#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CDK11A	728642	broad.mit.edu	37	1	1635057	1635057	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:1635057C>T	ENST00000378633.1	-	18	2006	c.1927G>A	c.(1927-1929)Ggg>Agg	p.G643R	CDK11A_ENST00000495016.1_5'Flank|CDK11A_ENST00000378638.2_Missense_Mutation_p.G606R|CDK11A_ENST00000356200.3_Missense_Mutation_p.G606R|CDK11A_ENST00000358779.5_Missense_Mutation_p.G630R|CDK11A_ENST00000404249.3_Missense_Mutation_p.G640R|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000357760.2_Missense_Mutation_p.G639R			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	643	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CTGGGGGTCCCCAGCTCCTGA	0.572																																					Pancreas(186;965 2119 30274 40311 50569)	uc009vks.2		NA																	0				stomach(1)	1						c.(1918-1920)GGG>AGG		cell division cycle 2-like 2 isoform 1							25.0	34.0	31.0					1																	1635057		1839	4097	5936	SO:0001583	missense	728642				apoptosis|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1635057C>T	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.1927G>A	1.37:g.1635057C>T	ENSP00000367900:p.Gly643Arg					CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_Missense_Mutation_p.G147R|CDK11A_uc009vkp.2_Missense_Mutation_p.G257R|CDK11A_uc009vkq.2_RNA|CDK11A_uc009vkr.2_Missense_Mutation_p.G630R	p.G640R	NM_024011	NP_076916	Q9UQ88	CD11A_HUMAN			18	2026	-			643			Protein kinase.		O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37	c.1918G>A		.	.	.	.	.	.	.	.	.	.	-	12.98	2.099833	0.37048	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630	T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44	2.68	2.68	0.31781	.	0.000000	0.85682	D	0.000000	T	0.76399	0.3982	M	0.92970	3.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	T	0.82564	-0.0394	10	0.87932	D	0	.	12.3368	0.55071	0.0:1.0:0.0:0.0	.	640;630;257	Q9UQ88-2;Q9UQ88-4;Q9UQ88-5	.;.;.	R	606;640;639;630;643;606;606	ENSP00000348529:G606R;ENSP00000384442:G640R;ENSP00000350403:G639R;ENSP00000351629:G630R;ENSP00000367900:G643R;ENSP00000367905:G606R	ENSP00000348529:G606R	G	-	1	0	CDK11A	1624917	1.000000	0.71417	0.996000	0.52242	0.248000	0.25809	6.774000	0.75012	1.523000	0.49018	0.423000	0.28283	GGG		0.572	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		3	7	0	0	0	0	3	7				
FBLIM1	54751	broad.mit.edu	37	1	16096922	16096922	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:16096922A>G	ENST00000375766.3	+	6	1200	c.560A>G	c.(559-561)cAc>cGc	p.H187R	FBLIM1_ENST00000441801.2_Missense_Mutation_p.H187R|FBLIM1_ENST00000375771.1_Missense_Mutation_p.H187R|FBLIM1_ENST00000400773.1_Missense_Mutation_p.H90R|FBLIM1_ENST00000332305.5_Missense_Mutation_p.H90R	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	187	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)	p.H187R(1)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GCCTTCTGCCACAAGACCGTG	0.637																																						uc001axd.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	skin(1)	1						c.(559-561)CAC>CGC		filamin-binding LIM protein-1 isoform a							68.0	62.0	64.0					1																	16096922		2203	4300	6503	SO:0001583	missense	54751				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	g.chr1:16096922A>G		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.560A>G	1.37:g.16096922A>G	ENSP00000364921:p.His187Arg					FBLIM1_uc001axe.1_Missense_Mutation_p.H187R|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.H187R|FBLIM1_uc001axh.1_Missense_Mutation_p.H90R|FBLIM1_uc001axi.1_Missense_Mutation_p.H90R	p.H187R	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	7	1003	+		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	187			LIM zinc-binding 1.		B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Missense_Mutation	SNP	ENST00000375766.3	37	c.560A>G	CCDS163.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417433	0.62622	.	.	ENSG00000162458	ENST00000375771;ENST00000375766;ENST00000400773;ENST00000502739;ENST00000441801;ENST00000332305	D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	5.24	5.24	0.73138	Zinc finger, LIM-type (5);	0.174515	0.50627	D	0.000104	D	0.87156	0.6107	N	0.17474	0.49	0.49389	D	0.999784	P;P;D	0.89917	0.566;0.812;1.0	B;P;D	0.91635	0.332;0.58;0.999	D	0.85305	0.1075	10	0.22706	T	0.39	.	14.641	0.68726	1.0:0.0:0.0:0.0	.	90;187;187	Q8WUP2-3;Q8WUP2-2;Q8WUP2	.;.;FBLI1_HUMAN	R	187;187;90;90;187;90	ENSP00000364926:H187R;ENSP00000364921:H187R;ENSP00000383584:H90R;ENSP00000424920:H90R;ENSP00000416387:H187R;ENSP00000364920:H90R	ENSP00000364920:H90R	H	+	2	0	FBLIM1	15969509	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.461000	0.73522	2.116000	0.64780	0.482000	0.46254	CAC		0.637	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215		35	50	0	0	0	0	35	50				
FBLIM1	54751	broad.mit.edu	37	1	16097009	16097009	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:16097009G>A	ENST00000375766.3	+	6	1287	c.647G>A	c.(646-648)cGc>cAc	p.R216H	FBLIM1_ENST00000441801.2_Missense_Mutation_p.R216H|FBLIM1_ENST00000375771.1_Missense_Mutation_p.R216H|FBLIM1_ENST00000400773.1_Missense_Mutation_p.R119H|FBLIM1_ENST00000332305.5_Missense_Mutation_p.R119H	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	216	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)	p.R216H(2)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		ACCTGCCGCCGCCAGCTGGCT	0.647																																						uc001axd.1		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|prostate(1)	skin(1)	1						c.(646-648)CGC>CAC		filamin-binding LIM protein-1 isoform a							48.0	46.0	47.0					1																	16097009		2203	4300	6503	SO:0001583	missense	54751				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	g.chr1:16097009G>A		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.647G>A	1.37:g.16097009G>A	ENSP00000364921:p.Arg216His					FBLIM1_uc001axe.1_Missense_Mutation_p.R216H|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.R216H|FBLIM1_uc001axh.1_Missense_Mutation_p.R119H|FBLIM1_uc001axi.1_Missense_Mutation_p.R119H	p.R216H	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	7	1090	+		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	216			LIM zinc-binding 1.		B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Missense_Mutation	SNP	ENST00000375766.3	37	c.647G>A	CCDS163.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857153	0.32791	.	.	ENSG00000162458	ENST00000375771;ENST00000375766;ENST00000400773;ENST00000502739;ENST00000441801;ENST00000332305	D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	5.51	2.16	0.27623	Zinc finger, LIM-type (5);	0.588051	0.18041	N	0.153605	T	0.80999	0.4732	L	0.46885	1.475	0.36761	D	0.883276	P;B;B	0.35700	0.516;0.207;0.059	B;B;B	0.32677	0.15;0.04;0.039	T	0.81799	-0.0767	10	0.62326	D	0.03	.	10.0277	0.42081	0.2751:0.0:0.7249:0.0	.	119;216;216	Q8WUP2-3;Q8WUP2-2;Q8WUP2	.;.;FBLI1_HUMAN	H	216;216;119;119;216;119	ENSP00000364926:R216H;ENSP00000364921:R216H;ENSP00000383584:R119H;ENSP00000424920:R119H;ENSP00000416387:R216H;ENSP00000364920:R119H	ENSP00000364920:R119H	R	+	2	0	FBLIM1	15969596	0.977000	0.34250	1.000000	0.80357	0.800000	0.45204	0.778000	0.26732	0.819000	0.34492	-0.216000	0.12614	CGC		0.647	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215		22	51	0	0	0	0	22	51				
UBR4	23352	broad.mit.edu	37	1	19436918	19436918	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:19436918G>T	ENST00000375254.3	-	80	11960	c.11933C>A	c.(11932-11934)tCt>tAt	p.S3978Y	UBR4_ENST00000375217.2_Missense_Mutation_p.S3971Y|UBR4_ENST00000375267.2_Missense_Mutation_p.S3978Y|UBR4_ENST00000375226.2_Missense_Mutation_p.S3954Y	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3978					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S3978Y(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTTGGAGATAGAATCCGTCAG	0.537																																						uc001bbi.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(11932-11934)TCT>TAT		retinoblastoma-associated factor 600							72.0	69.0	70.0					1																	19436918		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19436918G>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11933C>A	1.37:g.19436918G>T	ENSP00000364403:p.Ser3978Tyr						p.S3978Y	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	80	11937	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3978					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.11933C>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901091	0.92035	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.76435	0.3987	L	0.54323	1.7	0.80722	D	1	D	0.61697	0.99	D	0.71656	0.974	T	0.76493	-0.2939	10	0.66056	D	0.02	.	18.8256	0.92117	0.0:0.0:1.0:0.0	.	3978	Q5T4S7	UBR4_HUMAN	Y	3978;3978;3971;3954	ENSP00000364403:S3978Y;ENSP00000364416:S3978Y;ENSP00000364365:S3971Y;ENSP00000364374:S3954Y	ENSP00000364365:S3971Y	S	-	2	0	UBR4	19309505	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	9.238000	0.95380	2.793000	0.96121	0.655000	0.94253	TCT		0.537	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		28	60	1	0	1.07e-15	1.25e-15	28	60				
RAP1GAP	5909	broad.mit.edu	37	1	21924900	21924900	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:21924900G>C	ENST00000374765.4	-	22	2072	c.1872C>G	c.(1870-1872)agC>agG	p.S624R	RAP1GAP_ENST00000374761.2_Missense_Mutation_p.S655R|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.S709R|RAP1GAP_ENST00000542643.2_Missense_Mutation_p.S650R|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.S688R	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	624					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TACCTGGGGAGCTGCCCCCAC	0.622																																						uc001bex.2		NA																	0				breast(2)|ovary(1)	3						c.(1870-1872)AGC>AGG		RAP1 GTPase activating protein isoform c							91.0	72.0	78.0					1																	21924900		2203	4300	6503	SO:0001583	missense	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21924900G>C	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1872C>G	1.37:g.21924900G>C	ENSP00000363897:p.Ser624Arg					RAP1GAP_uc001bev.2_Missense_Mutation_p.S709R|RAP1GAP_uc001bew.2_Missense_Mutation_p.S688R|RAP1GAP_uc001bey.2_Missense_Mutation_p.S650R	p.S624R	NM_002885	NP_002876	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	22	2130	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	624					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.1872C>G	CCDS218.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618186	0.46736	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763	D;D;D;D;D	0.95001	-2.66;-2.66;-2.83;-2.65;-3.58	4.76	3.83	0.44106	.	1.234850	0.06220	N	0.686559	D	0.91459	0.7304	L	0.32530	0.975	0.40415	D	0.979789	B;B;B;B	0.31548	0.328;0.001;0.002;0.001	B;B;B;B	0.29785	0.107;0.001;0.003;0.001	T	0.81525	-0.0893	10	0.62326	D	0.03	-12.1132	11.8903	0.52624	0.0:0.0:0.8239:0.1761	.	650;624;654;624	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	R	688;655;650;624;654	ENSP00000290101:S688R;ENSP00000363893:S655R;ENSP00000441661:S650R;ENSP00000363897:S624R;ENSP00000363895:S654R	ENSP00000290101:S688R	S	-	3	2	RAP1GAP	21797487	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.253000	0.58791	0.967000	0.38186	0.561000	0.74099	AGC		0.622	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		4	91	0	0	0	0	4	91				
