265.2_Missense_Mutation_p.P321S|WDR6_ENST00000395474.3_Missense_Mutation_p.P903S			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	873					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ACTTGACCAGCCCGGCCTTGG	0.577											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cvj.2		NaN																	0				central_nervous_system(1)	1						c.(2707-2709)CCC>TCC		WD repeat domain 6 protein							72.0	67.0	69.0					3																	49051677		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49051677C>T	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2617C>T	3.37:g.49051677C>T	ENSP00000477389:p.Pro873Ser		OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	959	WDR6_uc011bby.1_Missense_Mutation_p.P351S|WDR6_uc010hkn.2_Missense_Mutation_p.P847S|WDR6_uc011bbz.1_Missense_Mutation_p.P822S	p.P903S	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	3	2845	+			873			WD 13.		B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.2707C>T		.	.	.	.	.	.	.	.	.	.	C	10.75	1.438976	0.25900	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T	0.60040	0.22;0.23	5.58	3.43	0.39272	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.378699	0.29362	N	0.012378	T	0.36663	0.0975	L	0.29908	0.895	0.09310	N	0.999999	P;B;B	0.39480	0.675;0.057;0.057	B;B;B	0.35413	0.202;0.015;0.015	T	0.25047	-1.0143	10	0.06891	T	0.86	-18.4429	10.1815	0.42970	0.0:0.7438:0.1335:0.1227	.	321;873;822	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	S	903;321;822	ENSP00000378857:P903S;ENSP00000413432:P822S	ENSP00000378857:P903S	P	+	1	0	WDR6	49026681	0.000000	0.05858	0.828000	0.32881	0.082000	0.17680	-0.410000	0.07151	1.334000	0.45468	0.555000	0.69702	CCC		0.577	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1				24	29	0	0	0	0.009535	0	24	29		
DNAH1	25981	broad.mit.edu	37	3	52412779	52412779	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:52412779G>T	ENST00000420323.2	+	47	7621	c.7360G>T	c.(7360-7362)Gac>Tac	p.D2454Y		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2454					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTCATGGCTGACCCGGCCAA	0.627																																						uc011bef.1		NaN																	0				large_intestine(3)	3						c.(7360-7362)GAC>TAC		dynein, axonemal, heavy chain 1							97.0	106.0	103.0					3																	52412779		2170	4277	6447	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52412779G>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7360G>T	3.37:g.52412779G>T	ENSP00000401514:p.Asp2454Tyr						p.D2454Y	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	47	7621	+			2454					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.7360G>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.697484	0.30142	.	.	ENSG00000114841	ENST00000420323	T	0.35973	1.28	5.11	2.26	0.28386	.	0.983377	0.08282	N	0.969825	T	0.53997	0.1831	M	0.76328	2.33	0.09310	N	1	D	0.58970	0.984	P	0.60609	0.877	T	0.32402	-0.9908	10	0.66056	D	0.02	.	6.6738	0.23083	0.2287:0.1266:0.6447:0.0	.	2454	C9JXH6	.	Y	2454	ENSP00000401514:D2454Y	ENSP00000401514:D2454Y	D	+	1	0	DNAH1	52387819	0.990000	0.36364	0.135000	0.22099	0.298000	0.27526	2.053000	0.41326	0.285000	0.22329	0.563000	0.77884	GAC		0.627	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1		NM_015512		68	62	1	0	6.15735e-50	0.01441	8.31596e-50	68	62		
STAB1	23166	broad.mit.edu	37	3	52538860	52538860	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:52538860C>A	ENST00000321725.6	+	12	1421	c.1345C>A	c.(1345-1347)Cag>Aag	p.Q449K		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	449	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCTGGCCGGGCAGGAGATCAC	0.607																																						uc003dej.2		NaN																	0				large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(1345-1347)CAG>AAG		stabilin 1 precursor							83.0	77.0	79.0					3																	52538860		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52538860C>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1345C>A	3.37:g.52538860C>A	ENSP00000312946:p.Gln449Lys					STAB1_uc003dei.1_Missense_Mutation_p.Q449K	p.Q449K	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	12	1419	+			449			Extracellular (Potential).|FAS1 1.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.1345C>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	0.534	-0.856522	0.02630	.	.	ENSG00000010327	ENST00000321725	D	0.90261	-2.64	4.84	2.85	0.33270	FAS1 domain (4);	0.422230	0.24136	N	0.041204	D	0.83381	0.5242	L	0.59436	1.845	0.33130	D	0.542981	B;P	0.46859	0.097;0.885	B;B	0.39805	0.026;0.31	T	0.82548	-0.0402	10	0.02654	T	1	.	7.3269	0.26560	0.194:0.6184:0.1876:0.0	.	449;449	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	K	449	ENSP00000312946:Q449K	ENSP00000312946:Q449K	Q	+	1	0	STAB1	52513900	0.991000	0.36638	0.850000	0.33497	0.130000	0.20726	0.529000	0.23019	1.337000	0.45525	0.561000	0.74099	CAG		0.607	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2		NM_015136		11	32	1	0	0.000673444	0.008291	0.00069412	11	32		
ARHGAP31	57514	broad.mit.edu	37	3	119120886	119120886	+	Silent	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:119120886G>A	ENST00000264245.4	+	10	1819	c.1287G>A	c.(1285-1287)ccG>ccA	p.P429P		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	429					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGCCCCCACCGGAACAGCTGA	0.617																																					Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3		NaN																	0				ovary(2)	2						c.(1285-1287)CCG>CCA		Cdc42 GTPase-activating protein							48.0	57.0	54.0					3																	119120886		1960	4159	6119	SO:0001819	synonymous_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119120886G>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1287G>A	3.37:g.119120886G>A							p.P429P	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			10	1819	+			429					Q9ULL6	Silent	SNP	ENST00000264245.4	37	c.1287G>A	CCDS43135.1																																																																																				0.617	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2				15	46	0	0	0	0.003163	0	15	46		
EPHB1	2047	broad.mit.edu	37	3	134968233	134968233	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:134968233G>A	ENST00000398015.3	+	15	3116	c.2746G>A	c.(2746-2748)Gtg>Atg	p.V916M	EPHB1_ENST00000493838.1_Missense_Mutation_p.V477M	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	916	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTTTACCACCGTGGATGACTG	0.587																																						uc003eqt.2		NaN																	0				lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(2746-2748)GTG>ATG		ephrin receptor EphB1 precursor							90.0	91.0	90.0					3																	134968233		2087	4226	6313	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134968233G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2746G>A	3.37:g.134968233G>A	ENSP00000381097:p.Val916Met					EPHB1_uc003equ.2_Missense_Mutation_p.V477M	p.V916M	NM_004441	NP_004432	P54762	EPHB1_HUMAN			15	2966	+			916			Cytoplasmic (Potential).|SAM.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2746G>A	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174207	0.94807	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.69561	-0.41;-0.41	5.43	5.43	0.79202	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.86727	0.6002	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89189	0.3549	10	0.87932	D	0	.	19.4372	0.94801	0.0:0.0:1.0:0.0	.	916	P54762	EPHB1_HUMAN	M	916;477	ENSP00000381097:V916M;ENSP00000419574:V477M	ENSP00000381097:V916M	V	+	1	0	EPHB1	136450923	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.827000	0.97445	0.650000	0.86243	GTG		0.587	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1		NM_004441		41	33	0	0	0	0.009718	0	41	33		
TBCCD1	55171	broad.mit.edu	37	3	186276258	186276258	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:186276258C>T	ENST00000424280.1	-	3	919	c.440G>A	c.(439-441)aGa>aAa	p.R147K	TBCCD1_ENST00000338733.5_Missense_Mutation_p.R147K|TBCCD1_ENST00000446782.1_Missense_Mutation_p.R51K	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	147					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)		p.R147I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AGATTTGTTTCTGGGACTGGG	0.408																																						uc003fqg.2		NaN																	1	Substitution - Missense(1)		kidney(1)	large_intestine(1)|ovary(1)	2						c.(439-441)AGA>AAA		TBCC domain containing 1							140.0	139.0	139.0					3																	186276258		2203	4300	6503	SO:0001583	missense	55171				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding	g.chr3:186276258C>T	BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.440G>A	3.37:g.186276258C>T	ENSP00000411253:p.Arg147Lys					TBCCD1_uc011bry.1_Missense_Mutation_p.R147K|TBCCD1_uc003fqh.2_Missense_Mutation_p.R51K	p.R147K	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)	3	569	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		147					B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	c.440G>A	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929785	0.52759	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782;ENST00000413695;ENST00000430560	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;0.66	5.24	4.37	0.52481	.	0.093129	0.64402	D	0.000008	T	0.67268	0.2875	L	0.57536	1.79	0.48341	D	0.999638	P;P	0.50156	0.673;0.932	B;P	0.45037	0.38;0.467	T	0.64411	-0.6414	10	0.20519	T	0.43	-14.4751	12.1604	0.54101	0.0:0.9158:0.0:0.0842	.	51;147	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	K	147;147;51;147;131	ENSP00000411253:R147K;ENSP00000341652:R147K;ENSP00000397091:R51K;ENSP00000391109:R147K;ENSP00000407506:R131K	ENSP00000341652:R147K	R	-	2	0	TBCCD1	187758952	1.000000	0.71417	0.988000	0.46212	0.353000	0.29299	3.369000	0.52365	1.348000	0.45733	-0.137000	0.14449	AGA		0.408	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1		NM_018138		19	81	0	0	0	0.014323	0	19	81		
TP63	8626	broad.mit.edu	37	3	189586386	189586386	+	Missense_Mutation	SNP	G	G	A	rs113993967		TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:189586386G>A	ENST00000264731.3	+	8	1099	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	TP63_ENST00000392461.3_Missense_Mutation_p.R243Q|TP63_ENST00000437221.1_Missense_Mutation_p.R243Q|TP63_ENST00000392463.2_Missense_Mutation_p.R243Q|TP63_ENST00000392460.3_Missense_Mutation_p.R337Q|TP63_ENST00000382063.4_Missense_Mutation_p.R252Q|TP63_ENST00000440651.2_Missense_Mutation_p.R337Q|TP63_ENST00000418709.2_Missense_Mutation_p.R337Q|TP63_ENST00000354600.5_Missense_Mutation_p.R243Q|TP63_ENST00000449992.1_Missense_Mutation_p.R158Q|TP63_ENST00000320472.5_Missense_Mutation_p.R337Q|TP63_ENST00000456148.1_Missense_Mutation_p.R243Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	337			R -> Q (in ADULT syndrome; confers novel transcription activation capacity on isoform 6). {ECO:0000269|PubMed:11929852}.		apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.R337L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GTCCTGGGCCGACGCTGCTTT	0.483										HNSCC(45;0.13)																												uc003fry.2		NaN																	1	Substitution - Missense(1)		endometrium(1)	skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	GRCh37	CM020797	TP63	M	rs113993967	c.(1009-1011)CGA>CAA		tumor protein p63 isoform 1							61.0	60.0	60.0					3																	189586386		2203	4300	6503	SO:0001583	missense	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189586386G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1010G>A	3.37:g.189586386G>A	ENSP00000264731:p.Arg337Gln	HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.R337Q|TP63_uc003frz.2_Missense_Mutation_p.R337Q|TP63_uc010hzc.1_Missense_Mutation_p.R337Q|TP63_uc003fsa.2_Missense_Mutation_p.R243Q|TP63_uc003fsb.2_Missense_Mutation_p.R243Q|TP63_uc003fsc.2_Missense_Mutation_p.R243Q|TP63_uc003fsd.2_Missense_Mutation_p.R243Q|TP63_uc010hzd.1_Missense_Mutation_p.R158Q|TP63_uc003fse.1_Missense_Mutation_p.R218Q	p.R337Q	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	8	1099	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		337					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.1010G>A	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216381	0.95104	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	5.83	5.83	0.93111	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	M	0.64170	1.965	0.80722	A	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.77557	0.977;0.977;0.977;0.966;0.966;0.977;0.98;0.99;0.986;0.977	D	0.97677	1.0170	8	.	.	.	-2.8613	19.1141	0.93331	0.0:0.0:1.0:0.0	.	158;337;337;243;243;243;243;337;337;337	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	Q	337;337;337;337;337;252;243;243;243;243;158;243	ENSP00000264731:R337Q;ENSP00000407144:R337Q;ENSP00000317510:R337Q;ENSP00000376253:R337Q;ENSP00000394337:R337Q;ENSP00000371495:R252Q;ENSP00000346614:R243Q;ENSP00000392488:R243Q;ENSP00000376256:R243Q;ENSP00000376254:R243Q;ENSP00000387839:R158Q;ENSP00000389485:R243Q	.	R	+	2	0	TP63	191069080	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	9.700000	0.98707	2.749000	0.94314	0.655000	0.94253	CGA		0.483	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1		NM_003722		6	17	0	0	0	0.001984	0	6	17		
IL1RAP	3556	broad.mit.edu	37	3	190366314	190366314	+	Silent	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:190366314G>A	ENST00000412504.2	+	11	1785	c.1533G>A	c.(1531-1533)gtG>gtA	p.V511V	IL1RAP_ENST00000072516.3_Silent_p.V511V|IL1RAP_ENST00000447382.1_Silent_p.V511V|IL1RAP_ENST00000439062.1_Silent_p.V511V|IL1RAP_ENST00000317757.3_Intron|IL1RAP_ENST00000443369.2_Intron			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	511	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AAACGAAGGTGAAAGAGCTGA	0.502																																						uc003fsm.1		NaN																	0				ovary(1)	1						c.(1531-1533)GTG>GTA		interleukin 1 receptor accessory protein isoform							108.0	109.0	109.0					3																	190366314		2203	4300	6503	SO:0001819	synonymous_variant	3556				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190366314G>A	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1533G>A	3.37:g.190366314G>A						IL1RAP_uc010hzg.1_Silent_p.V511V|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Silent_p.V511V|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron	p.V511V	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	12	1739	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		511			Cytoplasmic (Potential).|TIR.		B1NLD0|D3DNW0|O14915|Q86WJ7	Silent	SNP	ENST00000412504.2	37	c.1533G>A	CCDS3298.1																																																																																				0.502	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1				15	68	0	0	0	0.006122	0	15	68		
TMEM175	84286	broad.mit.edu	37	4	951684	951684	+	Silent	SNP	G	G	T	rs141810982	byFrequency	TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr4:951684G>T	ENST00000264771.4	+	11	1100	c.915G>T	c.(913-915)gcG>gcT	p.A305A	TMEM175_ENST00000508204.1_Silent_p.A223A|TMEM175_ENST00000515740.1_Silent_p.A189A	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	305						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCCTGAGTGCGACCGGGCCGC	0.622																																						uc003gbq.2		NaN																	0					0						c.(913-915)GCG>GCT		transmembrane protein 175							47.0	50.0	49.0					4																	951684		2203	4300	6503	SO:0001819	synonymous_variant	84286					integral to membrane		g.chr4:951684G>T	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.915G>T	4.37:g.951684G>T						TMEM175_uc003gbr.2_Silent_p.A223A|TMEM175_uc003gbu.2_Silent_p.A223A|TMEM175_uc003gbs.2_Silent_p.A188A|TMEM175_uc003gbt.2_Silent_p.A188A|TMEM175_uc003gbv.2_Silent_p.A188A|TMEM175_uc010ibm.2_Silent_p.A121A	p.A305A	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		11	1013	+			305					D3DVN4|Q8ND13	Silent	SNP	ENST00000264771.4	37	c.915G>T	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	G	0.317	-0.964318	0.02249	.	.	ENSG00000127419	ENST00000505148	.	.	.	4.82	-4.14	0.03892	.	.	.	.	.	T	0.27205	0.0667	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.33523	-0.9865	4	.	.	.	-1.567	6.3333	0.21282	0.4993:0.2613:0.2394:0.0	.	.	.	.	Y	142	.	.	D	+	1	0	TMEM175	941684	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.028000	0.12350	-0.654000	0.05394	0.491000	0.48974	GAC		0.622	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2		NM_032326		46	47	1	0	2.43468e-25	0.01441	3.16105e-25	46	47		