TRIM63	84676	broad.mit.edu	37	1	26392775	26392775	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:26392775T>G	ENST00000374272.3	-	2	454	c.316A>C	c.(316-318)Aaa>Caa	p.K106Q	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	106	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CACTCCTGTTTGTAGATGTCG	0.622																																						uc001bli.1		NA																	0				kidney(1)	1						c.(316-318)AAA>CAA		muscle specific ring finger protein 1							139.0	105.0	116.0					1																	26392775		2203	4300	6503	SO:0001583	missense	84676					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding	g.chr1:26392775T>G	AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	16007	protein-coding gene	gene with protein product	"""muscle-specific RING finger protein 1"", ""iris ring finger protein"", ""striated muscle RING zinc finger protein"""	606131	"""ring finger protein 28"", ""tripartite motif-containing 63"", ""tripartite motif containing 63"""	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.316A>C	1.37:g.26392775T>G	ENSP00000363390:p.Lys106Gln						p.K106Q	NM_032588	NP_115977	Q969Q1	TRI63_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	2	452	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	106			Interaction with TTN.		B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	ENST00000374272.3	37	c.316A>C	CCDS273.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.966397	0.74131	.	.	ENSG00000158022	ENST00000374272	T	0.44083	0.93	5.64	5.64	0.86602	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.44456	0.1294	L	0.47190	1.495	0.58432	D	0.999997	P	0.41131	0.739	P	0.45232	0.474	T	0.27123	-1.0083	10	0.33141	T	0.24	.	15.5318	0.75970	0.0:0.0:0.0:1.0	.	106	Q969Q1	TRI63_HUMAN	Q	106	ENSP00000363390:K106Q	ENSP00000363390:K106Q	K	-	1	0	TRIM63	26265362	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.033000	0.88852	2.145000	0.66743	0.533000	0.62120	AAA		0.622	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1	NM_032588		3	162	0	0	0	0	3	162				
TMEM234	56063	broad.mit.edu	37	1	32682796	32682796	+	Intron	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:32682796G>A	ENST00000344461.3	-	4	344				TMEM234_ENST00000485689.1_Intron|TMEM234_ENST00000373593.1_Missense_Mutation_p.S131F|TMEM234_ENST00000309777.6_Intron|TMEM234_ENST00000545122.1_Intron			Q8WY98	TM234_HUMAN	transmembrane protein 234							integral component of membrane (GO:0016021)				kidney(2)|lung(3)	5						TTCTGGGAAGGAACTAACACA	0.532																																						uc009vub.1		NA																	0					0						c.(391-393)TCC>TTC		RecName: Full=UPF0546 membrane protein C1orf91;																																				SO:0001627	intron_variant	56063					integral to membrane		g.chr1:32682796G>A	AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 91"""	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742	ENST00000344461.3:c.328+63C>T	1.37:g.32682796G>A						C1orf91_uc001buo.3_Intron|C1orf91_uc001bup.3_Intron|C1orf91_uc010oha.1_Intron|C1orf91_uc001buq.3_Intron	p.S131F			Q8WY98	TM234_HUMAN			4	395	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	Error:Variant_position_missing_in_Q8WY98_after_alignment					B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Missense_Mutation	SNP	ENST00000344461.3	37	c.392C>T		.	.	.	.	.	.	.	.	.	.	G	13.41	2.229213	0.39399	.	.	ENSG00000160055	ENST00000373593	.	.	.	5.22	-1.82	0.07857	.	7.616150	0.00166	N	0.000000	T	0.28665	0.0710	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.19289	-1.0310	8	0.87932	D	0	.	0.4153	0.00447	0.3241:0.1286:0.2845:0.2627	.	131	Q8WY98-2	.	F	131	.	ENSP00000362695:S131F	S	-	2	0	TMEM234	32455383	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	0.208000	0.17415	-0.543000	0.06240	-0.302000	0.09304	TCC		0.532	TMEM234-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000092260.2	NM_019118		16	22	0	0	0	0	16	22				
PLK3	1263	broad.mit.edu	37	1	45271192	45271192	+	Missense_Mutation	SNP	C	C	A	rs369647110		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:45271192C>A	ENST00000372201.4	+	15	2022	c.1783C>A	c.(1783-1785)Ctc>Atc	p.L595I	PLK3_ENST00000465443.1_3'UTR|BTBD19_ENST00000450269.1_5'Flank|BTBD19_ENST00000453418.1_5'Flank	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	595	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.L556I(1)		endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CAAGCTGATTCTCAGTGGCTG	0.597																																						uc001cmn.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(1783-1785)CTC>ATC		polo-like kinase 3							218.0	214.0	215.0					1																	45271192		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45271192C>A	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1783C>A	1.37:g.45271192C>A	ENSP00000361275:p.Leu595Ile					PLK3_uc001cmo.2_RNA|BTBD19_uc010old.1_5'Flank|BTBD19_uc010ole.1_5'Flank	p.L595I	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN			15	1883	+	Acute lymphoblastic leukemia(166;0.155)		595			POLO box 2.		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1783C>A	CCDS515.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335036	0.41398	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.41400	1.0	5.83	5.83	0.93111	POLO box duplicated domain (2);	.	.	.	.	T	0.43897	0.1268	L	0.41632	1.29	0.31771	N	0.632073	P	0.45396	0.857	P	0.48400	0.576	T	0.45585	-0.9251	9	0.29301	T	0.29	-23.2946	14.4328	0.67261	0.148:0.852:0.0:0.0	.	595	Q9H4B4	PLK3_HUMAN	I	595;570	ENSP00000361275:L595I	ENSP00000361275:L595I	L	+	1	0	PLK3	45043779	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.533000	0.45667	2.750000	0.94351	0.655000	0.94253	CTC		0.597	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		173	217	1	0	1.49e-95	1.81e-95	173	217				
UROD	7389	broad.mit.edu	37	1	45481099	45481099	+	Missense_Mutation	SNP	A	A	G	rs142869188		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:45481099A>G	ENST00000246337.4	+	10	1152	c.1033A>G	c.(1033-1035)Atg>Gtg	p.M345V	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	345					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)	p.M345V(1)		endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTATCCTGACATGGACCCAGA	0.527									Porphyria Cutanea Tarda, Type II																													uc001cna.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(1033-1035)ATG>GTG		uroporphyrinogen decarboxylase		A	VAL/MET	0,4406		0,0,2203	138.0	117.0	125.0		1033	5.2	1.0	1	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	missense	UROD	NM_000374.4	21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	345/368	45481099	1,13005	2203	4300	6503	SO:0001583	missense	7389	Porphyria_Cutanea_Tarda_Type_II	Familial Cancer Database	PCT-II		cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity	g.chr1:45481099A>G	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.1033A>G	1.37:g.45481099A>G	ENSP00000246337:p.Met345Val					UROD_uc001cnb.1_Missense_Mutation_p.M310V|UROD_uc001cnc.1_Missense_Mutation_p.M250V	p.M345V	NM_000374	NP_000365	P06132	DCUP_HUMAN			10	1141	+	Acute lymphoblastic leukemia(166;0.155)		345					A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Missense_Mutation	SNP	ENST00000246337.4	37	c.1033A>G	CCDS518.1	.	.	.	.	.	.	.	.	.	.	A	7.576	0.667827	0.14710	0.0	1.16E-4	ENSG00000126088	ENST00000246337	D	0.93247	-3.19	5.19	5.19	0.71726	Uroporphyrinogen decarboxylase (URO-D) (1);	0.000000	0.85682	D	0.000000	D	0.84840	0.5561	N	0.13003	0.285	0.58432	D	0.999999	B	0.23128	0.08	B	0.21151	0.033	T	0.80246	-0.1462	10	0.02654	T	1	-23.4521	15.2057	0.73177	1.0:0.0:0.0:0.0	.	345	P06132	DCUP_HUMAN	V	345	ENSP00000246337:M345V	ENSP00000246337:M345V	M	+	1	0	UROD	45253686	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.710000	0.74670	2.188000	0.69820	0.533000	0.62120	ATG		0.527	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024803.1	NM_000374		43	54	0	0	0	0	43	54				
MAST2	23139	broad.mit.edu	37	1	46471917	46471917	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:46471917C>G	ENST00000361297.2	+	8	1035	c.752C>G	c.(751-753)tCa>tGa	p.S251*	MAST2_ENST00000372009.2_Nonsense_Mutation_p.S251*	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTCTAGTCATCATGCTCCTCA	0.478																																						uc001cov.2		NA																	0				ovary(5)|lung(3)|stomach(2)|breast(1)	11						c.(751-753)TCA>TGA		microtubule associated serine/threonine kinase							140.0	142.0	141.0					1																	46471917		1996	4185	6181	SO:0001587	stop_gained	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46471917C>G	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.752C>G	1.37:g.46471917C>G	ENSP00000354671:p.Ser251*					MAST2_uc001cow.2_Nonsense_Mutation_p.S251*|MAST2_uc001cox.1_Nonsense_Mutation_p.S115*|MAST2_uc001coy.1_Translation_Start_Site|MAST2_uc001coz.1_Nonsense_Mutation_p.S136*|MAST2_uc009vya.2_Nonsense_Mutation_p.S173*|MAST2_uc001cpa.2_RNA	p.S251*	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN			8	1035	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		251						Nonsense_Mutation	SNP	ENST00000361297.2	37	c.752C>G	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	C	39	7.845953	0.98522	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000456625;ENST00000372008	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.174	19.6101	0.95602	0.0:1.0:0.0:0.0	.	.	.	.	X	251;251;115;136	.	ENSP00000354671:S251X	S	+	2	0	MAST2	46244504	1.000000	0.71417	0.976000	0.42696	0.925000	0.55904	7.487000	0.81328	2.642000	0.89623	0.563000	0.77884	TCA		0.478	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		7	282	0	0	0	0	7	282				
DOCK7	85440	broad.mit.edu	37	1	62954604	62954604	+	Splice_Site	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:62954604C>A	ENST00000340370.5	-	41	5418		c.e41+1		DOCK7_ENST00000251157.5_Splice_Site	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7						activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GGAATCATTACCTGATGAACA	0.353																																						uc001daq.2		NA																	1	Unknown(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.e42+1		dedicator of cytokinesis 7							124.0	127.0	126.0					1																	62954604		2203	4300	6503	SO:0001630	splice_region_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62954604C>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5400+1G>T	1.37:g.62954604C>A						DOCK7_uc001dan.2_Splice_Site_p.Q1683_splice|DOCK7_uc001dao.2_Splice_Site_p.Q1683_splice|DOCK7_uc001dap.2_Splice_Site_p.Q1800_splice|DOCK7_uc001dam.2_Splice_Site_p.Q1002_splice|DOCK7_uc010oov.1_Splice_Site_p.Q561_splice	p.Q1822_splice	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			42	5500	-								Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Splice_Site	SNP	ENST00000340370.5	37	c.5466_splice	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920497	0.92249	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000454575;ENST00000395441	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK7	62727192	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.487000	0.81328	2.814000	0.96858	0.591000	0.81541	.		0.353	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	Intron	18	67	1	0	1.16e-05	1.29e-05	18	67				
LRRIQ3	127255	broad.mit.edu	37	1	74492542	74492542	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:74492542C>T	ENST00000395089.1	-	7	1829	c.1830G>A	c.(1828-1830)gtG>gtA	p.V610V	LRRIQ3_ENST00000354431.4_Silent_p.V610V			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	610								p.V610V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AATTTGTTTTCACAATTGCTA	0.284																																						uc001dfy.3		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(1828-1830)GTG>GTA		leucine-rich repeats and IQ motif containing 3							114.0	105.0	108.0					1																	74492542		1809	4054	5863	SO:0001819	synonymous_variant	127255							g.chr1:74492542C>T	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1830G>A	1.37:g.74492542C>T						LRRIQ3_uc001dfz.3_RNA	p.V610V	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			8	2022	-			610			Potential.		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.1830G>A	CCDS41350.1																																																																																				0.284	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		26	38	0	0	0	0	26	38				
CELSR2	1952	broad.mit.edu	37	1	109794495	109794495	+	Silent	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:109794495G>C	ENST00000271332.3	+	1	1855	c.1794G>C	c.(1792-1794)gtG>gtC	p.V598V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	598	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTGTCAGCGTGACTGTCCTGG	0.562																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	0				ovary(4)|lung(3)|skin(1)	8						c.(1792-1794)GTG>GTC		cadherin EGF LAG seven-pass G-type receptor 2							135.0	115.0	122.0					1																	109794495		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109794495G>C	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1794G>C	1.37:g.109794495G>C							p.V598V	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	1855	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	598			Cadherin 4.|Extracellular (Potential).		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.1794G>C	CCDS796.1																																																																																				0.562	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		4	77	0	0	0	0	4	77				
C1orf162	128346	broad.mit.edu	37	1	112020686	112020686	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:112020686G>A	ENST00000343534.5	+	6	659	c.409G>A	c.(409-411)Gag>Aag	p.E137K	C1orf162_ENST00000369718.3_Missense_Mutation_p.E112K|C1orf162_ENST00000464591.1_3'UTR	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	137						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		TCACTTGGCTGAGAACCATTC	0.428																																						uc001ebe.2		NA																	0				ovary(1)	1						c.(409-411)GAG>AAG		hypothetical protein LOC128346							100.0	95.0	97.0					1																	112020686		2203	4300	6503	SO:0001583	missense	128346					integral to membrane		g.chr1:112020686G>A	BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110			28344	protein-coding gene	gene with protein product						12477932	Standard	XM_005270475		Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.409G>A	1.37:g.112020686G>A	ENSP00000344218:p.Glu137Lys						p.E137K	NM_174896	NP_777556	Q8NEQ5	CA162_HUMAN		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)	6	469	+		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	137					Q5QNZ1	Missense_Mutation	SNP	ENST00000343534.5	37	c.409G>A	CCDS837.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.558532	0.45590	.	.	ENSG00000143110	ENST00000343534;ENST00000369718	D;D	0.96168	-3.93;-3.93	5.09	-4.55	0.03441	.	1.551970	0.03739	N	0.254634	T	0.76133	0.3945	N	0.24115	0.695	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.76219	-0.3039	10	0.02654	T	1	0.0391	7.676	0.28486	0.6187:0.1404:0.2409:0.0	.	137	Q8NEQ5	CA162_HUMAN	K	137;112	ENSP00000344218:E137K;ENSP00000358732:E112K	ENSP00000344218:E137K	E	+	1	0	C1orf162	111822209	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.651000	0.05372	-0.706000	0.05028	-0.150000	0.13652	GAG		0.428	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032471.1	NM_174896		6	151	0	0	0	0	6	151				
TSPAN2	10100	broad.mit.edu	37	1	115604779	115604779	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:115604779C>T	ENST00000369516.2	-	3	278	c.247G>A	c.(247-249)Gag>Aag	p.E83K	TSPAN2_ENST00000369515.2_Missense_Mutation_p.E83K|TSPAN2_ENST00000369514.2_Missense_Mutation_p.E83K	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	83					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CATTGCGACTCCCGCATGGCT	0.632																																						uc001eft.2		NA																	0					0						c.(247-249)GAG>AAG		tetraspan 2							59.0	49.0	53.0					1																	115604779		2203	4296	6499	SO:0001583	missense	10100					integral to membrane		g.chr1:115604779C>T	AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"""Tetraspanins"""	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.247G>A	1.37:g.115604779C>T	ENSP00000358529:p.Glu83Lys						p.E83K	NM_005725	NP_005716	O60636	TSN2_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	309	-	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)	83			Cytoplasmic (Potential).		D6PTH4|Q5TET2|Q8WU05	Missense_Mutation	SNP	ENST00000369516.2	37	c.247G>A	CCDS881.1	.	.	.	.	.	.	.	.	.	.	C	36	5.636570	0.96693	.	.	ENSG00000134198	ENST00000369516;ENST00000369515;ENST00000433172;ENST00000369514	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.56	5.56	0.83823	Tetraspanin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89921	0.6855	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91001	0.4842	10	0.87932	D	0	.	18.2921	0.90134	0.0:1.0:0.0:0.0	.	83	O60636	TSN2_HUMAN	K	83;83;77;83	ENSP00000358529:E83K;ENSP00000358528:E83K;ENSP00000415256:E77K;ENSP00000358527:E83K	ENSP00000358527:E83K	E	-	1	0	TSPAN2	115406302	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.961000	0.76042	2.619000	0.88677	0.462000	0.41574	GAG		0.632	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032828.1	NM_005725		6	15	0	0	0	0	6	15				
FLG	2312	broad.mit.edu	37	1	152284699	152284699	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:152284699C>A	ENST00000368799.1	-	3	2698	c.2663G>T	c.(2662-2664)gGa>gTa	p.G888V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	888	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G888E(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTCTGGATCCTGACTGCCC	0.562									Ichthyosis																													uc001ezu.1		NA																	1	Substitution - Missense(1)		skin(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(2662-2664)GGA>GTA		filaggrin							363.0	356.0	358.0					1																	152284699		2203	4298	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284699C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2663G>T	1.37:g.152284699C>A	ENSP00000357789:p.Gly888Val					uc001ezv.2_5'Flank	p.G888V	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2699	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		888			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2663G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	2.426	-0.331918	0.05314	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	2.61	0.559	0.17272	.	.	.	.	.	T	0.01835	0.0058	M	0.81682	2.555	0.09310	N	1	D	0.69078	0.997	P	0.52386	0.697	T	0.38457	-0.9660	9	0.66056	D	0.02	.	3.738	0.08518	0.0:0.5861:0.2557:0.1582	.	888	P20930	FILA_HUMAN	V	888	ENSP00000357789:G888V	ENSP00000357789:G888V	G	-	2	0	FLG	150551323	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.040000	0.12104	-0.075000	0.12798	-0.510000	0.04470	GGA		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		38	748	1	0	1.52e-26	1.83e-26	38	748				
PTPRC	5788	broad.mit.edu	37	1	198701643	198701643	+	Silent	SNP	C	C	T	rs200818686	byFrequency	TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:198701643C>T	ENST00000367376.2	+	20	2265	c.2094C>T	c.(2092-2094)aaC>aaT	p.N698N	PTPRC_ENST00000594404.1_Silent_p.N537N|PTPRC_ENST00000352140.3_Silent_p.N650N|PTPRC_ENST00000348564.6_Silent_p.N539N|PTPRC_ENST00000442510.2_Silent_p.N700N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	698	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.N698N(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTGAGATAAACGGAGATGCAG	0.318																																						uc001gur.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(2092-2094)AAC>AAT		protein tyrosine phosphatase, receptor type, C							87.0	83.0	84.0					1																	198701643		2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198701643C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2094C>T	1.37:g.198701643C>T						PTPRC_uc001gus.1_Silent_p.N650N|PTPRC_uc001gut.1_Silent_p.N537N|PTPRC_uc009wzf.1_Silent_p.N586N|PTPRC_uc010ppg.1_Silent_p.N634N	p.N698N	NM_002838	NP_002829	P08575	PTPRC_HUMAN			20	2274	+			698			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.2094C>T																																																																																					0.318	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				16	27	0	0	0	0	16	27				
TTC13	79573	broad.mit.edu	37	1	231064751	231064751	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:231064751G>A	ENST00000366661.4	-	12	1396	c.1389C>T	c.(1387-1389)caC>caT	p.H463H	TTC13_ENST00000366662.4_Silent_p.H410H|TTC13_ENST00000414259.1_Silent_p.H410H	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	463								p.H463H(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTTTAGCCCAGTGGTCCTTAA	0.413																																						uc001huf.3		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)|skin(1)	2						c.(1387-1389)CAC>CAT		tetratricopeptide repeat domain 13 isoform a							124.0	123.0	123.0					1																	231064751		2203	4300	6503	SO:0001819	synonymous_variant	79573						binding	g.chr1:231064751G>A		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1389C>T	1.37:g.231064751G>A						TTC13_uc009xfi.2_Silent_p.H410H|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Silent_p.H410H|TTC13_uc009xfk.1_Silent_p.H353H	p.H463H	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	12	1420	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	463					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Silent	SNP	ENST00000366661.4	37	c.1389C>T	CCDS1588.1																																																																																				0.413	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		72	106	0	0	0	0	72	106				