WHSC1	7468	broad.mit.edu	37	4	1936889	1936889	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr4:1936889A>G	ENST00000382895.3	+	9	2005	c.1574A>G	c.(1573-1575)aAa>aGa	p.K525R	WHSC1_ENST00000503128.1_Missense_Mutation_p.K525R|WHSC1_ENST00000398261.1_Missense_Mutation_p.K525R|WHSC1_ENST00000514045.1_Missense_Mutation_p.K525R|WHSC1_ENST00000508803.1_Missense_Mutation_p.K525R|WHSC1_ENST00000382892.2_Missense_Mutation_p.K525R|WHSC1_ENST00000382891.5_Missense_Mutation_p.K525R|WHSC1_ENST00000420906.2_Missense_Mutation_p.K525R	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	525					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AATGGGAAAAAAAGAAACCAC	0.468			T	IGH@	MM																																	uc003gdz.3		NaN		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(1573-1575)AAA>AGA		Wolf-Hirschhorn syndrome candidate 1 protein							103.0	99.0	100.0					4																	1936889		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1936889A>G	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1574A>G	4.37:g.1936889A>G	ENSP00000372351:p.Lys525Arg					WHSC1_uc003geb.3_Missense_Mutation_p.K525R|WHSC1_uc003gec.3_Missense_Mutation_p.K525R|WHSC1_uc003ged.3_Missense_Mutation_p.K525R|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdy.1_Missense_Mutation_p.K525R|WHSC1_uc010icd.1_Missense_Mutation_p.K525R|WHSC1_uc003gea.1_Missense_Mutation_p.K525R|WHSC1_uc010ice.1_Missense_Mutation_p.K525R|WHSC1_uc003geh.1_Missense_Mutation_p.K525R	p.K525R	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	7	1750	+		all_epithelial(65;1.34e-05)	525					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.1574A>G	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.906986	0.52333	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000398261	D;T;D;D;T;D;T;T	0.95377	-3.69;0.9;-3.69;-3.69;0.9;-3.69;0.89;0.89	5.7	4.51	0.55191	.	0.000000	0.64402	D	0.000011	D	0.91593	0.7344	L	0.43152	1.355	0.80722	D	1	B;B;B	0.30511	0.033;0.282;0.033	B;B;B	0.25140	0.023;0.058;0.023	D	0.88133	0.2839	10	0.38643	T	0.18	.	10.9808	0.47492	0.924:0.0:0.076:0.0	.	525;525;525	O96028-3;O96028;O96028-5	.;NSD2_HUMAN;.	R	525	ENSP00000423972:K525R;ENSP00000421681:K525R;ENSP00000372347:K525R;ENSP00000372348:K525R;ENSP00000399251:K525R;ENSP00000372351:K525R;ENSP00000425761:K525R;ENSP00000381311:K525R	ENSP00000308780:K525R	K	+	2	0	WHSC1	1906687	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.257000	0.43240	0.970000	0.38263	0.524000	0.50904	AAA		0.468	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2		NM_133330		6	19	0	0	0	0.001168	0	6	19		
NOA1	84273	broad.mit.edu	37	4	57842717	57842717	+	Silent	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr4:57842717G>T	ENST00000264230.4	-	1	2272	c.1035C>A	c.(1033-1035)ggC>ggA	p.G345G	POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000381227.1_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	345	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										CGTTGGTGGCGCCCACTAAGT	0.607																																						uc003hck.2		NaN																	0				ovary(1)|breast(1)	2						c.(1033-1035)GGC>GGA		hypothetical protein LOC84273							81.0	81.0	81.0					4																	57842717		2203	4300	6503	SO:0001819	synonymous_variant	84273						GTP binding	g.chr4:57842717G>T	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1035C>A	4.37:g.57842717G>T						POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	p.G345G	NM_032313	NP_115689	Q8NC60	CD014_HUMAN			1	1110	-	Glioma(25;0.08)|all_neural(26;0.181)		345					Q8N7L6|Q9BSQ9	Silent	SNP	ENST00000264230.4	37	c.1035C>A	CCDS3510.1																																																																																				0.607	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2		NM_032313		14	40	1	0	1.52009e-12	0.003163	1.77722e-12	14	40		
BANK1	55024	broad.mit.edu	37	4	102946511	102946511	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr4:102946511C>G	ENST00000322953.4	+	9	1713	c.1439C>G	c.(1438-1440)tCt>tGt	p.S480C	BANK1_ENST00000428908.1_Missense_Mutation_p.S347C|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000504592.1_Missense_Mutation_p.S465C|BANK1_ENST00000444316.2_Missense_Mutation_p.S450C|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000508653.1_Missense_Mutation_p.S347C	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	480					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AGTGAGAGTTCTGAAGACCAG	0.493																																						uc003hvy.3		NaN																	0				ovary(2)|skin(1)	3						c.(1438-1440)TCT>TGT		B-cell scaffold protein with ankyrin repeats 1							213.0	175.0	188.0					4																	102946511		2203	4300	6503	SO:0001583	missense	55024				B cell activation			g.chr4:102946511C>G	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1439C>G	4.37:g.102946511C>G	ENSP00000320509:p.Ser480Cys					BANK1_uc003hvx.3_Missense_Mutation_p.S465C|BANK1_uc010ill.2_Missense_Mutation_p.S347C|BANK1_uc003hvz.3_Missense_Mutation_p.S450C	p.S480C	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	9	1713	+		Hepatocellular(203;0.217)	480					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.1439C>G	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800596	0.70567	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	3.82	2.04	0.26737	.	0.695530	0.13263	N	0.401165	T	0.57403	0.2051	L	0.46157	1.445	0.09310	N	1	D;D;D	0.65815	0.99;0.995;0.995	P;P;P	0.55824	0.785;0.785;0.785	T	0.43475	-0.9389	10	0.42905	T	0.14	.	4.4779	0.11753	0.0:0.6271:0.0:0.3729	.	347;480;465	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	C	465;480;347;347;450	ENSP00000421443:S465C;ENSP00000320509:S480C;ENSP00000412748:S347C;ENSP00000422314:S347C;ENSP00000388817:S450C	ENSP00000320509:S480C	S	+	2	0	BANK1	103165534	0.013000	0.17824	0.107000	0.21349	0.929000	0.56500	0.627000	0.24506	0.917000	0.36895	0.591000	0.81541	TCT		0.493	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1		NM_017935		14	56	0	0	0	0.00499	0	14	56		
ANK2	287	broad.mit.edu	37	4	114278218	114278218	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr4:114278218A>G	ENST00000357077.4	+	38	8497	c.8444A>G	c.(8443-8445)cAa>cGa	p.Q2815R	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.Q2782R|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2815					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTAGCTCTCCAAGGCACTCAT	0.463																																						uc003ibe.3		NaN																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(8443-8445)CAA>CGA		ankyrin 2 isoform 1							94.0	92.0	93.0					4																	114278218		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114278218A>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8444A>G	4.37:g.114278218A>G	ENSP00000349588:p.Gln2815Arg					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.Q117R|ANK2_uc011cgb.1_Missense_Mutation_p.Q2830R	p.Q2815R	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8544	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2782					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.8444A>G	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.886945	0.33348	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.66460	-0.2;-0.21	5.76	3.26	0.37387	.	0.827295	0.10546	N	0.662042	T	0.57888	0.2084	L	0.60455	1.87	0.09310	N	0.999999	B;B	0.32245	0.361;0.302	B;B	0.27380	0.036;0.079	T	0.46048	-0.9219	9	.	.	.	.	6.2321	0.20740	0.7236:0.1348:0.1416:0.0	.	2782;2815	Q01484;Q01484-4	ANK2_HUMAN;.	R	2815;2782	ENSP00000349588:Q2815R;ENSP00000264366:Q2782R	.	Q	+	2	0	ANK2	114497667	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.212000	0.17497	0.418000	0.25898	0.533000	0.62120	CAA		0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		NM_001148		30	36	0	0	0	0.010818	0	30	36		
GUCY1A3	2982	broad.mit.edu	37	4	156631721	156631721	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr4:156631721C>T	ENST00000296518.7	+	6	613	c.404C>T	c.(403-405)tCt>tTt	p.S135F	GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S135F|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S135F|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S135F|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S135F|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S135F			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	135					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATCAAAGAATCTCTTGGTGAA	0.383																																						uc003iov.2		NaN																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(403-405)TCT>TTT		guanylate cyclase 1, soluble, alpha 3 isoform A							70.0	77.0	74.0					4																	156631721		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156631721C>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.404C>T	4.37:g.156631721C>T	ENSP00000296518:p.Ser135Phe					GUCY1A3_uc003iou.2_Missense_Mutation_p.S135F|GUCY1A3_uc010iqc.2_Missense_Mutation_p.S135F|GUCY1A3_uc003iow.2_Missense_Mutation_p.S135F|GUCY1A3_uc010iqd.2_Missense_Mutation_p.S134F|GUCY1A3_uc003iox.2_Missense_Mutation_p.S135F|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.S135F|GUCY1A3_uc010iqe.2_Intron|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.S135F	p.S135F	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	7	940	+	all_hematologic(180;0.24)	Renal(120;0.0854)	135	VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1).				D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.404C>T	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687925	0.88639	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.55	5.55	0.83447	Heme-NO binding (1);	0.000000	0.64402	D	0.000007	T	0.56321	0.1977	L	0.54323	1.7	0.58432	D	0.999999	P;P;P	0.41978	0.767;0.767;0.767	P;P;P	0.54026	0.633;0.633;0.74	T	0.41520	-0.9504	10	0.30078	T	0.28	.	19.8522	0.96745	0.0:1.0:0.0:0.0	.	135;135;135	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	F	135	ENSP00000424361:S135F;ENSP00000421493:S135F;ENSP00000426968:S135F;ENSP00000412201:S135F;ENSP00000296518:S135F;ENSP00000426040:S135F	ENSP00000296518:S135F	S	+	2	0	GUCY1A3	156851171	1.000000	0.71417	0.943000	0.38184	0.958000	0.62258	7.168000	0.77570	2.769000	0.95229	0.637000	0.83480	TCT		0.383	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2				30	25	0	0	0	0.005524	0	30	25		
AADAT	51166	broad.mit.edu	37	4	170988519	170988519	+	Silent	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr4:170988519T>C	ENST00000337664.4	-	9	1197	c.921A>G	c.(919-921)ctA>ctG	p.L307L	AADAT_ENST00000509167.1_Silent_p.L311L|AADAT_ENST00000515480.1_Silent_p.L307L|AADAT_ENST00000353187.2_Silent_p.L307L	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	307					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		CCCATTCGTGTAGAAGCTGTG	0.343																																						uc003isr.2		NaN																	0					0						c.(919-921)CTA>CTG		kynurenine aminotransferase II	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						84.0	82.0	83.0					4																	170988519		2203	4300	6503	SO:0001819	synonymous_variant	51166				2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity	g.chr4:170988519T>C	AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"""kynurenine aminotransferase II"", ""L kynurenine/alpha aminoadipate aminotransferase"""	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.921A>G	4.37:g.170988519T>C						AADAT_uc003iss.2_Silent_p.L307L|AADAT_uc003ist.2_Silent_p.L311L	p.L307L	NM_016228	NP_057312	Q8N5Z0	AADAT_HUMAN		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	9	1263	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	307					B3KP84|Q9UL02	Silent	SNP	ENST00000337664.4	37	c.921A>G	CCDS3814.1																																																																																				0.343	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1		NM_016228		25	31	0	0	0	0.012213	0	25	31		
FAT1	2195	broad.mit.edu	37	4	187525600	187525600	+	Silent	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr4:187525600C>A	ENST00000441802.2	-	18	10688	c.10479G>T	c.(10477-10479)ccG>ccT	p.P3493P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3493	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGACTCCTTGCGGGTTAACTT	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NaN																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(10477-10479)CCG>CCT		FAT tumor suppressor 1 precursor							108.0	104.0	106.0					4																	187525600		1920	4135	6055	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187525600C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10479G>T	4.37:g.187525600C>A		HNSCC(5;0.00058)					p.P3493P	NM_005245	NP_005236	Q14517	FAT1_HUMAN			18	10667	-			3493			Extracellular (Potential).|Cadherin 32.			Silent	SNP	ENST00000441802.2	37	c.10479G>T	CCDS47177.1																																																																																				0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245		12	31	1	0	1.3612e-06	0.003163	1.49478e-06	12	31		
LRRC14B	389257	broad.mit.edu	37	5	192543	192543	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr5:192543C>A	ENST00000328278.3	+	1	918	c.890C>A	c.(889-891)aCg>aAg	p.T297K		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	297										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						AAGATCCCGACGCTGCTTGGG	0.657																																						uc003jal.1		NaN																	0				skin(1)	1						c.(889-891)ACG>AAG		leucine rich repeat containing 14B							8.0	9.0	9.0					5																	192543		2156	4260	6416	SO:0001583	missense	389257							g.chr5:192543C>A		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.890C>A	5.37:g.192543C>A	ENSP00000327675:p.Thr297Lys						p.T297K	NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN			1	918	+			297			LRR 1.			Missense_Mutation	SNP	ENST00000328278.3	37	c.890C>A	CCDS47184.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.785184	0.00628	.	.	ENSG00000185028	ENST00000328278	T	0.50548	0.74	5.18	-1.02	0.10135	.	0.338156	0.38164	N	0.001798	T	0.15349	0.0370	N	0.02403	-0.565	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18493	-1.0335	10	0.15952	T	0.53	.	4.5632	0.12170	0.3027:0.5084:0.0868:0.1021	.	297	A6NHZ5	LR14B_HUMAN	K	297	ENSP00000327675:T297K	ENSP00000327675:T297K	T	+	2	0	LRRC14B	245543	0.012000	0.17670	0.000000	0.03702	0.350000	0.29205	1.208000	0.32345	-0.440000	0.07211	0.462000	0.41574	ACG		0.657	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2		NM_001080478		3	4	1	0	0.000602214	0.000602	0.000623438	3	4		
TERT	7015	broad.mit.edu	37	5	1294371	1294371	+	Silent	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr5:1294371G>A	ENST00000310581.5	-	2	687	c.630C>T	c.(628-630)gcC>gcT	p.A210A	TERT_ENST00000522877.1_5'Flank|TERT_ENST00000296820.5_Silent_p.A210A|TERT_ENST00000334602.6_Silent_p.A210A|TERT_ENST00000508104.2_Silent_p.A210A	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	210	RNA-interacting domain 1.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GGGGGACCCCGGCCTCCCTGA	0.746									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													uc003jcb.1		NaN																	0				lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12						c.(628-630)GCC>GCT		telomerase reverse transcriptase isoform 1							5.0	6.0	6.0					5																	1294371		2022	4081	6103	SO:0001819	synonymous_variant	7015	TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1294371G>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.630C>T	5.37:g.1294371G>A						TERT_uc003jca.1_Silent_p.A210A|TERT_uc003jcc.1_Silent_p.A210A|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	p.A210A	NM_198253	NP_937983	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	688	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		210			RNA-interacting domain 1.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	ENST00000310581.5	37	c.630C>T	CCDS3861.2																																																																																				0.746	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2				4	1	0	0	0	0.009096	0	4	1		