ITIH5	80760	broad.mit.edu	37	10	7605143	7605143	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr10:7605143G>A	ENST00000256861.6	-	14	2810	c.2732C>T	c.(2731-2733)gCc>gTc	p.A911V	ITIH5_ENST00000446830.2_Missense_Mutation_p.A693V|ITIH5_ENST00000298441.6_Missense_Mutation_p.A697V|ITIH5_ENST00000397146.2_Intron	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	911					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAGTTTGGCGGCATTGTTCCT	0.522																																						uc001ijq.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(2731-2733)GCC>GTC		inter-alpha trypsin inhibitor heavy chain							194.0	155.0	168.0					10																	7605143		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7605143G>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2732C>T	10.37:g.7605143G>A	ENSP00000256861:p.Ala911Val					ITIH5_uc001ijp.2_Missense_Mutation_p.A697V	p.A911V	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			14	2811	-			911					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.2732C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.191492	0.94923	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.02280	4.56;4.36;4.38	5.79	5.79	0.91817	.	0.103793	0.64402	D	0.000002	T	0.13670	0.0331	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70227	0.929;0.968	T	0.00025	-1.2315	9	0.72032	D	0.01	-26.4128	20.0275	0.97527	0.0:0.0:1.0:0.0	.	911;697	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	V	911;697;693	ENSP00000256861:A911V;ENSP00000298441:A697V;ENSP00000387969:A693V	ENSP00000256861:A911V	A	-	2	0	ITIH5	7645149	1.000000	0.71417	0.905000	0.35620	0.802000	0.45316	9.282000	0.95840	2.737000	0.93849	0.650000	0.86243	GCC		0.522	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		4	216	0	0	0	0	4	216				
NRP1	8829	broad.mit.edu	37	10	33552574	33552574	+	Splice_Site	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr10:33552574C>T	ENST00000265371.4	-	5	1183	c.658G>A	c.(658-660)Gtt>Att	p.V220I	NRP1_ENST00000374821.5_Splice_Site_p.V220I|NRP1_ENST00000374867.2_Splice_Site_p.V220I|NRP1_ENST00000374816.3_Splice_Site_p.V220I|NRP1_ENST00000374822.4_Splice_Site_p.V220I|NRP1_ENST00000374823.5_Splice_Site_p.V220I|NRP1_ENST00000432372.2_Splice_Site_p.V220I|NRP1_ENST00000395995.1_Splice_Site_p.V220I|NRP1_ENST00000374875.1_Splice_Site_p.V39I			O14786	NRP1_HUMAN	neuropilin 1	220	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TCATTCTTACCATCAGGGAAT	0.463																																					Melanoma(104;886 1489 44640 45944 51153)	uc001iwx.3		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(658-660)GTT>ATT		neuropilin 1 isoform a	Palifermin(DB00039)|Pegaptanib(DB04895)						35.0	35.0	35.0					10																	33552574		2203	4300	6503	SO:0001630	splice_region_variant	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33552574C>T	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.658+1G>A	10.37:g.33552574C>T						NRP1_uc001iwv.3_Missense_Mutation_p.V220I|NRP1_uc009xlz.2_Missense_Mutation_p.V220I|NRP1_uc001iww.3_Missense_Mutation_p.V39I|NRP1_uc001iwy.3_Missense_Mutation_p.V220I|NRP1_uc001iwz.2_Missense_Mutation_p.V220I|NRP1_uc001ixa.2_Missense_Mutation_p.V220I|NRP1_uc001ixb.1_Missense_Mutation_p.V220I|NRP1_uc001ixc.1_Missense_Mutation_p.V220I	p.V220I	NM_003873	NP_003864	O14786	NRP1_HUMAN			4	1181	-			220			Extracellular (Potential).|CUB 2.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.658G>A	CCDS7177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.530123|4.530123	0.85706|0.85706	.|.	.|.	ENSG00000099250|ENSG00000099250	ENST00000455749|ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000374818	.|T;T;T;T;T;T;T;T	.|0.18174	.|2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23	5.76|5.76	5.76|5.76	0.90799|0.90799	.|CUB (5);	.|0.053915	.|0.64402	.|D	.|0.000001	T|T	0.37839|0.37839	0.1018|0.1018	L|L	0.46819|0.46819	1.47|1.47	0.80722|0.80722	D|D	1|1	.|D;P;P;B;P;P;D;D;D	.|0.56746	.|0.977;0.941;0.896;0.26;0.755;0.91;0.977;0.977;0.973	.|D;D;D;P;P;D;D;D;D	.|0.78314	.|0.991;0.985;0.985;0.652;0.455;0.958;0.991;0.991;0.966	T|T	0.00754|0.00754	-1.1580|-1.1580	5|9	.|.	.|.	.|.	-21.966|-21.966	19.9664|19.9664	0.97271|0.97271	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|220;220;220;220;220;220;220;39;220	.|A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.|.;.;.;.;.;.;NRP1_HUMAN;.;.	Y|I	20|220;39;220;220;220;220;220;220;39	.|ENSP00000265371:V220I;ENSP00000364009:V39I;ENSP00000364001:V220I;ENSP00000379317:V220I;ENSP00000363955:V220I;ENSP00000363954:V220I;ENSP00000363956:V220I;ENSP00000363949:V220I	.|.	C|V	-|-	2|1	0|0	NRP1|NRP1	33592580|33592580	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.755000|0.755000	0.42902|0.42902	5.927000|5.927000	0.70080|0.70080	2.718000|2.718000	0.92993|0.92993	0.655000|0.655000	0.94253|0.94253	TGT|GTT		0.463	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2		Missense_Mutation	9	44	0	0	0	0	9	44				
MCU	90550	broad.mit.edu	37	10	74645514	74645514	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr10:74645514C>T	ENST00000373053.3	+	8	1011	c.990C>T	c.(988-990)gaC>gaT	p.D330D	MCU_ENST00000536019.1_Silent_p.D281D|MCU_ENST00000357157.6_Silent_p.D309D|MCU_ENST00000605416.1_3'UTR	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	330					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CAGAAATGGACCTTAAGAGAC	0.393																																						uc001jtc.2		NA																	0					0						c.(988-990)GAC>GAT		coiled-coil domain containing 109A							102.0	101.0	101.0					10																	74645514		2203	4300	6503	SO:0001819	synonymous_variant	90550				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	g.chr10:74645514C>T	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"""coiled-coil domain containing 109A"""	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.990C>T	10.37:g.74645514C>T						CCDC109A_uc009xqr.2_Silent_p.D309D|CCDC109A_uc001jtd.2_Silent_p.D281D	p.D330D	NM_138357	NP_612366	Q8NE86	MCU_HUMAN			8	1011	+	Prostate(51;0.0198)		330			Potential.|Mitochondrial matrix (Potential).		B2RDF3|B3KXV7|Q96FL3	Silent	SNP	ENST00000373053.3	37	c.990C>T	CCDS7317.1																																																																																				0.393	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357		20	88	0	0	0	0	20	88				
NEURL1	9148	broad.mit.edu	37	10	105330708	105330708	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr10:105330708C>T	ENST00000369780.4	+	2	574	c.165C>T	c.(163-165)agC>agT	p.S55S	NEURL_ENST00000369777.2_Silent_p.S38S	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		55					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S55S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TGCTGCCCAGCGGGGGGCTCC	0.652																																						uc001kxh.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)		0						c.(163-165)AGC>AGT		neuralized-like							77.0	89.0	85.0					10																	105330708		2203	4300	6503	SO:0001819	synonymous_variant	9148				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105330708C>T																												ENST00000369780.4:c.165C>T	10.37:g.105330708C>T							p.S55S	NM_004210	NP_004201	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	2	575	+			55					Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	ENST00000369780.4	37	c.165C>T	CCDS7551.1																																																																																				0.652	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			68	107	0	0	0	0	68	107				
MCMBP	79892	broad.mit.edu	37	10	121586186	121586186	+	IGR	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr10:121586186C>G	ENST00000360003.3	-	0	4113				INPP5F_ENST00000369080.3_Missense_Mutation_p.Q155E|INPP5F_ENST00000361976.2_Missense_Mutation_p.Q765E	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TATCAGGTCTCAAAACCAAGG	0.363																																						uc001leo.2		NA																	0				ovary(2)	2						c.(2293-2295)CAA>GAA		inositol polyphosphate-5-phosphatase F							89.0	95.0	93.0					10																	121586186		2203	4300	6503	SO:0001628	intergenic_variant	22876						phosphoric ester hydrolase activity	g.chr10:121586186C>G	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121586186C>G						INPP5F_uc001lep.2_Missense_Mutation_p.Q155E	p.Q765E	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	20	2459	+		Lung NSC(174;0.109)|all_lung(145;0.142)	765					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.2293C>G	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.203928	0.38905	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.49139	1.08;0.79	5.48	5.48	0.80851	.	0.193065	0.38548	N	0.001656	T	0.33323	0.0859	L	0.27053	0.805	0.80722	D	1	P;B	0.41080	0.737;0.146	B;B	0.34418	0.182;0.057	T	0.16837	-1.0389	10	0.41790	T	0.15	-21.0469	14.2247	0.65850	0.1492:0.8507:0.0:0.0	.	155;765	Q5W135;Q9Y2H2	.;SAC2_HUMAN	E	765;155	ENSP00000354519:Q765E;ENSP00000358076:Q155E	ENSP00000354519:Q765E	Q	+	1	0	INPP5F	121576176	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.842000	0.69417	2.574000	0.86865	0.467000	0.42956	CAA		0.363	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		18	254	0	0	0	0	18	254				
JAKMIP3	282973	broad.mit.edu	37	10	133948575	133948575	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr10:133948575C>T	ENST00000298622.4	+	4	1018	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	294						Golgi apparatus (GO:0005794)		p.R294C(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGATGCCCGGCGCTTCCAGCT	0.502																																						uc001lkx.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	breast(1)	1						c.(880-882)CGC>TGC		Janus kinase and microtubule interacting protein							66.0	67.0	67.0					10																	133948575		1866	4092	5958	SO:0001583	missense	282973							g.chr10:133948575C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.880C>T	10.37:g.133948575C>T	ENSP00000298622:p.Arg294Cys						p.R294C	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	4	880	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	c.880C>T	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773541	0.69992	.	.	ENSG00000188385	ENST00000298622	T	0.35421	1.31	4.21	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.56906	0.2017	M	0.72353	2.195	0.53688	D	0.999978	D	0.89917	1.0	D	0.87578	0.998	T	0.60637	-0.7224	10	0.72032	D	0.01	-11.5014	12.2398	0.54536	0.0:0.8284:0.1716:0.0	.	294	Q5VZ66	JKIP3_HUMAN	C	294	ENSP00000298622:R294C	ENSP00000298622:R294C	R	+	1	0	JAKMIP3	133798565	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.559000	0.53756	0.959000	0.37980	0.655000	0.94253	CGC		0.502	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		23	38	0	0	0	0	23	38				
AMPD3	272	broad.mit.edu	37	11	10516545	10516545	+	Missense_Mutation	SNP	C	C	G	rs370697339		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:10516545C>G	ENST00000396554.3	+	8	1602	c.1261C>G	c.(1261-1263)Ctg>Gtg	p.L421V	AMPD3_ENST00000444303.2_Missense_Mutation_p.L253V	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	412					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGAAAACTATCTGGGAGGAGA	0.537																																						uc001mio.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(1234-1236)CTG>GTG		adenosine monophosphate deaminase 3 isoform 1B		C	VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU	1,4401	2.1+/-5.4	0,1,2200	174.0	177.0	176.0		1261,1234,1255,1234,757	0.4	1.0	11		176	0,8588		0,0,4294	no	missense,missense,missense,missense,missense	AMPD3	NM_000480.2,NM_001025389.1,NM_001025390.1,NM_001172430.1,NM_001172431.1	32,32,32,32,32	0,1,6494	GG,GC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	421/777,412/768,419/775,412/768,253/609	10516545	1,12989	2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10516545C>G	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1261C>G	11.37:g.10516545C>G	ENSP00000379802:p.Leu421Val					AMPD3_uc010rbz.1_Missense_Mutation_p.L253V|AMPD3_uc001min.1_Missense_Mutation_p.L421V|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.L419V|AMPD3_uc009yfy.2_Missense_Mutation_p.L412V	p.L412V	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	8	1569	+			412					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.1234C>G	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312923	0.23908	2.27E-4	0.0	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	4.99	0.396	0.16309	Adenosine/AMP deaminase (1);	0.212731	0.36200	N	0.002732	T	0.61515	0.2353	N	0.05554	-0.025	0.35607	D	0.808319	B;B;B	0.15473	0.005;0.013;0.005	B;B;B	0.21360	0.034;0.013;0.034	T	0.50524	-0.8818	10	0.34782	T	0.22	-11.0942	5.4567	0.16594	0.2033:0.4739:0.0:0.3228	.	419;412;421	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	V	253;421;412;419;412	ENSP00000396000:L253V;ENSP00000379802:L421V;ENSP00000379801:L412V;ENSP00000436987:L419V;ENSP00000431648:L412V	ENSP00000379801:L412V	L	+	1	2	AMPD3	10473121	0.711000	0.27906	0.997000	0.53966	0.960000	0.62799	0.309000	0.19332	0.166000	0.19597	-0.339000	0.08088	CTG		0.537	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		5	243	0	0	0	0	5	243				
CAT	847	broad.mit.edu	37	11	34470887	34470887	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:34470887G>C	ENST00000241052.4	+	2	304	c.215G>C	c.(214-216)aGa>aCa	p.R72T		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	72					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ATTCCTGAGAGAGTTGTGCAT	0.438																																						uc001mvm.2		NA																	0				ovary(2)|pancreas(1)	3						c.(214-216)AGA>ACA		catalase	Fomepizole(DB01213)						131.0	128.0	129.0					11																	34470887		2202	4298	6500	SO:0001583	missense	847				hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34470887G>C	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.215G>C	11.37:g.34470887G>C	ENSP00000241052:p.Arg72Thr					CAT_uc009ykc.1_RNA	p.R72T	NM_001752	NP_001743	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	2	298	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	72					A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	37	c.215G>C	CCDS7891.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686315	0.68157	.	.	ENSG00000121691	ENST00000241052	D	0.98296	-4.85	5.84	5.84	0.93424	Catalase domain (1);Catalase, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	H	0.99911	4.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97318	0.9942	10	0.87932	D	0	-23.4634	20.139	0.98050	0.0:0.0:1.0:0.0	.	72	P04040	CATA_HUMAN	T	72	ENSP00000241052:R72T	ENSP00000241052:R72T	R	+	2	0	CAT	34427463	1.000000	0.71417	0.997000	0.53966	0.014000	0.08584	9.869000	0.99810	2.764000	0.94973	0.655000	0.94253	AGA		0.438	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		13	162	0	0	0	0	13	162				
RAG1	5896	broad.mit.edu	37	11	36596040	36596040	+	Missense_Mutation	SNP	C	C	T	rs104894289		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:36596040C>T	ENST00000299440.5	+	2	1298	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	396			R -> C (in OS; dbSNP:rs104894289). {ECO:0000269|PubMed:10606976, ECO:0000269|PubMed:9630231}.|R -> H (in OS; dbSNP:rs104894291). {ECO:0000269|PubMed:19912631, ECO:0000269|PubMed:9630231}.|R -> L (in OS; dbSNP:rs104894291). {ECO:0000269|PubMed:11133745}.		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGGCCGGCCCCGCCAACATCT	0.483									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	0				ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	GRCh37	CM981692	RAG1	M	rs104894289	c.(1186-1188)CGC>TGC		recombination activating gene 1							40.0	47.0	45.0					11																	36596040		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596040C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1186C>T	11.37:g.36596040C>T	ENSP00000299440:p.Arg396Cys					RAG1_uc001mwt.2_RNA	p.R396C	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	1310	+	all_lung(20;0.226)	all_hematologic(20;0.107)	396		R -> C (in OS).|R -> L (in OS).|R -> H (in OS).	NBD.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.1186C>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075138	0.55646	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.73789	-0.78;-0.78	5.64	5.64	0.86602	RAG nonamer-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.85750	0.5769	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.87100	0.2178	10	0.87932	D	0	.	12.805	0.57607	0.2723:0.7277:0.0:0.0	.	396	P15918	RAG1_HUMAN	C	396	ENSP00000434610:R396C;ENSP00000299440:R396C	ENSP00000299440:R396C	R	+	1	0	RAG1	36552616	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.638000	0.61353	2.684000	0.91462	0.650000	0.86243	CGC		0.483	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		32	74	0	0	0	0	32	74				
ANO1	55107	broad.mit.edu	37	11	70007338	70007338	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:70007338G>T	ENST00000355303.5	+	17	1955	c.1650G>T	c.(1648-1650)atG>atT	p.M550I	ANO1_ENST00000538023.1_Missense_Mutation_p.M550I|ANO1_ENST00000530676.1_Missense_Mutation_p.M404I|ANO1_ENST00000398543.2_Missense_Mutation_p.M404I|ANO1_ENST00000316296.5_Missense_Mutation_p.M492I|ANO1_ENST00000531349.1_Missense_Mutation_p.M259I	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	550					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CCTTGGCCATGAACTCCTCCC	0.582																																						uc001opj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1648-1650)ATG>ATT		anoctamin 1, calcium activated chloride channel							79.0	84.0	82.0					11																	70007338		2155	4234	6389	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70007338G>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1650G>T	11.37:g.70007338G>T	ENSP00000347454:p.Met550Ile					ANO1_uc001opk.1_Missense_Mutation_p.M492I|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.M259I	p.M550I	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			17	1955	+			550			Extracellular (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.1650G>T	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378352	0.42207	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349;ENST00000531300	T;T;T;T;T;T;D	0.86030	0.02;0.02;0.02;0.02;0.02;0.02;-2.06	5.29	4.35	0.52113	.	0.156809	0.56097	D	0.000023	T	0.71634	0.3363	N	0.11789	0.175	0.41324	D	0.987193	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.15052	0.005;0.004;0.012	T	0.66188	-0.5986	9	.	.	.	.	14.0575	0.64779	0.0:0.2503:0.7497:0.0	.	259;492;550	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	I	550;550;404;308;492;404;259;101	ENSP00000347454:M550I;ENSP00000444689:M550I;ENSP00000381551:M404I;ENSP00000319477:M492I;ENSP00000435797:M404I;ENSP00000432843:M259I;ENSP00000435868:M101I	.	M	+	3	0	ANO1	69684986	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.835000	0.55805	2.460000	0.83146	0.655000	0.94253	ATG		0.582	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		22	44	1	0	8.1e-08	9.22e-08	22	44				
EED	8726	broad.mit.edu	37	11	85977185	85977185	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:85977185T>C	ENST00000263360.6	+	8	1473	c.787T>C	c.(787-789)Tgg>Cgg	p.W263R	EED_ENST00000351625.6_Missense_Mutation_p.W263R|EED_ENST00000528180.1_Intron|EED_ENST00000327320.4_Missense_Mutation_p.W263R	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	263	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TCTTAAACTTTGGAGGATCAA	0.294																																						uc001pbp.2		NA																	0				skin(1)|pancreas(1)	2						c.(787-789)TGG>CGG		embryonic ectoderm development isoform a							89.0	99.0	96.0					11																	85977185		2202	4286	6488	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85977185T>C	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.787T>C	11.37:g.85977185T>C	ENSP00000263360:p.Trp263Arg					EED_uc010rtm.1_Missense_Mutation_p.W263R|EED_uc001pbq.2_Missense_Mutation_p.W263R|EED_uc001pbr.2_Missense_Mutation_p.W263R|EED_uc001pbs.2_Intron|EED_uc010rtn.1_RNA	p.W263R	NM_003797	NP_003788	O75530	EED_HUMAN			8	1244	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	263			Interaction with EZH2 (By similarity).|WD 4.|Required for interaction with the matrix protein MA of HIV-1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.787T>C	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.434025	0.83776	.	.	ENSG00000074266	ENST00000263360;ENST00000351625;ENST00000327320;ENST00000533228;ENST00000534564	T;T;D	0.83506	1.07;1.07;-1.73	5.36	5.36	0.76844	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93726	0.7995	H	0.95780	3.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95502	0.8578	9	.	.	.	-7.3146	15.658	0.77158	0.0:0.0:0.0:1.0	.	263;263;263	O75530-3;O75530-2;O75530	.;.;EED_HUMAN	R	263;263;263;56;12	ENSP00000263360:W263R;ENSP00000338186:W263R;ENSP00000315587:W263R	.	W	+	1	0	EED	85654833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.851000	0.86920	2.158000	0.67659	0.460000	0.39030	TGG		0.294	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		5	76	0	0	0	0	5	76				
KMT2A	4297	broad.mit.edu	37	11	118375411	118375411	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:118375411C>G	ENST00000389506.5	+	27	8795	c.8795C>G	c.(8794-8796)tCt>tGt	p.S2932C	KMT2A_ENST00000354520.4_Missense_Mutation_p.S2894C|KMT2A_ENST00000534358.1_Missense_Mutation_p.S2935C			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2932					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCTGATCTGTCTGTCTTGACC	0.498																																						uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(8794-8796)TCT>TGT		myeloid/lymphoid or mixed-lineage leukemia							114.0	107.0	109.0					11																	118375411		2200	4295	6495	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118375411C>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8795C>G	11.37:g.118375411C>G	ENSP00000374157:p.Ser2932Cys					MLL_uc001ptb.2_Missense_Mutation_p.S2935C	p.S2932C	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	8818	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	2932					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.8795C>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143226	0.37825	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.88046	-2.33;-2.33;-2.28	6.17	5.26	0.73747	.	0.176714	0.52532	D	0.000078	D	0.89996	0.6877	L	0.48642	1.525	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.60173	0.87;0.87	D	0.91079	0.4898	10	0.87932	D	0	.	15.327	0.74172	0.0:0.9337:0.0:0.0663	.	2935;2932	E9PQG7;Q03164	.;MLL1_HUMAN	C	2935;2932;2894;1842	ENSP00000436786:S2935C;ENSP00000374157:S2932C;ENSP00000346516:S2894C	ENSP00000346516:S2894C	S	+	2	0	MLL	117880621	1.000000	0.71417	0.913000	0.36048	0.985000	0.73830	7.487000	0.81328	1.620000	0.50308	0.655000	0.94253	TCT		0.498	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		3	108	0	0	0	0	3	108				