PDZD2	23037	broad.mit.edu	37	5	32059421	32059421	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr5:32059421C>G	ENST00000438447.1	+	13	2665	c.2277C>G	c.(2275-2277)agC>agG	p.S759R	PDZD2_ENST00000282493.3_Missense_Mutation_p.S759R			O15018	PDZD2_HUMAN	PDZ domain containing 2	759	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACATTCACAGCCTTGCTCCAG	0.468																																						uc003jhl.2		NaN																	0				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(2275-2277)AGC>AGG		PDZ domain containing 2							100.0	84.0	89.0					5																	32059421		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32059421C>G	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2277C>G	5.37:g.32059421C>G	ENSP00000402033:p.Ser759Arg					PDZD2_uc003jhm.2_Missense_Mutation_p.S759R|PDZD2_uc011cnx.1_Missense_Mutation_p.S585R	p.S759R	NM_178140	NP_835260	O15018	PDZD2_HUMAN			13	2665	+			759			PDZ 4.		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.2277C>G	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419047	0.62622	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.27557	1.66;1.66	5.79	3.09	0.35607	PDZ/DHR/GLGF (4);	0.000000	0.56097	D	0.000038	T	0.36991	0.0987	N	0.24115	0.695	0.43326	D	0.995355	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.06356	-1.0831	10	0.46703	T	0.11	.	9.291	0.37786	0.0:0.7665:0.0:0.2335	.	585;759	B4E3P2;O15018	.;PDZD2_HUMAN	R	759;578;759	ENSP00000402033:S759R;ENSP00000282493:S759R	ENSP00000282493:S759R	S	+	3	2	PDZD2	32095178	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.006000	0.29847	0.385000	0.24970	-0.136000	0.14681	AGC		0.468	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1				16	15	0	0	0	0.007413	0	16	15		
NIM1K	167359	broad.mit.edu	37	5	43245942	43245942	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr5:43245942G>A	ENST00000512796.1	+	2	1564	c.65G>A	c.(64-66)cGc>cAc	p.R22H	NIM1_ENST00000326035.2_Missense_Mutation_p.R22H			Q8IY84	NIM1_HUMAN		22					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R22H(1)									TGGGATCGGCGCGACAGTGTA	0.597																																						uc003jno.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9						c.(64-66)CGC>CAC		serine/threonine-protein kinase NIM1							118.0	111.0	113.0					5																	43245942		2203	4300	6503	SO:0001583	missense	167359						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:43245942G>A																												ENST00000512796.1:c.65G>A	5.37:g.43245942G>A	ENSP00000420849:p.Arg22His						p.R22H	NM_153361	NP_699192	Q8IY84	NIM1_HUMAN			2	946	+			22					B3KVM1	Missense_Mutation	SNP	ENST00000512796.1	37	c.65G>A	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.512983	0.64522	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.72505	-0.66;-0.66	5.38	4.51	0.55191	.	0.269330	0.30714	N	0.009024	T	0.53610	0.1807	L	0.34521	1.04	0.36473	D	0.867396	D	0.54601	0.967	B	0.39660	0.306	T	0.59705	-0.7404	9	.	.	.	.	6.7077	0.23260	0.3032:0.0:0.6968:0.0	.	22	Q8IY84	NIM1_HUMAN	H	22	ENSP00000313572:R22H;ENSP00000420849:R22H	.	R	+	2	0	AC114947.1	43281699	1.000000	0.71417	0.971000	0.41717	0.953000	0.61014	5.503000	0.66962	1.277000	0.44412	0.650000	0.86243	CGC		0.597	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1				75	57	0	0	0	0.01441	0	75	57		
RGS7BP	401190	broad.mit.edu	37	5	63871635	63871635	+	Missense_Mutation	SNP	C	C	T	rs202031234		TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr5:63871635C>T	ENST00000334025.2	+	3	693	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	RGS7BP_ENST00000508162.1_3'UTR|RNU6-294P_ENST00000364999.1_RNA	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	123					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		AGAAATCTGTCGGCTTTACAT	0.433																																						uc003jtj.2		NaN																	0					0						c.(367-369)CGG>TGG		regulator of G-protein signaling 7 binding							99.0	95.0	96.0					5																	63871635		2203	4300	6503	SO:0001583	missense	401190				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane		g.chr5:63871635C>T	BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"""regulator of G-protein signalling 7 binding protein"""			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.367C>T	5.37:g.63871635C>T	ENSP00000334851:p.Arg123Trp					RGS7BP_uc011cqu.1_5'UTR	p.R123W	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN		Lung(70;0.147)	3	367	+		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)	123					B7Z3X1	Missense_Mutation	SNP	ENST00000334025.2	37	c.367C>T	CCDS34170.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906287	0.72868	.	.	ENSG00000186479	ENST00000334025	T	0.44881	0.91	5.91	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.52645	0.1747	L	0.34521	1.04	0.58432	D	0.999994	D	0.89917	1.0	D	0.83275	0.996	T	0.57189	-0.7854	10	0.72032	D	0.01	-12.1215	13.8956	0.63770	0.4198:0.5802:0.0:0.0	.	123	Q6MZT1	R7BP_HUMAN	W	123	ENSP00000334851:R123W	ENSP00000334851:R123W	R	+	1	2	RGS7BP	63907391	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	1.708000	0.37899	1.487000	0.48415	0.655000	0.94253	CGG		0.433	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368464.1		NM_001029875		25	13	0	0	0	0.007291	0	25	13		
PCDHA11	56138	broad.mit.edu	37	5	140250447	140250447	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr5:140250447G>T	ENST00000398640.2	+	1	1759	c.1759G>T	c.(1759-1761)Ggc>Tgc	p.G587C	PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	587	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGGTGCGGGCCACGTGGT	0.677																																						uc003lia.2		NaN																	0				breast(1)	1						c.(1759-1761)GGC>TGC		protocadherin alpha 11 isoform 1 precursor							82.0	93.0	90.0					5																	140250447		2203	4299	6502	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140250447G>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1759G>T	5.37:g.140250447G>T	ENSP00000381636:p.Gly587Cys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.G587C	p.G587C	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2617	+			587			Extracellular (Potential).|Cadherin 6.		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1759G>T	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502318	0.44455	.	.	ENSG00000249158	ENST00000398640	T	0.56275	0.47	4.78	4.78	0.61160	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.85039	0.5606	H	0.99415	4.555	0.52501	D	0.999951	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92273	0.5827	9	0.87932	D	0	.	17.5095	0.87756	0.0:0.0:1.0:0.0	.	587;587	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	C	587	ENSP00000381636:G587C	ENSP00000381636:G587C	G	+	1	0	PCDHA11	140230631	1.000000	0.71417	0.946000	0.38457	0.078000	0.17371	7.314000	0.78988	2.213000	0.71641	0.556000	0.70494	GGC		0.677	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2		NM_018902		22	95	1	0	1.13719e-10	0.008361	1.30361e-10	22	95		
PCDH1	5097	broad.mit.edu	37	5	141233975	141233975	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr5:141233975T>C	ENST00000287008.3	-	5	3493	c.3346A>G	c.(3346-3348)Atg>Gtg	p.M1116V	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTGCCTGTCATGGCGACATCA	0.592																																					Ovarian(132;1609 1739 4190 14731 45037)	uc003llp.2		NaN																	0				ovary(5)	5						c.(3346-3348)ATG>GTG		protocadherin 1 isoform 2 precursor																																				SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141233975T>C	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3346A>G	5.37:g.141233975T>C	ENSP00000287008:p.Met1116Val						p.M1116V	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	5	3463	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	Error:Variant_position_missing_in_Q08174_after_alignment					Q8IUP2	Missense_Mutation	SNP	ENST00000287008.3	37	c.3346A>G	CCDS4267.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.289747	0.23478	.	.	ENSG00000156453	ENST00000287008	T	0.50548	0.74	4.62	3.4	0.38934	.	0.000000	0.49305	U	0.000151	T	0.36166	0.0957	L	0.33485	1.01	0.80722	D	1	P	0.44006	0.824	B	0.41988	0.372	T	0.06338	-1.0832	10	0.37606	T	0.19	.	9.5921	0.39552	0.0:0.0:0.1769:0.8231	.	1116	Q08174-2	.	V	1116	ENSP00000287008:M1116V	ENSP00000287008:M1116V	M	-	1	0	PCDH1	141214159	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.583000	0.53928	0.681000	0.31386	0.379000	0.24179	ATG		0.592	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320587.2		NM_032420		10	39	0	0	0	0.00245	0	10	39		
GABRG2	2566	broad.mit.edu	37	5	161569191	161569191	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr5:161569191T>C	ENST00000361925.4	+	7	1011	c.791T>C	c.(790-792)gTc>gCc	p.V264A	GABRG2_ENST00000356592.3_Missense_Mutation_p.V264A|GABRG2_ENST00000393933.4_Missense_Mutation_p.V169A|GABRG2_ENST00000414552.2_Missense_Mutation_p.V304A			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	264					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTCATGTCTGTCTACTTTGAT	0.403																																						uc003lyz.3		NaN																	0				ovary(4)|skin(1)	5						c.(790-792)GTC>GCC		gamma-aminobutyric acid A receptor, gamma 2							307.0	274.0	286.0					5																	161569191		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161569191T>C		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.791T>C	5.37:g.161569191T>C	ENSP00000354651:p.Val264Ala					GABRG2_uc010jjc.2_Missense_Mutation_p.V304A|GABRG2_uc003lyy.3_Missense_Mutation_p.V264A|GABRG2_uc011dej.1_Missense_Mutation_p.V169A	p.V264A	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	7	1149	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	264			Extracellular (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.791T>C	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.679777	0.47886	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.79352	-1.26;-1.21;-1.26;-1.26;-1.26	5.87	5.87	0.94306	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.70202	0.3197	N	0.21240	0.645	0.80722	D	1	B;B;B	0.32893	0.389;0.051;0.041	B;B;B	0.39465	0.3;0.14;0.086	T	0.67110	-0.5753	10	0.22706	T	0.39	.	16.2674	0.82597	0.0:0.0:0.0:1.0	.	304;264;264	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	A	264;304;264;169;169	ENSP00000349000:V264A;ENSP00000410732:V304A;ENSP00000354651:V264A;ENSP00000377510:V169A;ENSP00000430182:V169A	ENSP00000349000:V264A	V	+	2	0	GABRG2	161501769	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.946000	0.87746	2.242000	0.73789	0.533000	0.62120	GTC		0.403	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1				24	144	0	0	0	0.009535	0	24	144		
GABBR1	2550	broad.mit.edu	37	6	29598366	29598366	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr6:29598366G>A	ENST00000377034.4	-	4	679	c.344C>T	c.(343-345)aCg>aTg	p.T115M	GABBR1_ENST00000355973.3_5'Flank|GABBR1_ENST00000376977.3_Missense_Mutation_p.T115M|GABBR1_ENST00000377016.4_Intron|GABBR1_ENST00000377012.4_5'Flank	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	115	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.T115M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GTCCCCACCCGTCAGGAAAAC	0.562																																						uc003nmt.3		NaN																	1	Substitution - Missense(1)	p.T115M(1)	liver(1)	ovary(5)|liver(1)|skin(1)	7						c.(343-345)ACG>ATG		gamma-aminobutyric acid (GABA) B receptor 1	Baclofen(DB00181)|Progabide(DB00837)						57.0	62.0	60.0					6																	29598366		1510	2709	4219	SO:0001583	missense	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29598366G>A	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.344C>T	6.37:g.29598366G>A	ENSP00000366233:p.Thr115Met					GABBR1_uc003nmp.3_5'Flank|GABBR1_uc003nms.3_5'Flank|GABBR1_uc003nmu.3_Intron|GABBR1_uc011dlr.1_Translation_Start_Site|GABBR1_uc011dls.1_Missense_Mutation_p.T115M	p.T115M	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN			4	680	-			115			Extracellular (Potential).|Sushi 2.		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.344C>T	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238844	0.39598	.	.	ENSG00000204681	ENST00000376977;ENST00000377034;ENST00000462632;ENST00000476670	T;T;T;T	0.74315	-0.83;-0.83;-0.83;0.77	4.73	2.84	0.33178	Complement control module (2);Sushi/SCR/CCP (2);	0.289778	0.31450	N	0.007630	T	0.43100	0.1232	L	0.39898	1.24	0.24941	N	0.991856	P;P	0.52577	0.954;0.855	B;B	0.38954	0.272;0.286	T	0.37103	-0.9720	10	0.59425	D	0.04	-26.3379	6.302	0.21117	0.0:0.2753:0.5452:0.1795	.	115;115	Q9UBS5-5;Q9UBS5	.;GABR1_HUMAN	M	115;115;115;120	ENSP00000366176:T115M;ENSP00000366233:T115M;ENSP00000419755:T115M;ENSP00000417332:T120M	ENSP00000366176:T115M	T	-	2	0	GABBR1	29706345	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.365000	0.20348	0.959000	0.37980	0.561000	0.74099	ACG		0.562	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3				14	33	0	0	0	0.00499	0	14	33		
SLC29A1	2030	broad.mit.edu	37	6	44197137	44197137	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr6:44197137G>C	ENST00000393841.1	+	4	531	c.40G>C	c.(40-42)Gtc>Ctc	p.V14L	SLC29A1_ENST00000427851.2_Missense_Mutation_p.V14L|SLC29A1_ENST00000393844.1_Missense_Mutation_p.V14L|SLC29A1_ENST00000371708.1_Missense_Mutation_p.V14L|SLC29A1_ENST00000371713.1_Missense_Mutation_p.V14L|SLC29A1_ENST00000313248.7_Missense_Mutation_p.V93L|SLC29A1_ENST00000371755.3_Missense_Mutation_p.V14L|SLC29A1_ENST00000371731.1_Missense_Mutation_p.V14L|SLC29A1_ENST00000371724.1_Missense_Mutation_p.V14L|SLC29A1_ENST00000371740.5_Missense_Mutation_p.V14L	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	14					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	ATACAAAGCTGTCTGGCTTAT	0.562																																						uc003owu.1		NaN																	0				large_intestine(2)|skin(1)	3						c.(40-42)GTC>CTC		equilibrative nucleoside transporter 1	Troglitazone(DB00197)						235.0	212.0	220.0					6																	44197137		2203	4300	6503	SO:0001583	missense	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44197137G>C	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.40G>C	6.37:g.44197137G>C	ENSP00000377424:p.Val14Leu					SLC29A1_uc011dvp.1_Missense_Mutation_p.V33L|SLC29A1_uc003owv.1_Missense_Mutation_p.V14L|SLC29A1_uc003oww.1_Missense_Mutation_p.V93L|SLC29A1_uc011dvq.1_Missense_Mutation_p.V56L|SLC29A1_uc003owx.1_Missense_Mutation_p.V14L|SLC29A1_uc003owy.1_Missense_Mutation_p.V14L|SLC29A1_uc003owz.1_Missense_Mutation_p.V14L	p.V14L	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	369	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		14			Helical; (Potential).		B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	ENST00000393841.1	37	c.40G>C	CCDS4908.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623103	0.87460	.	.	ENSG00000112759	ENST00000544345;ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.34	4.46	0.54185	.	0.066858	0.64402	N	0.000012	D	0.88001	0.6320	M	0.91459	3.21	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.998;0.987;0.996;0.996	D	0.90788	0.4684	10	0.72032	D	0.01	-8.1299	14.3434	0.66643	0.0:0.1481:0.8519:0.0	.	14;33;93;14	B7Z1J8;B7Z914;B3KQV7;Q99808	.;.;.;S29A1_HUMAN	L	33;14;93;14;14;14;14;14;14;14;14	ENSP00000377427:V14L;ENSP00000319152:V93L;ENSP00000392668:V14L;ENSP00000360820:V14L;ENSP00000360805:V14L;ENSP00000360796:V14L;ENSP00000377424:V14L;ENSP00000360789:V14L;ENSP00000360778:V14L;ENSP00000360773:V14L	ENSP00000319152:V93L	V	+	1	0	SLC29A1	44305115	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.935000	0.70145	1.231000	0.43661	0.462000	0.41574	GTC		0.562	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1				34	17	0	0	0	0.009718	0	34	17		
CDC5L	988	broad.mit.edu	37	6	44361233	44361233	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr6:44361233G>A	ENST00000371477.3	+	4	661	c.362G>A	c.(361-363)cGa>cAa	p.R121Q		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	121					cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GATGATCCACGAAAACTTAAA	0.408																																						uc003oxl.2		NaN																	0				lung(3)|ovary(1)|kidney(1)|skin(1)	6						c.(361-363)CGA>CAA		CDC5-like							92.0	87.0	89.0					6																	44361233		2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44361233G>A	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.362G>A	6.37:g.44361233G>A	ENSP00000360532:p.Arg121Gln						p.R121Q	NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	621	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		121					Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.362G>A	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	G	36	5.961581	0.97151	.	.	ENSG00000096401	ENST00000371477	T	0.41400	1.0	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.73830	0.3637	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.81389	-0.0955	10	0.62326	D	0.03	-9.6699	20.0576	0.97660	0.0:0.0:1.0:0.0	.	121	Q99459	CDC5L_HUMAN	Q	121	ENSP00000360532:R121Q	ENSP00000360532:R121Q	R	+	2	0	CDC5L	44469211	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.694000	0.98686	2.750000	0.94351	0.609000	0.83330	CGA		0.408	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1				7	18	0	0	0	0.00308	0	7	18		
MDN1	23195	broad.mit.edu	37	6	90359913	90359913	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr6:90359913C>G	ENST00000369393.3	-	97	16151	c.16036G>C	c.(16036-16038)Gac>Cac	p.D5346H	MDN1_ENST00000428876.1_Missense_Mutation_p.D5346H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5346					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTTCGATAGTCTCCTCTATTT	0.348																																						uc003pnn.1		NaN																	0				ovary(8)|skin(2)	10						c.(16036-16038)GAC>CAC		MDN1, midasin homolog							72.0	62.0	66.0					6																	90359913		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90359913C>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.16036G>C	6.37:g.90359913C>G	ENSP00000358400:p.Asp5346His						p.D5346H	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	97	16152	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	5346					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.16036G>C	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786582	0.49997	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.46819	0.86;0.86	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.75722	0.3888	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81389	-0.0955	10	0.87932	D	0	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	5346	Q9NU22	MDN1_HUMAN	H	5346	ENSP00000358400:D5346H;ENSP00000413970:D5346H	ENSP00000358400:D5346H	D	-	1	0	MDN1	90416634	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.487000	0.81328	2.771000	0.95319	0.563000	0.77884	GAC		0.348	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2				12	1	0	0	0	0.003163	0	12	1		
WISP3	8838	broad.mit.edu	37	6	112382385	112382385	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr6:112382385G>T	ENST00000368666.2	+	2	526	c.240G>T	c.(238-240)aaG>aaT	p.K80N	WISP3_ENST00000604763.1_Missense_Mutation_p.K80N|WISP3_ENST00000409166.1_5'Flank|WISP3_ENST00000230529.5_Missense_Mutation_p.K80N|WISP3_ENST00000368663.3_Missense_Mutation_p.K58N|WISP3_ENST00000361714.1_Missense_Mutation_p.K98N	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	80	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)		p.K98N(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TCTGTGCCAAGCAACCAGGGG	0.537																																						uc003pvm.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(238-240)AAG>AAT		WNT1 inducible signaling pathway protein 3							159.0	143.0	148.0					6																	112382385		2203	4300	6503	SO:0001583	missense	8838				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding	g.chr6:112382385G>T	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.240G>T	6.37:g.112382385G>T	ENSP00000357655:p.Lys80Asn					WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_Missense_Mutation_p.K98N	p.K80N	NM_003880	NP_003871	O95389	WISP3_HUMAN		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	3	350	+		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	80			IGFBP N-terminal.		Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	37	c.240G>T	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486641	0.63962	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000361714;ENST00000541400;ENST00000368663	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	4.62	3.75	0.43078	Insulin-like growth factor-binding protein, IGFBP (3);Insulin-like growth factor binding protein, N-terminal, Cys-rich conserved site (1);	0.225040	0.44483	D	0.000451	T	0.58438	0.2122	M	0.81497	2.545	0.38980	D	0.958928	D;P	0.54772	0.968;0.942	P;P	0.54759	0.732;0.76	T	0.63883	-0.6536	10	0.52906	T	0.07	-0.063	9.3436	0.38096	0.1653:0.0:0.8347:0.0	.	98;80	O95389-2;O95389	.;WISP3_HUMAN	N	80;80;98;80;58	ENSP00000357655:K80N;ENSP00000230529:K80N;ENSP00000354734:K98N;ENSP00000357652:K58N	ENSP00000230529:K80N	K	+	3	2	WISP3	112489078	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.380000	0.34351	1.055000	0.40461	0.563000	0.77884	AAG		0.537	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2		NM_003880		54	21	1	0	6.4685e-43	0.01441	8.53987e-43	54	21		
GPRC6A	222545	broad.mit.edu	37	6	117128326	117128326	+	Missense_Mutation	SNP	C	C	T	rs200835880		TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr6:117128326C>T	ENST00000310357.3	-	3	563	c.542G>A	c.(541-543)cGc>cAc	p.R181H	GPRC6A_ENST00000368549.3_Missense_Mutation_p.R181H|GPRC6A_ENST00000530250.1_Missense_Mutation_p.R181H	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	181					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGAAGGAAAGCGAATTTTGTC	0.398													c|||	1	0.000199681	0.0	0.0014	5008	,	,		19252	0.0		0.0	False		,,,				2504	0.0					uc003pxj.1		NaN																	0				ovary(4)|skin(2)	6						c.(541-543)CGC>CAC		G protein-coupled receptor, family C, group 6,							109.0	115.0	113.0					6																	117128326		2203	4299	6502	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117128326C>T	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.542G>A	6.37:g.117128326C>T	ENSP00000309493:p.Arg181His					GPRC6A_uc003pxk.1_Missense_Mutation_p.R181H|GPRC6A_uc003pxl.1_Missense_Mutation_p.R181H	p.R181H	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	3	564	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	181			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.542G>A	CCDS5112.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	17.65	3.440986	0.63067	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.84800	-1.9;-1.9;-1.9	5.65	2.98	0.34508	Extracellular ligand-binding receptor (1);	0.109676	0.41194	N	0.000930	T	0.81389	0.4812	M	0.70275	2.135	0.09310	N	1	P;P;D	0.54047	0.945;0.889;0.964	B;B;P	0.51516	0.322;0.154;0.672	T	0.74982	-0.3478	10	0.62326	D	0.03	.	11.001	0.47604	0.0:0.8017:0.0:0.1983	.	181;181;181	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	H	181	ENSP00000309493:R181H;ENSP00000357537:R181H;ENSP00000433465:R181H	ENSP00000309493:R181H	R	-	2	0	GPRC6A	117235019	0.157000	0.22836	0.996000	0.52242	0.964000	0.63967	0.839000	0.27586	0.513000	0.28278	-0.119000	0.15052	CGC		0.398	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2				44	26	0	0	0	0.01441	0	44	26		
CCDC28A	25901	broad.mit.edu	37	6	139097341	139097341	+	Silent	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr6:139097341C>A	ENST00000332797.6	+	2	509	c.354C>A	c.(352-354)gcC>gcA	p.A118A		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	118										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		AAAAAAATGCCATTCCAGTGA	0.388																																						uc003qie.2		NaN																	0					0						c.(352-354)GCC>GCA		coiled-coil domain containing 28A							114.0	110.0	111.0					6																	139097341		2203	4300	6503	SO:0001819	synonymous_variant	25901							g.chr6:139097341C>A	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.354C>A	6.37:g.139097341C>A						uc003qid.1_5'Flank	p.A118A	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	2	509	+			118					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Silent	SNP	ENST00000332797.6	37	c.354C>A	CCDS5192.1																																																																																				0.388	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1		NM_015439		40	10	1	0	2.77807e-22	0.013114	3.58707e-22	40	10		
SYNE1	23345	broad.mit.edu	37	6	152464820	152464820	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr6:152464820C>T	ENST00000367255.5	-	138	25658	c.25057G>A	c.(25057-25059)Gaa>Aaa	p.E8353K	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.E8305K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E8305K|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2877K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E7965K|SYNE1_ENST00000354674.4_Missense_Mutation_p.E531K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E8353K|SYNE1_ENST00000539504.1_Missense_Mutation_p.E508K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8353					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGATATTTTCGGTTTGCTGT	0.532										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(25057-25059)GAA>AAA		spectrin repeat containing, nuclear envelope 1							154.0	145.0	148.0					6																	152464820		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152464820C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25057G>A	6.37:g.152464820C>T	ENSP00000356224:p.Glu8353Lys	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.E2877K|SYNE1_uc003qos.3_Missense_Mutation_p.E2877K|SYNE1_uc003qot.3_Missense_Mutation_p.E8305K|SYNE1_uc003qou.3_Missense_Mutation_p.E8353K|SYNE1_uc003qop.3_Missense_Mutation_p.E538K|SYNE1_uc011eez.1_Missense_Mutation_p.E555K|SYNE1_uc003qoq.3_Missense_Mutation_p.E555K|SYNE1_uc003qor.3_Missense_Mutation_p.E1276K	p.E8353K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	138	25659	-		Ovarian(120;0.0955)	8353			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.25057G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661680	0.88154	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.59906	0.32;4.38;1.16;0.3;0.23;0.3;0.47;2.26;1.34;4.33	6.16	6.16	0.99307	.	0.191157	0.36268	N	0.002683	T	0.56321	0.1977	M	0.83223	2.63	0.80722	D	1	P;P;B;B;P	0.48694	0.914;0.914;0.4;0.279;0.81	B;B;B;B;B	0.39258	0.295;0.295;0.049;0.022;0.251	T	0.66941	-0.5796	10	0.59425	D	0.04	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	8353;8353;8305;8305;555	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	K	8353;508;999;8305;8353;8305;7965;2877;538;533;1298;531	ENSP00000356224:E8353K;ENSP00000441052:E508K;ENSP00000356226:E999K;ENSP00000396024:E8305K;ENSP00000265368:E8353K;ENSP00000390975:E8305K;ENSP00000341887:E7965K;ENSP00000349276:E2877K;ENSP00000356220:E1298K;ENSP00000346701:E531K	ENSP00000265368:E8353K	E	-	1	0	SYNE1	152506513	1.000000	0.71417	0.136000	0.22124	0.977000	0.68977	7.180000	0.77674	2.937000	0.99478	0.650000	0.86243	GAA		0.532	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		19	52	0	0	0	0.012319	0	19	52		
MACC1	346389	broad.mit.edu	37	7	20199459	20199459	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr7:20199459C>T	ENST00000400331.5	-	5	833	c.525G>A	c.(523-525)cgG>cgA	p.R175R	MACC1_ENST00000332878.4_Silent_p.R175R|MACC1_ENST00000589011.1_Silent_p.R175R	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	175					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TATAAGCCTCCCGATCATTTT	0.468																																						uc003sus.3		NaN																	0				ovary(2)|skin(1)	3						c.(523-525)CGG>CGA		putative binding protein 7a5							73.0	71.0	72.0					7																	20199459		2203	4300	6503	SO:0001819	synonymous_variant	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20199459C>T		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.525G>A	7.37:g.20199459C>T						MACC1_uc010kug.2_Silent_p.R175R	p.R175R	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			5	834	-			175					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Silent	SNP	ENST00000400331.5	37	c.525G>A	CCDS5369.1																																																																																				0.468	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5		NM_182762		8	68	0	0	0	0.004482	0	8	68		
DNAH11	8701	broad.mit.edu	37	7	21631013	21631013	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr7:21631013C>T	ENST00000409508.3	+	14	2516	c.2485C>T	c.(2485-2487)Cgc>Tgc	p.R829C	DNAH11_ENST00000328843.6_Missense_Mutation_p.R829C	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	829	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R829C(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGAGTTGAGCGCACACAGAA	0.607									Kartagener syndrome																													uc003svc.2		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(2485-2487)CGC>TGC		dynein, axonemal, heavy chain 11							44.0	48.0	47.0					7																	21631013		2114	4226	6340	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21631013C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2485C>T	7.37:g.21631013C>T	ENSP00000475939:p.Arg829Cys						p.R829C	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			14	2516	+			829			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2485C>T		.	.	.	.	.	.	.	.	.	.	C	10.97	1.502559	0.26949	.	.	ENSG00000105877	ENST00000328843	T	0.24723	1.84	5.63	5.63	0.86233	.	1.546000	0.03417	N	0.205766	T	0.26991	0.0661	.	.	.	0.09310	N	1	D	0.56968	0.978	B	0.40410	0.328	T	0.35798	-0.9774	9	0.66056	D	0.02	.	12.0181	0.53326	0.2766:0.7234:0.0:0.0	.	829	Q96DT5	DYH11_HUMAN	C	829	ENSP00000330671:R829C	ENSP00000330671:R829C	R	+	1	0	DNAH11	21597538	0.000000	0.05858	0.023000	0.16930	0.005000	0.04900	0.594000	0.24014	2.658000	0.90341	0.561000	0.74099	CGC		0.607	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777		14	33	0	0	0	0.00499	0	14	33		
MALSU1	115416	broad.mit.edu	37	7	23347511	23347511	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr7:23347511G>T	ENST00000466681.1	+	3	613	c.460G>T	c.(460-462)Gac>Tac	p.D154Y		NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	154					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)											ATGTAAACGTGACCCTCATGT	0.428																																						uc003swd.1		NaN																	0					0						c.(460-462)GAC>TAC		hypothetical protein LOC115416							255.0	223.0	234.0					7																	23347511		2203	4300	6503	SO:0001583	missense	115416					mitochondrion		g.chr7:23347511G>T	BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"""chromosome 7 open reading frame 30"""	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.460G>T	7.37:g.23347511G>T	ENSP00000419370:p.Asp154Tyr					C7orf30_uc003swe.2_5'Flank	p.D154Y	NM_138446	NP_612455	Q96EH3	CG030_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		3	492	+			154					A4D154	Missense_Mutation	SNP	ENST00000466681.1	37	c.460G>T	CCDS5381.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990376	0.54041	.	.	ENSG00000156928	ENST00000466681	.	.	.	5.04	5.04	0.67666	.	0.496580	0.21001	N	0.081870	T	0.49270	0.1547	N	0.16903	0.455	0.46078	D	0.998855	P	0.50617	0.937	P	0.54629	0.757	T	0.36792	-0.9733	9	0.22109	T	0.4	-13.6445	15.1443	0.72637	0.0:0.0:0.8582:0.1417	.	154	Q96EH3	CG030_HUMAN	Y	154	.	ENSP00000419370:D154Y	D	+	1	0	C7orf30	23314036	0.999000	0.42202	0.850000	0.33497	0.118000	0.20060	3.339000	0.52135	2.497000	0.84241	0.650000	0.86243	GAC		0.428	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250241.2		NM_138446		49	81	1	0	9.68594e-22	0.01441	1.23038e-21	49	81		
MUC17	140453	broad.mit.edu	37	7	100678782	100678782	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr7:100678782T>C	ENST00000306151.4	+	3	4149	c.4085T>C	c.(4084-4086)gTt>gCt	p.V1362A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1362	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAACTCCTGTTGACAACAGC	0.453																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4084-4086)GTT>GCT		mucin 17 precursor							234.0	235.0	235.0					7																	100678782		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678782T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4085T>C	7.37:g.100678782T>C	ENSP00000302716:p.Val1362Ala					MUC17_uc010lho.1_RNA	p.V1362A	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4138	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1362			Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4085T>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	t	0.817	-0.749819	0.03041	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	0.861	-1.72	0.08107	.	.	.	.	.	T	0.01189	0.0039	N	0.08118	0	0.09310	N	1	B	0.21225	0.053	B	0.14578	0.011	T	0.46816	-0.9164	9	0.08179	T	0.78	.	2.3743	0.04338	0.0:0.3111:0.2944:0.3945	.	1362	Q685J3	MUC17_HUMAN	A	1362	ENSP00000302716:V1362A	ENSP00000302716:V1362A	V	+	2	0	MUC17	100465502	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-4.562000	0.00215	-1.086000	0.03084	0.113000	0.15668	GTT		0.453	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		169	238	0	0	0	0.01441	0	169	238		