KMT2A	4297	broad.mit.edu	37	11	118376025	118376025	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:118376025C>G	ENST00000389506.5	+	27	9409	c.9409C>G	c.(9409-9411)Cca>Gca	p.P3137A	KMT2A_ENST00000354520.4_Missense_Mutation_p.P3099A|KMT2A_ENST00000534358.1_Missense_Mutation_p.P3140A			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3137					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGGACTAAATCCAAGCTTGCC	0.468																																						uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(9409-9411)CCA>GCA		myeloid/lymphoid or mixed-lineage leukemia							191.0	171.0	178.0					11																	118376025		2200	4295	6495	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118376025C>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9409C>G	11.37:g.118376025C>G	ENSP00000374157:p.Pro3137Ala					MLL_uc001ptb.2_Missense_Mutation_p.P3140A	p.P3137A	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	9432	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3137					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.9409C>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387645	0.25031	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82081	-1.56;-1.57;-1.53	5.55	4.62	0.57501	.	0.197122	0.44483	N	0.000446	T	0.71904	0.3395	N	0.24115	0.695	0.44771	D	0.997775	B;B	0.12630	0.006;0.006	B;B	0.09377	0.004;0.004	T	0.65973	-0.6038	10	0.12103	T	0.63	.	16.35	0.83199	0.0:0.868:0.132:0.0	.	3140;3137	E9PQG7;Q03164	.;MLL1_HUMAN	A	3140;3137;3099;2047	ENSP00000436786:P3140A;ENSP00000374157:P3137A;ENSP00000346516:P3099A	ENSP00000346516:P3099A	P	+	1	0	MLL	117881235	1.000000	0.71417	0.967000	0.41034	0.975000	0.68041	3.616000	0.54174	1.525000	0.49052	0.591000	0.81541	CCA		0.468	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		7	168	0	0	0	0	7	168				
KMT2A	4297	broad.mit.edu	37	11	118376147	118376147	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:118376147C>T	ENST00000389506.5	+	27	9531	c.9531C>T	c.(9529-9531)atC>atT	p.I3177I	KMT2A_ENST00000354520.4_Silent_p.I3139I|KMT2A_ENST00000534358.1_Silent_p.I3180I			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3177					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CACCAAACATCAGCAATCCTC	0.502																																						uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(9529-9531)ATC>ATT		myeloid/lymphoid or mixed-lineage leukemia							161.0	158.0	159.0					11																	118376147		2200	4295	6495	SO:0001819	synonymous_variant	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118376147C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9531C>T	11.37:g.118376147C>T						MLL_uc001ptb.2_Silent_p.I3180I	p.I3177I	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	9554	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3177					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.9531C>T	CCDS31686.1																																																																																				0.502	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		4	128	0	0	0	0	4	128				
COPS7A	50813	broad.mit.edu	37	12	6833912	6833912	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:6833912C>T	ENST00000543155.1	+	2	572	c.90C>T	c.(88-90)ctC>ctT	p.L30L	COPS7A_ENST00000534877.1_Silent_p.L30L|COPS7A_ENST00000539735.1_Silent_p.L30L|COPS7A_ENST00000534947.1_Silent_p.L30L|RP4-761J14.9_ENST00000602759.1_RNA|COPS7A_ENST00000538410.1_Silent_p.L30L|COPS7A_ENST00000542150.1_Intron|COPS7A_ENST00000229251.3_Silent_p.L30L	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	30					cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						TGGCCACACTCATCCATCAGG	0.572																																						uc001qqj.2		NA																	0				ovary(1)	1						c.(88-90)CTC>CTT		COP9 complex subunit 7a							112.0	108.0	109.0					12																	6833912		2203	4300	6503	SO:0001819	synonymous_variant	50813				cullin deneddylation	cytoplasm|signalosome		g.chr12:6833912C>T	AF193844	CCDS8558.1	12p13.31	2013-03-14	2013-03-14		ENSG00000111652	ENSG00000111652			16758	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7A"", ""COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis)"""				Standard	NM_001164093		Approved	CSN7A	uc001qqh.3	Q9UBW8	OTTHUMG00000169182	ENST00000543155.1:c.90C>T	12.37:g.6833912C>T						COPS7A_uc009zex.2_RNA|COPS7A_uc001qqk.2_Silent_p.L30L|COPS7A_uc001qql.2_RNA|COPS7A_uc001qqh.2_Silent_p.L30L|COPS7A_uc001qqi.2_Silent_p.L30L|COPS7A_uc001qqm.2_RNA|COPS7A_uc001qqn.3_Silent_p.L30L|COPS7A_uc001qqo.2_Silent_p.L30L	p.L30L	NM_001164094	NP_001157566	Q9UBW8	CSN7A_HUMAN			2	329	+			30					A8K9A6|Q9NVX3|Q9UJW4	Silent	SNP	ENST00000543155.1	37	c.90C>T	CCDS8558.1																																																																																				0.572	COPS7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402740.1			6	99	0	0	0	0	6	99				
KIAA1467	57613	broad.mit.edu	37	12	13224219	13224219	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:13224219C>T	ENST00000197268.8	+	10	1533	c.1413C>T	c.(1411-1413)taC>taT	p.Y471Y		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	471						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TTTGGAGTTACCGTGCTCCGT	0.512																																						uc001rbi.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(1411-1413)TAC>TAT		hypothetical protein LOC57613							153.0	145.0	148.0					12																	13224219		2203	4300	6503	SO:0001819	synonymous_variant	57613					integral to membrane		g.chr12:13224219C>T	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1413C>T	12.37:g.13224219C>T						KIAA1467_uc009zhx.1_RNA	p.Y471Y	NM_020853	NP_065904	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	10	1436	+		Prostate(47;0.184)	471					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Silent	SNP	ENST00000197268.8	37	c.1413C>T	CCDS31750.1																																																																																				0.512	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		6	132	0	0	0	0	6	132				
SYT10	341359	broad.mit.edu	37	12	33560277	33560277	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:33560277C>T	ENST00000228567.3	-	3	820	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	RP11-438D14.2_ENST00000561632.1_lincRNA|SYT10_ENST00000535526.1_5'UTR|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	175					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CAGGTGTCTTCGGAAGGAACT	0.438																																						uc001rll.1		NA																	0				ovary(1)|skin(1)	2						c.(523-525)CGA>CAA		synaptotagmin X							110.0	102.0	105.0					12																	33560277		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33560277C>T	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.524G>A	12.37:g.33560277C>T	ENSP00000228567:p.Arg175Gln					SYT10_uc009zju.1_5'UTR	p.R175Q	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			3	821	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		175			Cytoplasmic (Potential).		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.524G>A	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358418	0.41801	.	.	ENSG00000110975	ENST00000228567	T	0.47528	0.84	4.66	2.83	0.33086	.	0.000000	0.45361	U	0.000374	T	0.42765	0.1217	M	0.69823	2.125	0.80722	D	1	B	0.23058	0.079	B	0.17433	0.018	T	0.28004	-1.0057	10	0.33940	T	0.23	.	8.1988	0.31413	0.0:0.7491:0.0:0.2509	.	175	Q6XYQ8	SYT10_HUMAN	Q	175	ENSP00000228567:R175Q	ENSP00000228567:R175Q	R	-	2	0	SYT10	33451544	1.000000	0.71417	0.995000	0.50966	0.919000	0.55068	3.094000	0.50227	0.661000	0.30985	0.563000	0.77884	CGA		0.438	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		5	166	0	0	0	0	5	166				
ALG10	84920	broad.mit.edu	37	12	34179707	34179707	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:34179707C>G	ENST00000266483.2	+	3	1598	c.1279C>G	c.(1279-1281)Ctt>Gtt	p.L427V	RP11-847H18.2_ENST00000501954.2_RNA|AC046130.1_ENST00000401300.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	427					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CATTTATAGGCTTAACATACC	0.338																																						uc001rlm.2		NA																	0				skin(1)	1						c.(1279-1281)CTT>GTT		asparagine-linked glycosylation 10 homolog							193.0	197.0	196.0					12																	34179707		2203	4300	6503	SO:0001583	missense	84920				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:34179707C>G	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.1279C>G	12.37:g.34179707C>G	ENSP00000266483:p.Leu427Val						p.L427V	NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN			3	1598	+	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)	427			Extracellular (Potential).		Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	c.1279C>G	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	C	9.948	1.219318	0.22373	.	.	ENSG00000139133	ENST00000266483	T	0.61980	0.06	3.37	2.42	0.29668	.	0.188264	0.47852	N	0.000218	T	0.59348	0.2187	M	0.72894	2.215	0.80722	D	1	B	0.27013	0.166	B	0.29176	0.099	T	0.57785	-0.7751	10	0.49607	T	0.09	.	10.3068	0.43685	0.0:0.7963:0.2037:0.0	.	427	Q5BKT4	AG10A_HUMAN	V	427	ENSP00000266483:L427V	ENSP00000266483:L427V	L	+	1	0	ALG10	34070974	1.000000	0.71417	0.998000	0.56505	0.609000	0.37215	4.541000	0.60670	0.496000	0.27904	0.184000	0.17185	CTT		0.338	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		116	201	0	0	0	0	116	201				
KMT2D	8085	broad.mit.edu	37	12	49443899	49443899	+	Nonsense_Mutation	SNP	C	C	A	rs199933192		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:49443899C>A	ENST00000301067.7	-	11	3471	c.3472G>T	c.(3472-3474)Gag>Tag	p.E1158*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1158	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E885*(2)|p.E1158*(1)									GCCAGCTCCTCGGGGTCCAGG	0.602																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		3	Substitution - Nonsense(3)		lung(2)|upper_aerodigestive_tract(1)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(3472-3474)GAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							45.0	49.0	47.0					12																	49443899		1917	4119	6036	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49443899C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3472G>T	12.37:g.49443899C>A	ENSP00000301067:p.Glu1158*	HNSCC(34;0.089)					p.E1158*	NM_003482	NP_003473	O14686	MLL2_HUMAN			11	3472	-			1158			Pro-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.3472G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	41	9.130661	0.99075	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.4	5.4	0.78164	.	0.000000	0.37348	N	0.002137	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9764	0.89129	0.0:1.0:0.0:0.0	.	.	.	.	X	1158	.	ENSP00000301067:E1158X	E	-	1	0	MLL2	47730166	0.990000	0.36364	0.994000	0.49952	0.966000	0.64601	2.946000	0.49050	2.527000	0.85204	0.563000	0.77884	GAG		0.602	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			47	87	1	0	2.08e-19	2.47e-19	47	87				