SYPL1	6856	broad.mit.edu	37	7	105732326	105732326	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr7:105732326C>A	ENST00000011473.2	-	6	751	c.705G>T	c.(703-705)gaG>gaT	p.E235D	SYPL1_ENST00000455385.2_Missense_Mutation_p.E217D|SYPL1_ENST00000470347.1_3'UTR	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	235	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						GTAGGCTGGTCTCCTTGTACA	0.383																																						uc003vdp.2		NaN																	0					0						c.(703-705)GAG>GAT		synaptophysin-like 1 isoform a							116.0	103.0	107.0					7																	105732326		2203	4300	6503	SO:0001583	missense	6856				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity	g.chr7:105732326C>A		CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"""synaptophysin-like protein"""	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.705G>T	7.37:g.105732326C>A	ENSP00000011473:p.Glu235Asp					SYPL1_uc003vdo.2_Missense_Mutation_p.E217D	p.E235D	NM_006754	NP_006745	Q16563	SYPL1_HUMAN			6	787	-			235			Cytoplasmic (Potential).|MARVEL.		A4D0R2|Q96AR8	Missense_Mutation	SNP	ENST00000011473.2	37	c.705G>T	CCDS5736.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410798	0.62399	.	.	ENSG00000008282	ENST00000455385;ENST00000011473	T;T	0.52526	0.72;0.66	5.77	5.77	0.91146	Marvel (1);	0.150471	0.64402	D	0.000014	T	0.55657	0.1934	M	0.76433	2.335	0.80722	D	1	B	0.34372	0.451	B	0.37422	0.249	T	0.59263	-0.7487	10	0.66056	D	0.02	-28.3828	18.75	0.91810	0.0:1.0:0.0:0.0	.	235	Q16563	SYPL1_HUMAN	D	217;235	ENSP00000388336:E217D;ENSP00000011473:E235D	ENSP00000011473:E235D	E	-	3	2	SYPL1	105519562	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.883000	0.48554	2.724000	0.93272	0.650000	0.86243	GAG		0.383	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349221.1				35	39	1	0	2.38262e-10	0.010771	2.69191e-10	35	39		
FLNC	2318	broad.mit.edu	37	7	128471003	128471003	+	Silent	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr7:128471003C>G	ENST00000325888.8	+	1	573	c.312C>G	c.(310-312)ctC>ctG	p.L104L	FLNC_ENST00000346177.6_Silent_p.L104L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	104	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCGTGGCCCTCGAGTTCCTCG	0.657																																						uc003vnz.3		NaN																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(310-312)CTC>CTG		gamma filamin isoform a							52.0	54.0	53.0					7																	128471003		2203	4300	6503	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128471003C>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.312C>G	7.37:g.128471003C>G						FLNC_uc003voa.3_Silent_p.L104L	p.L104L	NM_001458	NP_001449	Q14315	FLNC_HUMAN			1	521	+			104			CH 1.|Actin-binding.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.312C>G	CCDS43644.1																																																																																				0.657	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3				32	37	0	0	0	0.007835	0	32	37		
DGKI	9162	broad.mit.edu	37	7	137271869	137271869	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr7:137271869G>T	ENST00000288490.5	-	13	1399	c.1399C>A	c.(1399-1401)Ctg>Atg	p.L467M	DGKI_ENST00000453654.2_Missense_Mutation_p.L167M|DGKI_ENST00000424189.2_Missense_Mutation_p.L467M|DGKI_ENST00000446122.1_Missense_Mutation_p.L467M	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	467	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GTTCGAGCCAGGTCATTCCCA	0.552																																						uc003vtt.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(1399-1401)CTG>ATG		diacylglycerol kinase, iota							82.0	75.0	78.0					7																	137271869		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137271869G>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1399C>A	7.37:g.137271869G>T	ENSP00000288490:p.Leu467Met					DGKI_uc003vtu.2_Missense_Mutation_p.L167M	p.L467M	NM_004717	NP_004708	O75912	DGKI_HUMAN			13	1400	-			467			DAGKc.		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.1399C>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342614	0.82022	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.27402	1.67;1.67;1.67	5.87	4.08	0.47627	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66960	-0.5791	10	0.72032	D	0.01	.	11.7226	0.51691	0.1334:0.0:0.8666:0.0	.	167;467	E9PFX6;O75912	.;DGKI_HUMAN	M	167;415;467;467;467	ENSP00000392161:L167M;ENSP00000288490:L467M;ENSP00000399131:L467M	ENSP00000288490:L467M	L	-	1	2	DGKI	136922409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.568000	0.73987	0.833000	0.34828	0.650000	0.86243	CTG		0.552	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3		NM_004717		46	81	1	0	7.7325e-45	0.01441	1.03246e-44	46	81		
RP1L1	94137	broad.mit.edu	37	8	10469938	10469938	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr8:10469938C>T	ENST00000382483.3	-	4	1893	c.1670G>A	c.(1669-1671)gGc>gAc	p.G557D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	557					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTTGCCTTGCCTGGACAGCC	0.657																																						uc003wtc.2		NaN																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(1669-1671)GGC>GAC		retinitis pigmentosa 1-like 1							48.0	58.0	54.0					8																	10469938		2100	4222	6322	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10469938C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1670G>A	8.37:g.10469938C>T	ENSP00000371923:p.Gly557Asp						p.G557D	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1899	-			557					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.1670G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	7.230	0.599065	0.13939	.	.	ENSG00000183638	ENST00000382483	T	0.05513	3.43	4.36	1.44	0.22558	.	0.837651	0.09994	N	0.729288	T	0.04543	0.0124	N	0.14661	0.345	0.09310	N	1	P	0.43477	0.808	B	0.41299	0.353	T	0.41875	-0.9484	10	0.59425	D	0.04	-1.85	6.9968	0.24786	0.0:0.6693:0.0:0.3307	.	557	A6NKC6	.	D	557	ENSP00000371923:G557D	ENSP00000371923:G557D	G	-	2	0	RP1L1	10507348	0.001000	0.12720	0.002000	0.10522	0.048000	0.14542	0.581000	0.23819	0.405000	0.25532	0.305000	0.20034	GGC		0.657	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1				24	39	0	0	0	0.004656	0	24	39		
GATA4	2626	broad.mit.edu	37	8	11615912	11615912	+	Silent	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr8:11615912G>A	ENST00000335135.4	+	7	1815	c.1257G>A	c.(1255-1257)caG>caA	p.Q419Q	GATA4_ENST00000528712.1_Silent_p.Q213Q|C8orf49_ENST00000525043.2_5'Flank|GATA4_ENST00000532059.1_Silent_p.Q420Q	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	419					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		AGTCTCCACAGACCAGCTCCA	0.587																																						uc003wuc.2		NaN																	0				central_nervous_system(1)	1						c.(1255-1257)CAG>CAA		GATA binding protein 4							126.0	105.0	112.0					8																	11615912		2203	4300	6503	SO:0001819	synonymous_variant	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11615912G>A	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.1257G>A	8.37:g.11615912G>A						GATA4_uc003wub.1_Silent_p.Q213Q|GATA4_uc011kxc.1_Silent_p.Q420Q|uc003wud.1_5'Flank	p.Q419Q	NM_002052	NP_002043	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	7	1811	+	all_epithelial(15;0.0839)		419					B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Silent	SNP	ENST00000335135.4	37	c.1257G>A	CCDS5983.1																																																																																				0.587	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2		NM_002052		27	47	0	0	0	0.013726	0	27	47		
TNFRSF10D	8793	broad.mit.edu	37	8	23004489	23004489	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr8:23004489C>T	ENST00000312584.3	-	4	561	c.467G>A	c.(466-468)cGg>cAg	p.R156Q		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	156					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TCTACACGTCCGGCACATCTC	0.502																																						uc003xcz.1		NaN																	0					0						c.(466-468)CGG>CAG		tumor necrosis factor receptor superfamily,							129.0	128.0	129.0					8																	23004489		2203	4300	6503	SO:0001583	missense	8793				anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity	g.chr8:23004489C>T	AF029761	CCDS6038.1	8p21	2006-02-22			ENSG00000173530	ENSG00000173530		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11907	protein-coding gene	gene with protein product		603614				9382840, 9537512	Standard	NM_003840		Approved	DcR2, TRUNDD, TRAILR4, CD264	uc003xcz.2	Q9UBN6	OTTHUMG00000097845	ENST00000312584.3:c.467G>A	8.37:g.23004489C>T	ENSP00000310263:p.Arg156Gln						p.R156Q	NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)	4	559	-		Prostate(55;0.0421)|Breast(100;0.067)	156			Extracellular (Potential).|TNFR-Cys 3.		B2R8W0|Q9Y6Q4	Missense_Mutation	SNP	ENST00000312584.3	37	c.467G>A	CCDS6038.1	.	.	.	.	.	.	.	.	.	.	c	0.931	-0.712706	0.03206	.	.	ENSG00000173530	ENST00000312584	D	0.91180	-2.8	1.93	-2.2	0.06994	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.396705	0.23125	N	0.051654	T	0.72137	0.3423	N	0.16368	0.405	0.09310	N	1	P	0.34800	0.469	B	0.19946	0.027	T	0.67745	-0.5591	10	0.10902	T	0.67	.	5.7736	0.18267	0.0:0.349:0.0:0.651	.	156	Q9UBN6	TR10D_HUMAN	Q	156	ENSP00000310263:R156Q	ENSP00000310263:R156Q	R	-	2	0	TNFRSF10D	23060434	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.770000	0.01791	-0.559000	0.06110	-1.244000	0.01528	CGG		0.502	TNFRSF10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215135.1				7	44	0	0	0	0.006214	0	7	44		
ADAM32	203102	broad.mit.edu	37	8	39111966	39111966	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr8:39111966C>A	ENST00000379907.4	+	18	2063	c.1936C>A	c.(1936-1938)Cca>Aca	p.P646T	ADAM32_ENST00000519315.1_Missense_Mutation_p.P540T|ADAM32_ENST00000437682.2_Missense_Mutation_p.P547T	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	646	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CCATTGTTCGCCAGGCTATAA	0.363																																						uc003xmt.3		NaN																	0				ovary(1)|lung(1)|kidney(1)	3						c.(1936-1938)CCA>ACA		a disintegrin and metalloprotease domain 32							49.0	47.0	48.0					8																	39111966		1833	4078	5911	SO:0001583	missense	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39111966C>A	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1936C>A	8.37:g.39111966C>A	ENSP00000369238:p.Pro646Thr					ADAM32_uc011lch.1_Missense_Mutation_p.P547T|ADAM32_uc003xmu.3_Missense_Mutation_p.P540T|ADAM32_uc003xmv.2_Missense_Mutation_p.P70T	p.P646T	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		18	2181	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	646			EGF-like.|Extracellular (Potential).		Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	c.1936C>A	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	C	5.611	0.297501	0.10622	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	D;D;D	0.89270	-2.49;-2.49;-2.49	4.06	-8.12	0.01078	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	13.037900	0.00531	N	0.000219	T	0.82135	0.4971	M	0.63169	1.94	0.09310	N	1	P;P;B;B	0.46220	0.495;0.874;0.111;0.273	B;B;B;B	0.37989	0.065;0.262;0.026;0.15	T	0.76149	-0.3065	10	0.17369	T	0.5	.	5.1732	0.15122	0.2918:0.4888:0.1255:0.0938	.	547;70;540;646	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	T	547;540;646	ENSP00000405978:P547T;ENSP00000429422:P540T;ENSP00000369238:P646T	ENSP00000369238:P646T	P	+	1	0	ADAM32	39231123	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.226000	0.02953	-2.489000	0.00518	-1.083000	0.02208	CCA		0.363	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1		NM_145004		6	3	1	0	0.00621372	0.006214	0.00637652	6	3		
PLAT	5327	broad.mit.edu	37	8	42050684	42050684	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr8:42050684C>G	ENST00000220809.4	-	2	276	c.20G>C	c.(19-21)gGg>gCg	p.G7A	PLAT_ENST00000524009.1_Missense_Mutation_p.G7A|PLAT_ENST00000270189.6_Missense_Mutation_p.G7A|PLAT_ENST00000429089.2_Missense_Mutation_p.G7A|PLAT_ENST00000429710.2_Missense_Mutation_p.G7A|PLAT_ENST00000519510.1_Missense_Mutation_p.G7A|PLAT_ENST00000352041.3_Missense_Mutation_p.G7A	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	7					blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	ACAGCAGAGCCCTCTCTTCAT	0.547																																						uc003xos.2		NaN																	0				breast(1)|skin(1)	2						c.(19-21)GGG>GCG		plasminogen activator, tissue isoform 1	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						162.0	134.0	143.0					8																	42050684		2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42050684C>G		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.20G>C	8.37:g.42050684C>G	ENSP00000220809:p.Gly7Ala					PLAT_uc010lxf.1_Missense_Mutation_p.G7A|PLAT_uc010lxg.1_Missense_Mutation_p.G7A|PLAT_uc003xot.2_Missense_Mutation_p.G7A|PLAT_uc011lcm.1_Missense_Mutation_p.G7A|PLAT_uc011lcn.1_Missense_Mutation_p.G7A	p.G7A	NM_000930	NP_000921	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		2	229	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	7					A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.20G>C	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	C	7.812	0.715929	0.15306	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009;ENST00000520523;ENST00000521694	T;D;D;D;D;D;D;T;T	0.88277	-0.58;-2.11;-2.11;-2.36;-2.12;-2.13;-2.13;-0.94;-0.99	4.04	-5.44	0.02624	.	1.672620	0.02753	N	0.117679	T	0.77678	0.4166	N	0.22421	0.69	0.09310	N	1	B;P;P;B;B	0.35328	0.435;0.495;0.495;0.035;0.104	B;B;B;B;B	0.32677	0.057;0.15;0.106;0.043;0.079	T	0.68519	-0.5387	10	0.23302	T	0.38	.	5.9192	0.19072	0.0:0.3844:0.2703:0.3453	.	7;7;7;7;7	B4DNJ1;B4DN26;B4DV92;P00750-3;P00750	.;.;.;.;TPA_HUMAN	A	7	ENSP00000270189:G7A;ENSP00000392045:G7A;ENSP00000220809:G7A;ENSP00000270188:G7A;ENSP00000428886:G7A;ENSP00000407861:G7A;ENSP00000429401:G7A;ENSP00000428797:G7A;ENSP00000429801:G7A	ENSP00000220809:G7A	G	-	2	0	PLAT	42169841	0.008000	0.16893	0.000000	0.03702	0.002000	0.02628	0.017000	0.13399	-1.064000	0.03172	-0.878000	0.02970	GGG		0.547	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1		NM_000930		12	28	0	0	0	0.003163	0	12	28		
ZFHX4	79776	broad.mit.edu	37	8	77764038	77764038	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr8:77764038G>T	ENST00000521891.2	+	10	5329	c.4881G>T	c.(4879-4881)gaG>gaT	p.E1627D	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1601D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E1582D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E1582D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1582					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAAAGCTGGAGCCCAGTGGTC	0.517										HNSCC(33;0.089)																												uc003yav.2		NaN																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4744-4746)GAG>GAT		zinc finger homeodomain 4							54.0	52.0	53.0					8																	77764038		1930	4133	6063	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764038G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4881G>T	8.37:g.77764038G>T	ENSP00000430497:p.Glu1627Asp	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.E1627D|ZFHX4_uc003yaw.1_Missense_Mutation_p.E1582D	p.E1582D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5133	+			1582					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4746G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	8.288	0.816975	0.16607	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52983	0.64;0.69;0.66;0.66	4.4	1.57	0.23409	.	0.000000	0.44902	U	0.000418	T	0.55401	0.1918	L	0.54323	1.7	0.51482	D	0.999921	D;D;D	0.67145	0.993;0.996;0.996	D;D;D	0.75484	0.967;0.986;0.986	T	0.51466	-0.8702	10	0.44086	T	0.13	.	5.4741	0.16686	0.5916:0.0:0.4084:0.0	.	1582;1582;1627	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	D	1627;1627;1582;1582;1601	ENSP00000430497:E1627D;ENSP00000399605:E1582D;ENSP00000050961:E1582D;ENSP00000430848:E1601D	ENSP00000050961:E1582D	E	+	3	2	ZFHX4	77926593	1.000000	0.71417	0.997000	0.53966	0.838000	0.47535	1.878000	0.39608	0.586000	0.29626	0.542000	0.68232	GAG		0.517	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		15	20	1	0	1.67942e-08	0.006122	1.87935e-08	15	20		