TROAP	10024	broad.mit.edu	37	12	49719906	49719906	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:49719906C>T	ENST00000257909.3	+	6	757	c.681C>T	c.(679-681)ttC>ttT	p.F227F	TROAP_ENST00000547923.1_5'Flank|TROAP_ENST00000551245.1_Silent_p.F227F|RP11-161H23.9_ENST00000553259.1_RNA	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	227					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GCCCCAGTTTCCAGGAGCTAA	0.527																																						uc001rtx.3		NA																	0				ovary(1)	1						c.(679-681)TTC>TTT		tastin isoform 1							109.0	111.0	110.0					12																	49719906		2203	4300	6503	SO:0001819	synonymous_variant	10024				cell adhesion	cytoplasm		g.chr12:49719906C>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.681C>T	12.37:g.49719906C>T						TROAP_uc009zlh.2_Silent_p.F227F|TROAP_uc001rty.2_5'Flank	p.F227F	NM_005480	NP_005471	Q12815	TROAP_HUMAN			6	848	+			227					F8VSF9|Q6PJU7|Q8N5B2	Silent	SNP	ENST00000257909.3	37	c.681C>T	CCDS8784.1																																																																																				0.527	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		8	243	0	0	0	0	8	243				
PAN2	9924	broad.mit.edu	37	12	56717884	56717884	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:56717884C>T	ENST00000425394.2	-	13	2390	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	PAN2_ENST00000257931.5_Missense_Mutation_p.E671K|PAN2_ENST00000548043.1_Missense_Mutation_p.E672K|PAN2_ENST00000440411.3_Missense_Mutation_p.E672K	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CGCACGGTCTCACTGCCACAG	0.542																																						uc001skx.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(2014-2016)GAG>AAG		PAN2 polyA specific ribonuclease subunit homolog							78.0	79.0	79.0					12																	56717884		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56717884C>T	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2014G>A	12.37:g.56717884C>T	ENSP00000401721:p.Glu672Lys					PAN2_uc001skw.2_5'UTR|PAN2_uc001skz.2_Missense_Mutation_p.E671K|PAN2_uc001sky.2_Missense_Mutation_p.E672K	p.E672K	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			13	2387	-			672						Missense_Mutation	SNP	ENST00000425394.2	37	c.2014G>A	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565234	0.86439	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.05855	3.38;3.38;3.38;3.38	5.41	5.41	0.78517	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.21841	0.0526	M	0.78801	2.425	0.80722	D	1	P;P;P	0.51057	0.849;0.849;0.941	B;B;P	0.55577	0.425;0.425;0.779	T	0.00165	-1.1967	10	0.38643	T	0.18	-22.3767	18.3515	0.90339	0.0:1.0:0.0:0.0	.	671;672;672	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	K	672;672;671;672	ENSP00000401721:E672K;ENSP00000388231:E672K;ENSP00000257931:E671K;ENSP00000449861:E672K	ENSP00000257931:E671K	E	-	1	0	PAN2	55004151	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.737000	0.84957	2.719000	0.93026	0.637000	0.83480	GAG		0.542	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		5	135	0	0	0	0	5	135				
XPOT	11260	broad.mit.edu	37	12	64818958	64818958	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:64818958G>T	ENST00000332707.5	+	13	1977	c.1448G>T	c.(1447-1449)cGa>cTa	p.R483L		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	483	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GATATGATGCGAACTGTAAGT	0.358																																						uc001ssb.2		NA																	0				ovary(2)	2						c.(1447-1449)CGA>CTA		tRNA exportin							102.0	105.0	104.0					12																	64818958		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64818958G>T	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1448G>T	12.37:g.64818958G>T	ENSP00000327821:p.Arg483Leu						p.R483L	NM_007235	NP_009166	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	13	1874	+			483			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.1448G>T	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627131	0.66901	.	.	ENSG00000184575	ENST00000332707	T	0.32753	1.44	5.2	5.2	0.72013	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.24736	0.0600	L	0.27053	0.805	0.80722	D	1	B	0.19583	0.037	B	0.16722	0.016	T	0.04509	-1.0946	9	.	.	.	.	19.1158	0.93338	0.0:0.0:1.0:0.0	.	483	O43592	XPOT_HUMAN	L	483	ENSP00000327821:R483L	.	R	+	2	0	XPOT	63105225	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.623000	0.83113	2.617000	0.88574	0.655000	0.94253	CGA		0.358	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		7	215	1	0	1.77e-08	2.02e-08	7	215				
GRIP1	23426	broad.mit.edu	37	12	66742828	66742828	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:66742828C>T	ENST00000398016.3	-	24	3270	c.3202G>A	c.(3202-3204)Gag>Aag	p.E1068K	GRIP1_ENST00000286445.7_Missense_Mutation_p.E1105K|GRIP1_ENST00000359742.4_Missense_Mutation_p.E1120K	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCTCGTGTCTCCAAATTACCA	0.408																																						uc001stk.2		NA																	0				ovary(2)	2						c.(3202-3204)GAG>AAG		glutamate receptor interacting protein 1							268.0	260.0	262.0					12																	66742828		1897	4115	6012	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66742828C>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.3202G>A	12.37:g.66742828C>T	ENSP00000381098:p.Glu1068Lys					GRIP1_uc001stj.2_Missense_Mutation_p.E835K	p.E1068K	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	24	3443	-			1120					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.3202G>A	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.88|10.88	1.475474|1.475474	0.26511|0.26511	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211|ENST00000538164	T;T;T;T|.	0.22743|.	2.04;2.05;2.05;1.94|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.212892|.	0.40385|.	N|.	0.001107|.	T|.	0.59404|.	0.2191|.	L|L	0.29908|0.29908	0.895|0.895	0.50632|0.50632	D|D	0.999882|0.999882	B;P|.	0.37207|.	0.356;0.587|.	B;B|.	0.36464|.	0.164;0.225|.	T|.	0.52540|.	-0.8562|.	9|.	.|.	.|.	.|.	-28.1697|-28.1697	19.6939|19.6939	0.96016|0.96016	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1068;1105|.	Q9Y3R0-3;Q9Y3R0-2|.	.;.|.	K|X	1068;1120;1105;1053|919	ENSP00000381098:E1068K;ENSP00000352780:E1120K;ENSP00000286445:E1105K;ENSP00000446047:E1053K|.	.|.	E|W	-|-	1|3	0|0	GRIP1|GRIP1	65029095|65029095	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.030000|0.030000	0.12068|0.12068	4.625000|4.625000	0.61262|0.61262	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.408	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			29	332	0	0	0	0	29	332				
ACSS3	79611	broad.mit.edu	37	12	81532986	81532986	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:81532986C>A	ENST00000548058.1	+	4	1632	c.722C>A	c.(721-723)gCg>gAg	p.A241E	ACSS3_ENST00000261206.3_Missense_Mutation_p.A240E			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	241						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GTAGAAGAAGCGCTAAAAATA	0.353																																						uc001szl.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(721-723)GCG>GAG		acyl-CoA synthetase short-chain family member 3							130.0	116.0	121.0					12																	81532986		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81532986C>A		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.722C>A	12.37:g.81532986C>A	ENSP00000449535:p.Ala241Glu					ACSS3_uc001szm.1_Missense_Mutation_p.A240E	p.A241E	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			4	813	+			241					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.722C>A	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	32	5.173568	0.94807	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.12465	2.68;2.68	5.41	5.41	0.78517	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67749	-0.5590	10	0.87932	D	0	-23.4915	19.5526	0.95328	0.0:1.0:0.0:0.0	.	241	Q9H6R3	ACSS3_HUMAN	E	241;240	ENSP00000449535:A241E;ENSP00000261206:A240E	ENSP00000261206:A240E	A	+	2	0	ACSS3	80057117	1.000000	0.71417	0.962000	0.40283	0.967000	0.64934	7.700000	0.84556	2.701000	0.92244	0.563000	0.77884	GCG		0.353	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		48	69	1	0	2.29e-23	2.73e-23	48	69				
RASSF9	9182	broad.mit.edu	37	12	86199550	86199550	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:86199550T>C	ENST00000361228.3	-	2	606	c.238A>G	c.(238-240)Ata>Gta	p.I80V		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	80	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)	p.I80V(1)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CACTTCTCTATGATGCAGTAA	0.488																																						uc001taf.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(238-240)ATA>GTA		Ras association (RalGDS/AF-6) domain family							96.0	96.0	96.0					12																	86199550		1887	4126	6013	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199550T>C		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.238A>G	12.37:g.86199550T>C	ENSP00000354884:p.Ile80Val						p.I80V	NM_005447	NP_005438	O75901	RASF9_HUMAN			2	577	-			80			Ras-associating.		B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.238A>G	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	T	0.294	-0.978102	0.02197	.	.	ENSG00000198774	ENST00000361228	T	0.39592	1.07	4.82	2.44	0.29823	Ras-association (2);	0.463986	0.21168	N	0.079028	T	0.10035	0.0246	N	0.00750	-1.22	0.27354	N	0.956161	B	0.02656	0.0	B	0.06405	0.002	T	0.33523	-0.9865	10	0.02654	T	1	-8.0355	3.9534	0.09379	0.0:0.3345:0.2125:0.453	.	80	O75901	RASF9_HUMAN	V	80	ENSP00000354884:I80V	ENSP00000354884:I80V	I	-	1	0	RASSF9	84723681	0.978000	0.34361	1.000000	0.80357	0.988000	0.76386	0.309000	0.19332	0.297000	0.22615	0.421000	0.28195	ATA		0.488	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			71	87	0	0	0	0	71	87				