FAM83H	286077	broad.mit.edu	37	8	144810312	144810312	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr8:144810312T>G	ENST00000388913.3	-	5	1444	c.1319A>C	c.(1318-1320)gAc>gCc	p.D440A		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	440					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAAGCGGAAGTCGTCGCCGTG	0.697																																						uc003yzk.2		NaN																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(1318-1320)GAC>GCC		FAM83H							25.0	37.0	33.0					8																	144810312		2132	4223	6355	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144810312T>G	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.1319A>C	8.37:g.144810312T>G	ENSP00000373565:p.Asp440Ala					FAM83H_uc010mfk.1_RNA	p.D440A	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	1388	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		440					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.1319A>C	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	t	19.93	3.917338	0.73098	.	.	ENSG00000180921	ENST00000388913	T	0.18960	2.18	4.87	4.87	0.63330	.	0.604741	0.14464	U	0.318006	T	0.25865	0.0630	L	0.27053	0.805	0.44373	D	0.997274	D	0.60575	0.988	P	0.52343	0.696	T	0.02705	-1.1121	10	0.66056	D	0.02	.	13.6477	0.62292	0.0:0.0:0.0:1.0	.	440	Q6ZRV2	FA83H_HUMAN	A	440	ENSP00000373565:D440A	ENSP00000373565:D440A	D	-	2	0	FAM83H	144882300	1.000000	0.71417	0.989000	0.46669	0.687000	0.40016	4.065000	0.57513	1.811000	0.52892	0.454000	0.30748	GAC		0.697	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2		NM_198488		5	15	0	0	0	0.000602	0	5	15		
CNTLN	54875	broad.mit.edu	37	9	17466040	17466040	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr9:17466040G>T	ENST00000380647.3	+	22	3677	c.3593G>T	c.(3592-3594)aGa>aTa	p.R1198I	CNTLN_ENST00000262360.5_Missense_Mutation_p.R1198I|CNTLN_ENST00000425824.1_Missense_Mutation_p.R1198I			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1198					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CTAAAGCAAAGACTTAACGTT	0.303																																						uc003zmz.2		NaN																	0				pancreas(1)	1						c.(3589-3591)AGA>ATA		centlein isoform 1							91.0	85.0	87.0					9																	17466040		1831	4075	5906	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17466040G>T	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3593G>T	9.37:g.17466040G>T	ENSP00000370021:p.Arg1198Ile					CNTLN_uc003zmy.2_Missense_Mutation_p.R1198I|CNTLN_uc010mio.2_Missense_Mutation_p.R877I	p.R1197I	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	22	3616	+			1198			Potential.		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.3590G>T	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941316	0.73557	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.27402	1.67;1.67;1.92	5.65	4.67	0.58626	.	.	.	.	.	T	0.51907	0.1702	M	0.66939	2.045	0.58432	D	0.999994	D;D;D	0.69078	0.986;0.997;0.997	P;P;P	0.62560	0.769;0.904;0.904	T	0.55321	-0.8159	9	0.72032	D	0.01	.	17.2928	0.87162	0.0:0.0:0.8661:0.1339	.	1198;1198;1198	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	I	1198	ENSP00000370021:R1198I;ENSP00000392798:R1198I;ENSP00000262360:R1198I	ENSP00000262360:R1198I	R	+	2	0	CNTLN	17456040	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.692000	0.54727	2.667000	0.90743	0.650000	0.86243	AGA		0.303	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3		NM_017738		27	27	1	0	4.74835e-14	0.010818	5.63567e-14	27	27		
AUH	549	broad.mit.edu	37	9	94118381	94118381	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr9:94118381G>C	ENST00000375731.4	-	2	342	c.319C>G	c.(319-321)Ctt>Gtt	p.L107V	AUH_ENST00000422391.2_Missense_Mutation_p.L107V|AUH_ENST00000478465.1_5'UTR|AUH_ENST00000303617.5_Missense_Mutation_p.L107V	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	107	RNA-binding.				branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)|methylglutaconyl-CoA hydratase activity (GO:0004490)|mRNA 3'-UTR binding (GO:0003730)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						ATTTTTATAAGATTTTTACTG	0.289																																						uc004arf.3		NaN																	0					0						c.(319-321)CTT>GTT		AU RNA binding protein/enoyl-Coenzyme A							57.0	56.0	56.0					9																	94118381		2201	4299	6500	SO:0001583	missense	549				branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding	g.chr9:94118381G>C	X79888	CCDS6689.1	9q22	2014-09-17	2010-04-30		ENSG00000148090	ENSG00000148090			890	protein-coding gene	gene with protein product		600529	"""AU RNA-binding protein/enoyl-Coenzyme A hydratase"", ""AU RNA binding protein/enoyl-Coenzyme A hydratase"""			7892223	Standard	NM_001698		Approved		uc004arf.4	Q13825	OTTHUMG00000020207	ENST00000375731.4:c.319C>G	9.37:g.94118381G>C	ENSP00000364883:p.Leu107Val					AUH_uc004arg.3_Missense_Mutation_p.L107V|AUH_uc011ltu.1_Missense_Mutation_p.L107V	p.L107V	NM_001698	NP_001689	Q13825	AUHM_HUMAN			2	354	-			107			RNA-binding.		B1ALV7|B1ALV8|Q8WUE4	Missense_Mutation	SNP	ENST00000375731.4	37	c.319C>G	CCDS6689.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.158904	0.57368	.	.	ENSG00000148090	ENST00000375731;ENST00000303617;ENST00000422391	T;T;T	0.72282	-0.64;-0.64;-0.64	5.04	5.04	0.67666	Crotonase, core (1);	0.000000	0.85682	D	0.000000	T	0.66509	0.2796	L	0.41710	1.295	0.58432	D	0.999998	B;B;B	0.33549	0.417;0.063;0.185	B;B;B	0.38880	0.284;0.036;0.147	T	0.66532	-0.5900	10	0.42905	T	0.14	.	15.6883	0.77430	0.0:0.0:1.0:0.0	.	107;107;107	B4DYI6;Q13825-2;Q13825	.;.;AUHM_HUMAN	V	107	ENSP00000364883:L107V;ENSP00000307334:L107V;ENSP00000402026:L107V	ENSP00000307334:L107V	L	-	1	0	AUH	93158202	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	4.646000	0.61411	2.641000	0.89580	0.591000	0.81541	CTT		0.289	AUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053032.1				4	17	0	0	0	0.009096	0	4	17		
TMEM245	23731	broad.mit.edu	37	9	111849557	111849557	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr9:111849557C>T	ENST00000374586.3	-	6	1247	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	406						integral component of membrane (GO:0016021)											CCCCACCACACATGGTAGCGT	0.413																																						uc004bdt.3		NaN																	0				central_nervous_system(1)	1						c.(1216-1218)GTG>ATG		hypothetical protein LOC23731							93.0	88.0	90.0					9																	111849557		1829	4093	5922	SO:0001583	missense	23731					integral to membrane		g.chr9:111849557C>T	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 5"""	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1216G>A	9.37:g.111849557C>T	ENSP00000363714:p.Val406Met					C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.V406M	p.V406M	NM_032012	NP_114401	Q9H330	CI005_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)	6	1248	-		Myeloproliferative disorder(63;0.204)	406					B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Missense_Mutation	SNP	ENST00000374586.3	37	c.1216G>A	CCDS43858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.312|5.312	0.242946|0.242946	0.10077|0.10077	.|.	.|.	ENSG00000106771|ENSG00000106771	ENST00000413712|ENST00000374587;ENST00000374586;ENST00000223608	.|T	.|0.22134	.|1.97	5.83|5.83	1.84|1.84	0.25277|0.25277	.|.	.|1.378440	.|0.04063	.|N	.|0.306731	T|T	0.10723|0.10723	0.0262|0.0262	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.27117	.|0.001;0.168	.|B;B	.|0.26517	.|0.003;0.07	T|T	0.24977|0.24977	-1.0145|-1.0145	5|10	.|0.37606	.|T	.|0.19	2.1597|2.1597	1.4223|1.4223	0.02314|0.02314	0.1321:0.3617:0.2578:0.2484|0.1321:0.3617:0.2578:0.2484	.|.	.|406;406	.|Q9H330-2;Q9H330	.|.;CI005_HUMAN	Y|M	6|406	.|ENSP00000363714:V406M	.|ENSP00000223608:V406M	C|V	-|-	2|1	0|0	C9orf5|C9orf5	110889378|110889378	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.153000|0.153000	0.21895|0.21895	-0.038000|-0.038000	0.12144|0.12144	0.075000|0.075000	0.16796|0.16796	-0.302000|-0.302000	0.09304|0.09304	TGT|GTG		0.413	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2		NM_032012		21	30	0	0	0	0.004656	0	21	30		
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr9:137328351C>T	ENST00000481739.1	+	10	1332	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	RXRA_ENST00000540193.1_Missense_Mutation_p.S330F|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GCTCTGCGCTCCATCGGGCTC	0.607																																						uc004cfb.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1279-1281)TCC>TTC		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						132.0	117.0	122.0					9																	137328351		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137328351C>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1280C>T	9.37:g.137328351C>T	ENSP00000419692:p.Ser427Phe					RXRA_uc004cfc.1_Missense_Mutation_p.S330F	p.S427F	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	10	1442	+			427			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.1280C>T	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825420	0.90955	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.96940	-4.18;-4.18	4.76	4.76	0.60689	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99744	1.1016	10	0.87932	D	0	.	17.7817	0.88526	0.0:1.0:0.0:0.0	.	427	P19793	RXRA_HUMAN	F	427;330	ENSP00000419692:S427F;ENSP00000442123:S330F	ENSP00000419692:S427F	S	+	2	0	RXRA	136468172	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.532000	0.81985	2.193000	0.70182	0.591000	0.81541	TCC		0.607	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1		NM_002957		17	55	0	0	0	0.006122	0	17	55		
SHROOM2	357	broad.mit.edu	37	X	9900619	9900619	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:9900619C>T	ENST00000380913.3	+	6	3386	c.3296C>T	c.(3295-3297)cCt>cTt	p.P1099L	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1099					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				ACGCCATCCCCTGCGTCCCTG	0.692																																						uc004csu.1		NaN																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3295-3297)CCT>CTT		apical protein of Xenopus-like							45.0	40.0	42.0					X																	9900619		2203	4300	6503	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9900619C>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3296C>T	X.37:g.9900619C>T	ENSP00000370299:p.Pro1099Leu					SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR	p.P1099L	NM_001649	NP_001640	Q13796	SHRM2_HUMAN			6	3386	+		Hepatocellular(5;0.000888)	1099					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.3296C>T	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997949	0.74818	.	.	ENSG00000146950	ENST00000380913	T	0.16897	2.31	4.22	4.22	0.49857	.	1.991930	0.02010	N	0.046912	T	0.26593	0.0650	L	0.43152	1.355	0.80722	D	1	D	0.53619	0.961	P	0.44597	0.454	T	0.20042	-1.0287	10	0.72032	D	0.01	.	16.1627	0.81731	0.0:1.0:0.0:0.0	.	1099	Q13796	SHRM2_HUMAN	L	1099	ENSP00000370299:P1099L	ENSP00000370299:P1099L	P	+	2	0	SHROOM2	9860619	0.331000	0.24713	0.002000	0.10522	0.006000	0.05464	5.705000	0.68355	1.717000	0.51406	0.594000	0.82650	CCT		0.692	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1		NM_001649		6	52	0	0	0	0.001984	0	6	52		
DMD	1756	broad.mit.edu	37	X	32383166	32383166	+	Silent	SNP	G	G	T	rs398123973|rs398123974		TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:32383166G>T	ENST00000357033.4	-	35	5202	c.4996C>A	c.(4996-4998)Cga>Aga	p.R1666R	DMD_ENST00000378677.2_Silent_p.R1662R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1666	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTCTGCTCGGGAGGTGACA	0.428																																						uc004dda.1		NaN																	0				ovary(3)|pancreas(2)|large_intestine(1)	6	GRCh37	CM013373	DMD	M		c.(4996-4998)CGA>AGA		dystrophin Dp427m isoform							133.0	107.0	116.0					X																	32383166		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32383166G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4996C>A	X.37:g.32383166G>T						DMD_uc004dcw.2_Silent_p.R322R|DMD_uc004dcx.2_Silent_p.R325R|DMD_uc004dcz.2_Silent_p.R1543R|DMD_uc004dcy.1_Silent_p.R1662R|DMD_uc004ddb.1_Silent_p.R1658R|DMD_uc010ngo.1_Intron	p.R1666R	NM_004006	NP_003997	P11532	DMD_HUMAN			35	5240	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1666			Spectrin 11.|Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.4996C>A	CCDS14233.1																																																																																				0.428	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2		NM_004006		49	44	1	0	3.30226e-22	0.01441	4.24061e-22	49	44		
CXorf22	170063	broad.mit.edu	37	X	35993361	35993361	+	Silent	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:35993361G>A	ENST00000297866.5	+	14	2418	c.2352G>A	c.(2350-2352)caG>caA	p.Q784Q		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	784										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTTTGCTCCAGTTAGATACTG	0.358																																						uc004ddj.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(2350-2352)CAG>CAA		hypothetical protein LOC170063							117.0	103.0	108.0					X																	35993361		2202	4296	6498	SO:0001819	synonymous_variant	170063							g.chrX:35993361G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2352G>A	X.37:g.35993361G>A						CXorf22_uc010ngv.2_Splice_Site	p.Q784Q	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			14	2411	+			784					Q5JRM8|Q8N6X8	Silent	SNP	ENST00000297866.5	37	c.2352G>A	CCDS14237.2																																																																																				0.358	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2		NM_152632		90	83	0	0	0	0.01441	0	90	83		
HDAC6	10013	broad.mit.edu	37	X	48682372	48682372	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:48682372A>G	ENST00000334136.5	+	27	3522	c.3344A>G	c.(3343-3345)cAt>cGt	p.H1115R	HDAC6_ENST00000376619.2_Missense_Mutation_p.H1115R|HDAC6_ENST00000444343.2_Missense_Mutation_p.H1129R			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1115					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TGGTGTCCCCATTTGGTGGCA	0.517																																					Pancreas(112;205 1675 2305 8976 15959)	uc011mmi.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(3343-3345)CAT>CGT		histone deacetylase 6	Vorinostat(DB02546)						94.0	84.0	87.0					X																	48682372		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48682372A>G	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.3344A>G	X.37:g.48682372A>G	ENSP00000334061:p.His1115Arg					HDAC6_uc004dks.1_Missense_Mutation_p.H1115R|HDAC6_uc010nig.1_Missense_Mutation_p.H963R|HDAC6_uc004dkt.1_Missense_Mutation_p.H1115R|HDAC6_uc011mmk.1_Missense_Mutation_p.H1096R|HDAC6_uc004dkv.1_Missense_Mutation_p.H763R|HDAC6_uc004dkw.1_Missense_Mutation_p.H763R|HDAC6_uc004dkx.1_Missense_Mutation_p.H478R	p.H1115R	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN			27	3439	+			1115				Zinc 1.	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.3344A>G	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	a	22.0	4.225722	0.79576	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619	T;T;T	0.56611	0.45;0.45;0.45	5.18	5.18	0.71444	Zinc finger, RING/FYVE/PHD-type (1);	0.126644	0.51477	D	0.000099	T	0.70824	0.3268	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.994;0.999	T	0.74714	-0.3572	10	0.87932	D	0	-17.4835	12.0835	0.53684	1.0:0.0:0.0:0.0	.	1105;478;763;1115	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	R	1129;1115;1115	ENSP00000398566:H1129R;ENSP00000334061:H1115R;ENSP00000365804:H1115R	ENSP00000334061:H1115R	H	+	2	0	HDAC6	48567316	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.231000	0.89794	1.827000	0.53221	0.352000	0.21897	CAT		0.517	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2		NM_006044		34	86	0	0	0	0.007835	0	34	86		
PJA1	64219	broad.mit.edu	37	X	68382762	68382762	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:68382762G>A	ENST00000361478.1	-	2	697	c.320C>T	c.(319-321)tCg>tTg	p.S107L	PJA1_ENST00000374583.1_Missense_Mutation_p.S107L|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374571.4_Missense_Mutation_p.S52L	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	107					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S107L(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TCTGCTACCCGAAGCTCTGTA	0.522																																						uc004dxh.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(319-321)TCG>TTG		praja 1 isoform a							85.0	77.0	80.0					X																	68382762		2203	4300	6503	SO:0001583	missense	64219						zinc ion binding	g.chrX:68382762G>A	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.320C>T	X.37:g.68382762G>A	ENSP00000355014:p.Ser107Leu					PJA1_uc011mpi.1_5'UTR|PJA1_uc004dxg.2_Intron|PJA1_uc004dxi.2_Missense_Mutation_p.S52L	p.S107L	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN			2	606	-			107					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.320C>T	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308994	0.23821	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.14766	2.48;2.48;2.48	3.25	2.38	0.29361	.	0.761458	0.10268	N	0.695152	T	0.11153	0.0272	L	0.46157	1.445	0.18873	N	0.999983	B	0.12013	0.005	B	0.04013	0.001	T	0.38779	-0.9645	10	0.17832	T	0.49	-3.6457	5.658	0.17652	0.1538:0.0:0.8462:0.0	.	107	Q8NG27	PJA1_HUMAN	L	52;107;107;52	ENSP00000363711:S107L;ENSP00000355014:S107L;ENSP00000363699:S52L	ENSP00000355014:S107L	S	-	2	0	PJA1	68299487	0.501000	0.26099	0.555000	0.28281	0.928000	0.56348	0.976000	0.29462	0.789000	0.33779	0.534000	0.68092	TCG		0.522	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2		NM_145119		20	99	0	0	0	0.014323	0	20	99		
OGT	8473	broad.mit.edu	37	X	70775117	70775117	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:70775117A>G	ENST00000373719.3	+	7	1023	c.806A>G	c.(805-807)tAc>tGc	p.Y269C	OGT_ENST00000373701.3_Missense_Mutation_p.Y259C	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	269					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GCTTGTGTATACTATGAGCAA	0.483																																						uc004eaa.1		NaN																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(805-807)TAC>TGC		O-linked GlcNAc transferase isoform 1							115.0	87.0	97.0					X																	70775117		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70775117A>G	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.806A>G	X.37:g.70775117A>G	ENSP00000362824:p.Tyr269Cys					BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.Y259C|OGT_uc004eac.2_Missense_Mutation_p.Y130C|OGT_uc004ead.2_Intron	p.Y269C	NM_181672	NP_858058	O15294	OGT1_HUMAN			7	1023	+	Renal(35;0.156)		269			TPR 7.		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.806A>G	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.071534	0.76301	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.62105	0.05;0.05	5.01	5.01	0.66863	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.81351	0.4804	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.83795	0.0233	10	0.46703	T	0.11	-25.9869	13.9545	0.64140	1.0:0.0:0.0:0.0	.	143;259;269	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	C	269;259	ENSP00000362824:Y269C;ENSP00000362805:Y259C	ENSP00000362805:Y259C	Y	+	2	0	OGT	70691842	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.134000	0.94467	1.870000	0.54199	0.483000	0.47432	TAC		0.483	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3		NM_003605, NM_181672		64	72	0	0	0	0.01441	0	64	72		
PSMD10	5716	broad.mit.edu	37	X	107331994	107331994	+	Silent	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:107331994A>G	ENST00000217958.3	-	2	298	c.201T>C	c.(199-201)aaT>aaC	p.N67N	PSMD10_ENST00000340200.5_Intron|ATG4A_ENST00000345734.3_5'Flank|ATG4A_ENST00000372232.3_5'Flank|ATG4A_ENST00000372254.3_5'Flank|PSMD10_ENST00000372295.1_Silent_p.N67N|PSMD10_ENST00000372296.1_Silent_p.N67N|PSMD10_ENST00000361815.5_Silent_p.N67N	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	67	Interaction with RB1.|Interaction with RELA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell growth (GO:0030307)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CGTCTTTATCATTCACTGGCA	0.413																																						uc004enp.1		NaN																	0				ovary(1)	1						c.(199-201)AAT>AAC		proteasome 26S non-ATPase subunit 10 isoform 1							158.0	151.0	154.0					X																	107331994		2203	4300	6503	SO:0001819	synonymous_variant	5716				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding	g.chrX:107331994A>G	AB009619	CCDS14536.1, CCDS14537.1	Xq22.3	2013-01-10			ENSG00000101843	ENSG00000101843		"""Proteasome (prosome, macropain) subunits"", ""Ankyrin repeat domain containing"""	9555	protein-coding gene	gene with protein product	"""gankyrin"""	300880				9714768	Standard	NM_002814		Approved	p28	uc004enp.2	O75832	OTTHUMG00000022177	ENST00000217958.3:c.201T>C	X.37:g.107331994A>G						ATG4A_uc004enr.2_5'Flank|ATG4A_uc004ent.2_5'Flank|ATG4A_uc004ens.2_5'Flank|ATG4A_uc011msl.1_5'Flank|ATG4A_uc010npi.2_5'Flank|PSMD10_uc004enq.1_Silent_p.N67N|PSMD10_uc010nph.1_Silent_p.N67N	p.N67N	NM_002814	NP_002805	O75832	PSD10_HUMAN			2	299	-			67			Interaction with RELA.|ANK 2.|Interaction with RB1.		Q5U0B2|Q8IZK9	Silent	SNP	ENST00000217958.3	37	c.201T>C	CCDS14536.1																																																																																				0.413	PSMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057868.1		NM_170750		212	193	0	0	0	0.01441	0	212	193		
COL4A5	1287	broad.mit.edu	37	X	107938638	107938638	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:107938638C>A	ENST00000361603.2	+	50	5189	c.4945C>A	c.(4945-4947)Ctg>Atg	p.L1649M	COL4A5_ENST00000328300.6_Missense_Mutation_p.L1655M	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1649	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.		L -> R (in APSX; adult type). {ECO:0000269|PubMed:11223851, ECO:0000269|PubMed:8651292, ECO:0000269|PubMed:9848783}.|Missing (in APSX). {ECO:0000269|PubMed:7853788}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CAGCTTTTGGCTGGCAACTGT	0.463									Alport syndrome with Diffuse Leiomyomatosis																													uc004enz.1		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(4963-4965)CTG>ATG		type IV collagen alpha 5 isoform 2 precursor							125.0	109.0	114.0					X																	107938638		2203	4300	6503	SO:0001583	missense	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107938638C>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4945C>A	X.37:g.107938638C>A	ENSP00000354505:p.Leu1649Met					COL4A5_uc011mso.1_Missense_Mutation_p.L1652M|COL4A5_uc011msp.1_Missense_Mutation_p.L331M	p.L1655M	NM_033380	NP_203699	P29400	CO4A5_HUMAN			51	5165	+			1649		L -> R (in APSX; adult type).|Missing (in APSX).	Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.4963C>A	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711067	0.68730	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.98762	-5.12;-5.12	5.44	4.44	0.53790	C-type lectin fold (1);	0.084010	0.49916	D	0.000136	D	0.98994	0.9657	M	0.86573	2.825	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.99297	1.0900	10	0.87932	D	0	.	8.4256	0.32727	0.0:0.79:0.0:0.21	.	1652;1649	E7EVY4;P29400	.;CO4A5_HUMAN	M	1655;1649;1655	ENSP00000331902:L1655M;ENSP00000354505:L1649M	ENSP00000331902:L1655M	L	+	1	2	COL4A5	107825294	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.214000	0.42853	0.828000	0.34709	0.600000	0.82982	CTG		0.463	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2				54	68	1	0	4.02486e-48	0.01441	5.40481e-48	54	68		
KLHL13	90293	broad.mit.edu	37	X	117054334	117054334	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:117054334C>A	ENST00000262820.3	-	3	1150		c.e3-1		KLHL13_ENST00000469946.1_Splice_Site|KLHL13_ENST00000540167.1_Splice_Site|KLHL13_ENST00000371878.1_Splice_Site|KLHL13_ENST00000539496.1_Splice_Site|KLHL13_ENST00000371882.1_Splice_Site|KLHL13_ENST00000371876.1_Splice_Site|KLHL13_ENST00000545703.1_Splice_Site|KLHL13_ENST00000541812.1_Splice_Site	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13						cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTCAAAGCCCTACAACAAGA	0.408																																						uc004eql.2		NaN																	0				kidney(1)|skin(1)	2						c.e3-1		kelch-like 13							151.0	109.0	123.0					X																	117054334		2203	4300	6503	SO:0001630	splice_region_variant	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117054334C>A	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.241-1G>T	X.37:g.117054334C>A						KLHL13_uc004eqk.2_Splice_Site_p.G30_splice|KLHL13_uc011mtn.1_Splice_Site|KLHL13_uc011mto.1_Splice_Site_p.G75_splice|KLHL13_uc011mtp.1_Splice_Site_p.G83_splice|KLHL13_uc004eqm.2_Splice_Site_p.G30_splice|KLHL13_uc011mtq.1_Splice_Site_p.G65_splice	p.G81_splice	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN			3	303	-								B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Splice_Site	SNP	ENST00000262820.3	37	c.241_splice	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.153336	0.78114	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946;ENST00000453826	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1231	0.86706	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KLHL13	116938362	1.000000	0.71417	0.997000	0.53966	0.890000	0.51754	7.648000	0.83479	2.222000	0.72286	0.540000	0.68198	.		0.408	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_033495	Intron	46	49	1	0	3.94638e-17	0.01441	4.7804e-17	46	49		
THOC2	57187	broad.mit.edu	37	X	122754808	122754808	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:122754808G>A	ENST00000245838.8	-	32	4256	c.4225C>T	c.(4225-4227)Cgc>Tgc	p.R1409C	THOC2_ENST00000491737.1_Missense_Mutation_p.R1294C|THOC2_ENST00000355725.4_Missense_Mutation_p.R1409C|THOC2_ENST00000497887.1_5'Flank	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1409	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ATTTTGCGGCGTTTTTGTTCT	0.398																																						uc004etu.2		NaN																	0				ovary(3)	3						c.(4225-4227)CGC>TGC		THO complex 2							198.0	187.0	191.0					X																	122754808		1974	4141	6115	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122754808G>A	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4225C>T	X.37:g.122754808G>A	ENSP00000245838:p.Arg1409Cys					THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Missense_Mutation_p.R230C	p.R1409C	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			32	4257	-			1409			Lys-rich.		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.4225C>T	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739648	0.49045	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737	.	.	.	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000002	T	0.68430	0.3000	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.71537	-0.4563	9	0.66056	D	0.02	-6.0852	18.4395	0.90660	0.0:0.0:1.0:0.0	.	1409	Q8NI27	THOC2_HUMAN	C	1409;1409;1294	.	ENSP00000245838:R1409C	R	-	1	0	THOC2	122582489	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.216000	0.77974	2.295000	0.77249	0.600000	0.82982	CGC		0.398	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3				147	118	0	0	0	0.01441	0	147	118		
FRMD7	90167	broad.mit.edu	37	X	131233527	131233527	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:131233527C>T	ENST00000298542.4	-	3	349	c.174G>A	c.(172-174)gaG>gaA	p.E58E	FRMD7_ENST00000464296.1_Silent_p.E58E	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	58	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GCTTCAAAAGCTCCAGCCAAA	0.343																																						uc004ewn.2		NaN																	0				skin(1)	1						c.(172-174)GAG>GAA		FERM domain containing 7							117.0	112.0	114.0					X																	131233527		2203	4300	6503	SO:0001819	synonymous_variant	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131233527C>T	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.174G>A	X.37:g.131233527C>T						FRMD7_uc011muy.1_Silent_p.E58E	p.E58E	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			3	352	-	Acute lymphoblastic leukemia(192;0.000127)		58			FERM.		C0LLJ3|Q5JX99	Silent	SNP	ENST00000298542.4	37	c.174G>A	CCDS35397.1																																																																																				0.343	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1		NM_194277		50	117	0	0	0	0.01441	0	50	117		
PLXNB3	5365	broad.mit.edu	37	X	153038980	153038980	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:153038980C>T	ENST00000361971.5	+	19	3205	c.3091C>T	c.(3091-3093)Cga>Tga	p.R1031*	PLXNB3_ENST00000538966.1_Nonsense_Mutation_p.R1054*|SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538282.1_Nonsense_Mutation_p.R641*|PLXNB3_ENST00000538776.1_Nonsense_Mutation_p.R684*	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1031	IPT/TIG 3.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGGGTGGGCGACTGATCCG	0.687																																						uc004fii.2		NaN																	0				lung(1)	1						c.(3091-3093)CGA>TGA		plexin B3 isoform 1							21.0	22.0	22.0					X																	153038980		2189	4265	6454	SO:0001587	stop_gained	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153038980C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3091C>T	X.37:g.153038980C>T	ENSP00000355378:p.Arg1031*					PLXNB3_uc010nuk.2_Nonsense_Mutation_p.R1054*|PLXNB3_uc011mzd.1_Nonsense_Mutation_p.R670*|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.2_5'Flank	p.R1031*	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN			19	3265	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1031			IPT/TIG 3.|Extracellular (Potential).		B7Z3E6|F5H773|Q9HDA4	Nonsense_Mutation	SNP	ENST00000361971.5	37	c.3091C>T	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	36	5.603515	0.96626	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0592	0.80826	0.0:1.0:0.0:0.0	.	.	.	.	X	1054;1031;684;641	.	ENSP00000355378:R1031X	R	+	1	2	PLXNB3	152692174	0.661000	0.27430	0.989000	0.46669	0.012000	0.07955	1.294000	0.33365	2.039000	0.60335	0.436000	0.28706	CGA		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1				36	28	0	0	0	0.009718	0	36	28		
FAM43B	163933	broad.mit.edu	37	1	20880268	20880270	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:20880268_20880270delGAG	ENST00000332947.4	+	1	1337_1339	c.802_804delGAG	c.(802-804)gagdel	p.E272del		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	272										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		ggaggaggacgaggaggaggagg	0.744																																						uc001bdj.2		NaN																	0					0						c.(802-804)GAGdel		family with sequence similarity 43, member B				121,39,3262		29,0,63,5,29,1585						-0.4	1.0			5	4,54,6868		0,0,4,2,50,3407	no	codingComplex	FAM43B	NM_207334.2		29,0,67,7,79,4992	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8374,4.6756,2.1067				125,93,10130				SO:0001651	inframe_deletion	163933							g.chr1:20880268_20880270delGAG	AK126900	CCDS209.1	1p36.12	2014-08-14			ENSG00000183114	ENSG00000183114			31791	protein-coding gene	gene with protein product						21461611	Standard	NM_207334		Approved	FLJ44952	uc001bdj.3	Q6ZT52	OTTHUMG00000057491	ENST00000332947.4:c.802_804delGAG	1.37:g.20880277_20880279delGAG	ENSP00000331397:p.Glu272del						p.E272del	NM_207334	NP_997217	Q6ZT52	FA43B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)	1	1337_1339	+		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	272					A5PKT8|A5PL01	In_Frame_Del	DEL	ENST00000332947.4	37	c.802_804delGAG	CCDS209.1																																																																																				0.744	FAM43B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127759.1		NM_207334		7	11	NaN	NaN	NaN	NaN	NaN	7	11	---	---
GRHL3	57822	broad.mit.edu	37	1	24663111	24663112	+	Frame_Shift_Ins	INS	-	-	A	rs376281609		TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:24663111_24663112insA	ENST00000350501.5	+	4	533_534	c.406_407insA	c.(406-408)gagfs	p.E136fs	GRHL3_ENST00000342072.4_Frame_Shift_Ins_p.E43fs|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000356046.2_Frame_Shift_Ins_p.E90fs|GRHL3_ENST00000361548.4_Frame_Shift_Ins_p.E136fs|GRHL3_ENST00000236255.4_Frame_Shift_Ins_p.E141fs	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	136					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)		GATGAGCTTGGAGGGGGCCTTG	0.579																																						uc001biy.2		NaN																	0				ovary(1)	1						c.(421-423)GAGfs		sister-of-mammalian grainyhead protein isoform																																				SO:0001589	frameshift_variant	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24663111_24663112insA	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.407dupA	1.37:g.24663112_24663112dupA	ENSP00000288955:p.Glu136fs					GRHL3_uc001bix.2_Frame_Shift_Ins_p.E136fs|GRHL3_uc001biz.2_Frame_Shift_Ins_p.E43fs	p.E141fs	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)	4	467_468	+		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)	136					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Frame_Shift_Ins	INS	ENST00000350501.5	37	c.421_422insA	CCDS252.2																																																																																				0.579	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2		NM_021180		27	85	NaN	NaN	NaN	NaN	NaN	27	85	---	---
PVRL1	5818	broad.mit.edu	37	11	119549465	119549466	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:119549465_119549466insGA	ENST00000264025.3	-	2	619_620	c.89_90insTC	c.(88-90)tccfs	p.S30fs	PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Frame_Shift_Ins_p.S30fs|PVRL1_ENST00000340882.2_Frame_Shift_Ins_p.S30fs	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	30					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGACCACCTGGGAGTGGACGCC	0.594																																						uc001pwv.2		NaN																	0					0						c.(88-90)TCCfs		poliovirus receptor-related 1 isoform 1																																				SO:0001589	frameshift_variant	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119549465_119549466insGA	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.88_89dupTC	11.37:g.119549466_119549467dupGA	ENSP00000264025:p.Ser30fs					PVRL1_uc001pwu.1_Frame_Shift_Ins_p.S30fs|PVRL1_uc001pww.2_Frame_Shift_Ins_p.S30fs	p.S30fs	NM_002855	NP_002846	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	2	261_262	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	30					O75465|Q2M3D3|Q9HBE6|Q9HBW2	Frame_Shift_Ins	INS	ENST00000264025.3	37	c.89_90insTC	CCDS8426.1																																																																																				0.594	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1				6	12	NaN	NaN	NaN	NaN	NaN	6	12	---	---
DIS3	22894	broad.mit.edu	37	13	73337684	73337684	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr13:73337684delT	ENST00000377767.4	-	16	2132	c.2032delA	c.(2032-2034)attfs	p.I678fs	DIS3_ENST00000377780.4_Frame_Shift_Del_p.I648fs|DIS3_ENST00000545453.1_Frame_Shift_Del_p.I516fs	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	678					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TCCTCATGAATTTTTTTTGCA	0.358										Multiple Myeloma(4;0.011)																												uc001vix.3		NaN																	0				central_nervous_system(1)	1						c.(2032-2034)ATTfs		DIS3 mitotic control isoform a							61.0	64.0	63.0					13																	73337684		2202	4300	6502	SO:0001589	frameshift_variant	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73337684delT	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2032delA	13.37:g.73337684delT	ENSP00000366997:p.Ile678fs	Multiple Myeloma(4;0.011)				DIS3_uc001viy.3_Frame_Shift_Del_p.I648fs|DIS3_uc001viz.2_RNA	p.I678fs	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	16	2406	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	678					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Frame_Shift_Del	DEL	ENST00000377767.4	37	c.2032delA	CCDS9447.1																																																																																				0.358	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2		NM_014953		7	76	NaN	NaN	NaN	NaN	NaN	7	76	---	---
CX3CL1	6376	broad.mit.edu	37	16	57416702	57416708	+	Frame_Shift_Del	DEL	ACCATGG	ACCATGG	-			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr16:57416702_57416708delACCATGG	ENST00000006053.6	+	3	1063_1069	c.952_958delACCATGG	c.(952-960)accatggacfs	p.TMD318fs	CX3CL1_ENST00000565912.1_Frame_Shift_Del_p.TMD280fs|CX3CL1_ENST00000563383.1_Frame_Shift_Del_p.TMD324fs	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	318	Mucin-like stalk.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CATCCATGCCACCATGGACCCCCAGAG	0.662																																						uc002eli.2		NaN																	0					0						c.(952-960)ACCATGGACfs		chemokine (C-X3-C motif) ligand 1 precursor																																				SO:0001589	frameshift_variant	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57416702_57416708delACCATGG	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.952_958delACCATGG	16.37:g.57416702_57416708delACCATGG	ENSP00000006053:p.Thr318fs						p.T318fs	NM_002996	NP_002987	P78423	X3CL1_HUMAN			3	1019_1025	+			318_320			Mucin-like stalk.|Extracellular (Potential).		O00672	Frame_Shift_Del	DEL	ENST00000006053.6	37	c.952_958delACCATGG	CCDS10779.1																																																																																				0.662	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3		NM_002996		17	72	NaN	NaN	NaN	NaN	NaN	17	72	---	---
NKG7	4818	broad.mit.edu	37	19	51875242	51875244	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:51875242_51875244delAGG	ENST00000221978.5	-	3	568_570	c.389_391delCCT	c.(388-393)tcctgg>tgg	p.S130del	CLDND2_ENST00000291715.1_5'Flank|NKG7_ENST00000595217.1_In_Frame_Del_p.P124del|NKG7_ENST00000600427.1_Intron	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	130						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TAGAAGGACCAGGAGAAGAAGGT	0.611																																						uc002pwj.2		NaN																	0				central_nervous_system(1)	1						c.(388-393)TCCTGG>TGG		natural killer cell group 7 sequence																																				SO:0001651	inframe_deletion	4818					integral to plasma membrane		g.chr19:51875242_51875244delAGG		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"""granule membrane protein 17"""	606008	"""natural killer cell group 7 sequence"""			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.389_391delCCT	19.37:g.51875242_51875244delAGG	ENSP00000221978:p.Ser130del					CLDND2_uc002pwi.1_5'Flank|NKG7_uc002pwk.2_In_Frame_Del_p.S95del	p.S130del	NM_005601	NP_005592	Q16617	NKG7_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	3	560_562	-		all_neural(266;0.0199)	130						In_Frame_Del	DEL	ENST00000221978.5	37	c.389_391delCCT	CCDS12830.1																																																																																				0.611	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2		NM_005601		26	74	NaN	NaN	NaN	NaN	NaN	26	74	---	---
WDFY3	23001	broad.mit.edu	37	4	85611708	85611709	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr4:85611708_85611709delCA	ENST00000295888.4	-	61	9720_9721	c.9313_9314delTG	c.(9313-9315)tggfs	p.W3105fs	RN7SL552P_ENST00000462094.2_RNA|WDFY3_ENST00000322366.6_Frame_Shift_Del_p.W3088fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3105	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCCCATCTCCCACACACACACA	0.51																																						uc003hpd.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(9313-9315)TGGfs		WD repeat and FYVE domain containing 3 isoform																																				SO:0001589	frameshift_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85611708_85611709delCA	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9313_9314delTG	4.37:g.85611718_85611719delCA	ENSP00000295888:p.Trp3105fs						p.W3105fs	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	61	9721_9722	-		Hepatocellular(203;0.114)	3105			WD 1.		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Del	DEL	ENST00000295888.4	37	c.9313_9314delTG	CCDS3609.1																																																																																				0.510	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991		7	114	NaN	NaN	NaN	NaN	NaN	7	114	---	---
KDM3B	51780	broad.mit.edu	37	5	137722024	137722028	+	Frame_Shift_Del	DEL	GGACT	GGACT	-			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr5:137722024_137722028delGGACT	ENST00000314358.5	+	7	1294_1298	c.1094_1098delGGACT	c.(1093-1098)aggactfs	p.RT365fs	KDM3B_ENST00000394866.1_Frame_Shift_Del_p.RT21fs|KDM3B_ENST00000542866.1_5'Flank	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	365					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GAAAACGGCAGGACTCTGGTGGTGC	0.551																																						uc003lcy.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(1093-1098)AGGACTfs		jumonji domain containing 1B																																				SO:0001589	frameshift_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137722024_137722028delGGACT	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1094_1098delGGACT	5.37:g.137722024_137722028delGGACT	ENSP00000326563:p.Arg365fs					KDM3B_uc010jew.1_Frame_Shift_Del_p.R21fs|KDM3B_uc011cys.1_5'UTR	p.R365fs	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			7	1294_1298	+			365_366					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Frame_Shift_Del	DEL	ENST00000314358.5	37	c.1094_1098delGGACT	CCDS34242.1																																																																																				0.551	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1		NM_016604		64	150	NaN	NaN	NaN	NaN	NaN	64	150	---	---
RUFY1	80230	broad.mit.edu	37	5	178977642	178977642	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr5:178977642delG	ENST00000319449.4	+	1	84	c.72delG	c.(70-72)ccgfs	p.P24fs	RUFY1_ENST00000377001.2_Frame_Shift_Del_p.P24fs	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	24					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			agccggggccggggcCCGGGT	0.746										HNSCC(44;0.11)																												uc003mka.1		NaN																	0				ovary(4)|breast(1)	5						c.(70-72)CCGfs		RUN and FYVE domain-containing 1 isoform a							3.0	4.0	4.0					5																	178977642		1521	3608	5129	SO:0001589	frameshift_variant	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:178977642delG	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.72delG	5.37:g.178977642delG	ENSP00000325594:p.Pro24fs	HNSCC(44;0.11)					p.P24fs	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	72	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	24					Q59FF3|Q71S93|Q9H6I3	Frame_Shift_Del	DEL	ENST00000319449.4	37	c.72delG	CCDS4445.2																																																																																				0.746	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2		NM_001040451		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
GDF6	392255	broad.mit.edu	37	8	97157110	97157111	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr8:97157110_97157111insA	ENST00000287020.5	-	2	1147_1148	c.1048_1049insT	c.(1048-1050)tccfs	p.S350fs		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	350					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GCGTAGCCTGGACTTCTTGCCG	0.693																																						uc003yhp.2		NaN																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(1048-1050)TCCfs		growth differentiation factor 6 precursor																																				SO:0001589	frameshift_variant	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97157110_97157111insA		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.1049dupT	8.37:g.97157111_97157111dupA	ENSP00000287020:p.Ser350fs						p.S350fs	NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN			2	1148_1149	-	Breast(36;2.67e-05)		350					Q6PI58	Frame_Shift_Ins	INS	ENST00000287020.5	37	c.1048_1049insT	CCDS34926.1																																																																																				0.693	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2		NM_001001557		8	13	NaN	NaN	NaN	NaN	NaN	8	13	---	---
NTRK2	4915	broad.mit.edu	37	9	87356831	87356837	+	Frame_Shift_Del	DEL	TAATTTA	TAATTTA	-			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr9:87356831_87356837delTAATTTA	ENST00000323115.4	+	9	1537_1543	c.1184_1190delTAATTTA	c.(1183-1191)gtaatttatfs	p.VIY395fs	NTRK2_ENST00000395866.2_Frame_Shift_Del_p.VIY239fs|NTRK2_ENST00000376213.1_Frame_Shift_Del_p.VIY395fs|NTRK2_ENST00000376208.1_Frame_Shift_Del_p.VIY395fs|NTRK2_ENST00000277120.3_Frame_Shift_Del_p.VIY395fs|NTRK2_ENST00000376214.1_Frame_Shift_Del_p.VIY395fs|NTRK2_ENST00000359847.3_Frame_Shift_Del_p.VIY395fs|NTRK2_ENST00000304053.6_Frame_Shift_Del_p.VIY395fs|NTRK2_ENST00000395882.1_Frame_Shift_Del_p.VIY395fs			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	395					activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TATCCTGATGTAATTTATGAAGGTAGC	0.309										TSP Lung(25;0.17)																												uc004aoa.1		NaN																	0				lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						c.(1183-1191)GTAATTTATfs		neurotrophic tyrosine kinase, receptor, type 2																																				SO:0001589	frameshift_variant	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87356831_87356837delTAATTTA	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1184_1190delTAATTTA	9.37:g.87356831_87356837delTAATTTA	ENSP00000314586:p.Val395fs	TSP Lung(25;0.17)				NTRK2_uc004anv.1_Frame_Shift_Del_p.V382fs|NTRK2_uc004any.1_Frame_Shift_Del_p.V395fs|NTRK2_uc004anz.1_Frame_Shift_Del_p.V395fs|NTRK2_uc011lsz.1_Frame_Shift_Del_p.V395fs|NTRK2_uc011lta.1_Frame_Shift_Del_p.V395fs|NTRK2_uc004aob.1_Frame_Shift_Del_p.V395fs|NTRK2_uc011ltb.1_Frame_Shift_Del_p.V239fs	p.V395fs	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN			12	2122_2128	+			395_397			Extracellular (Potential).		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Frame_Shift_Del	DEL	ENST00000323115.4	37	c.1184_1190delTAATTTA	CCDS35050.1																																																																																				0.309	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1				7	19	NaN	NaN	NaN	NaN	NaN	7	19	---	---
DDX26B	203522	broad.mit.edu	37	X	134680317	134680317	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:134680317delT	ENST00000370752.4	+	4	686	c.352delT	c.(352-354)tttfs	p.F119fs	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	119	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAAATCCATTTTTTTTAGA	0.274																																						uc004eyw.3		NaN																	0					0						c.(352-354)TTTfs		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							39.0	38.0	39.0					X																	134680317		2198	4288	6486	SO:0001589	frameshift_variant	203522							g.chrX:134680317delT	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.352delT	X.37:g.134680317delT	ENSP00000359788:p.Phe119fs						p.F118fs	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN			4	715	+	Acute lymphoblastic leukemia(192;6.56e-05)		118			VWFA.		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Frame_Shift_Del	DEL	ENST00000370752.4	37	c.352delT	CCDS35401.1																																																																																				0.274	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1		NM_182540		34	41	NaN	NaN	NaN	NaN	NaN	34	41	---	---
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000355149.3_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						uc004fel.2		NaN																	0				large_intestine(2)|ovary(1)	3						c.(154-159)ACCACA>ACA		CD99 antigen-like 2 isoform E3'-E4'-E3-E4																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_uc004fek.2_5'Flank|CD99L2_uc004fem.2_Intron|CD99L2_uc004fen.2_Intron|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_In_Frame_Del_p.52_53TT>T	p.52_53TT>T	NM_031462	NP_113650	Q8TCZ2	C99L2_HUMAN			3	274_276	-	Acute lymphoblastic leukemia(192;6.56e-05)		52_53			Extracellular (Potential).|Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1		NM_031462		7	457	NaN	NaN	NaN	NaN	NaN	7	457	---	---