SPPL3	121665	broad.mit.edu	37	12	121206202	121206202	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:121206202C>T	ENST00000353487.2	-	8	1202	c.699G>A	c.(697-699)cgG>cgA	p.R233R		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	234						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGTGGAGCTTCCGGGATAGAA	0.542																																						uc001tzd.2		NA																	0					0						c.(697-699)CGG>CGA		signal peptide peptidase 3							139.0	133.0	135.0					12																	121206202		2203	4300	6503	SO:0001819	synonymous_variant	121665					integral to membrane	aspartic-type endopeptidase activity	g.chr12:121206202C>T		CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"""intramembrane protease 2"", ""presenilin-like protein 4"""	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.699G>A	12.37:g.121206202C>T						SPPL3_uc009zwz.2_Silent_p.R226R|SPPL3_uc001tzc.2_Silent_p.R63R	p.R233R	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN			8	1180	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		234					Q3MJ04|Q8TAU4|Q96DD9	Silent	SNP	ENST00000353487.2	37	c.699G>A	CCDS9208.1																																																																																				0.542	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402980.2	NM_139015		6	237	0	0	0	0	6	237				
HSPH1	10808	broad.mit.edu	37	13	31712628	31712628	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr13:31712628C>G	ENST00000320027.5	-	17	2630	c.2286G>C	c.(2284-2286)atG>atC	p.M762I	HSPH1_ENST00000429785.2_Missense_Mutation_p.M581I|HSPH1_ENST00000445273.2_Missense_Mutation_p.M764I|HSPH1_ENST00000380405.4_Missense_Mutation_p.M718I|HSPH1_ENST00000380406.5_Missense_Mutation_p.M721I	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	762					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TGACATTATTCATCCATTCCA	0.358																																						uc001utj.2		NA																	0					0						c.(2284-2286)ATG>ATC		heat shock 105kD							269.0	251.0	257.0					13																	31712628		2203	4300	6503	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31712628C>G	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.2286G>C	13.37:g.31712628C>G	ENSP00000318687:p.Met762Ile					HSPH1_uc001utk.2_Missense_Mutation_p.M718I|HSPH1_uc010aaw.2_Missense_Mutation_p.M721I|HSPH1_uc001utl.2_Missense_Mutation_p.M764I|HSPH1_uc010tds.1_Missense_Mutation_p.M686I	p.M762I	NM_006644	NP_006635	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	17	2684	-		Lung SC(185;0.0257)	762					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.2286G>C	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782370	0.49891	.	.	ENSG00000120694	ENST00000435381;ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000380363;ENST00000429785	T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.21509	0.0518	M	0.77313	2.365	0.58432	D	0.999994	B;B;B;B;B	0.16396	0.017;0.003;0.004;0.007;0.004	B;B;B;B;B	0.15484	0.013;0.007;0.013;0.011;0.008	T	0.00995	-1.1487	10	0.54805	T	0.06	-31.3031	14.7773	0.69740	0.0:0.9316:0.0:0.0684	.	581;721;764;718;762	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	I	26;762;718;721;764;48;581	ENSP00000408991:M26I;ENSP00000318687:M762I;ENSP00000369768:M718I;ENSP00000369769:M721I;ENSP00000396090:M764I;ENSP00000388778:M581I	ENSP00000318687:M762I	M	-	3	0	HSPH1	30610628	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	5.774000	0.68906	2.894000	0.99253	0.591000	0.81541	ATG		0.358	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			6	234	0	0	0	0	6	234				
NBEA	26960	broad.mit.edu	37	13	36241642	36241642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr13:36241642C>T	ENST00000400445.3	+	56	9067	c.8533C>T	c.(8533-8535)Cga>Tga	p.R2845*	NBEA_ENST00000540320.1_Nonsense_Mutation_p.R2845*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.R2842*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.R638*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.R2845*|NBEA_ENST00000379922.3_Nonsense_Mutation_p.R423*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2845					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.R2845*(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGAACGAGGGCGATTCAGTAA	0.428																																						uc001uvb.2		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	ovary(9)|large_intestine(2)	11						c.(8533-8535)CGA>TGA		neurobeachin							180.0	176.0	177.0					13																	36241642		1889	4123	6012	SO:0001587	stop_gained	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36241642C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8533C>T	13.37:g.36241642C>T	ENSP00000383295:p.Arg2845*					NBEA_uc010abi.2_Nonsense_Mutation_p.R1503*|NBEA_uc010tef.1_Nonsense_Mutation_p.R638*|NBEA_uc001uvd.2_Nonsense_Mutation_p.R423*	p.R2845*	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	56	8739	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2845					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	ENST00000400445.3	37	c.8533C>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	42	9.430291	0.99169	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	.	.	.	5.73	5.73	0.89815	.	0.139473	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	13.3704	0.60709	0.2752:0.7248:0.0:0.0	.	.	.	.	X	2845;2845;2842;2845;1474;423;638;423	.	ENSP00000308534:R2845X	R	+	1	2	NBEA	35139642	0.987000	0.35691	0.995000	0.50966	0.989000	0.77384	2.755000	0.47540	2.700000	0.92200	0.655000	0.94253	CGA		0.428	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		28	185	0	0	0	0	28	185				
SPG20	23111	broad.mit.edu	37	13	36909222	36909222	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr13:36909222C>T	ENST00000451493.1	-	2	963	c.746G>A	c.(745-747)cGa>cAa	p.R249Q	SPG20_ENST00000355182.4_Missense_Mutation_p.R249Q|SPG20_ENST00000494062.2_Missense_Mutation_p.R249Q|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Missense_Mutation_p.R249Q	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	249					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CCTCACAATTCGAAGGTACCC	0.398																																						uc001uvn.2		NA																	0					0						c.(745-747)CGA>CAA		spartin							86.0	91.0	89.0					13																	36909222		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36909222C>T	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.746G>A	13.37:g.36909222C>T	ENSP00000414147:p.Arg249Gln					SPG20_uc010ten.1_Missense_Mutation_p.R249Q|SPG20_uc001uvm.2_Missense_Mutation_p.R249Q|SPG20_uc001uvo.2_Missense_Mutation_p.R249Q|SPG20_uc001uvq.2_Missense_Mutation_p.R249Q|SPG20_uc001uvp.2_Missense_Mutation_p.R249Q	p.R249Q	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	3	1016	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	249					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.746G>A	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	C	36	5.677166	0.96764	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.89617	-2.54;-2.54;-2.54	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.93077	0.7796	L	0.51422	1.61	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.999	D	0.91461	0.5189	10	0.37606	T	0.19	-18.5207	20.1064	0.97896	0.0:1.0:0.0:0.0	.	249;249;249	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	Q	249	ENSP00000406061:R249Q;ENSP00000347314:R249Q;ENSP00000414147:R249Q	ENSP00000347314:R249Q	R	-	2	0	SPG20	35807222	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	7.123000	0.77176	2.745000	0.94114	0.650000	0.86243	CGA		0.398	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			4	164	0	0	0	0	4	164				
ELF1	1997	broad.mit.edu	37	13	41533074	41533074	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr13:41533074G>C	ENST00000239882.3	-	3	465	c.151C>G	c.(151-153)Cta>Gta	p.L51V	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.L51V	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	51					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L51V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		ACACAGGCTAGACCGGCATAA	0.453																																						uc001uxs.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(151-153)CTA>GTA		E74-like factor 1 (ets domain transcription							195.0	149.0	165.0					13																	41533074		2203	4300	6503	SO:0001583	missense	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41533074G>C	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.151C>G	13.37:g.41533074G>C	ENSP00000239882:p.Leu51Val					ELF1_uc010tfc.1_Missense_Mutation_p.L51V|ELF1_uc010acd.2_5'UTR	p.L51V	NM_172373	NP_758961	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	3	524	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	51					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	c.151C>G	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309952	0.40895	.	.	ENSG00000120690	ENST00000442101;ENST00000239882	T;T	0.60548	0.18;0.18	5.87	2.2	0.27929	.	0.000000	0.56097	D	0.000026	T	0.69269	0.3092	M	0.68593	2.085	0.28658	N	0.906275	D;D	0.76494	0.999;0.999	D;D	0.87578	0.994;0.998	T	0.61554	-0.7039	10	0.56958	D	0.05	.	8.7215	0.34443	0.3591:0.0:0.6409:0.0	.	51;51	E9PDQ9;P32519	.;ELF1_HUMAN	V	51	ENSP00000405580:L51V;ENSP00000239882:L51V	ENSP00000239882:L51V	L	-	1	2	ELF1	40431074	0.888000	0.30383	0.097000	0.21041	0.393000	0.30537	1.515000	0.35845	0.824000	0.34613	0.655000	0.94253	CTA		0.453	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		42	71	0	0	0	0	42	71				
KIAA0391	9692	broad.mit.edu	37	14	35592848	35592848	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr14:35592848G>C	ENST00000557565.1	+	2	778	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	PPP2R3C_ENST00000261475.5_5'Flank|KIAA0391_ENST00000603544.1_Missense_Mutation_p.E133Q|KIAA0391_ENST00000321130.10_Missense_Mutation_p.E133Q|KIAA0391_ENST00000250377.7_Missense_Mutation_p.E38Q|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Missense_Mutation_p.E38Q|KIAA0391_ENST00000603588.1_Intron|PPP2R3C_ENST00000555644.1_5'Flank|KIAA0391_ENST00000534898.4_Missense_Mutation_p.E133Q	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	133					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		AGATTTAAAAGAAAACACCGG	0.433																																						uc001wsy.1		NA																	0					0						c.(397-399)GAA>CAA		mitochondrial RNase P protein 3 precursor							72.0	75.0	74.0					14																	35592848		2203	4300	6503	SO:0001583	missense	9692				tRNA processing	mitochondrion		g.chr14:35592848G>C	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.397G>C	14.37:g.35592848G>C	ENSP00000454657:p.Glu133Gln					KIAA0391_uc010tps.1_Missense_Mutation_p.E38Q|KIAA0391_uc001wsz.1_Missense_Mutation_p.E133Q|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Missense_Mutation_p.E133Q|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.2_5'Flank|PPP2R3C_uc001wst.2_5'Flank|PPP2R3C_uc010tpr.1_5'Flank|PPP2R3C_uc001wsu.2_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.2_5'Flank|PPP2R3C_uc001wsx.1_5'Flank	p.E133Q	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	2	757	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		133					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Missense_Mutation	SNP	ENST00000557565.1	37	c.397G>C	CCDS32063.1	.	.	.	.	.	.	.	.	.	.	G	1.718	-0.497395	0.04291	.	.	ENSG00000100890	ENST00000554896;ENST00000250377;ENST00000321130;ENST00000534898;ENST00000556121	T;T;T	0.44482	0.94;0.92;0.92	5.25	2.92	0.33932	.	.	.	.	.	T	0.17365	0.0417	N	0.08118	0	0.09310	N	1	B;B	0.18461	0.0;0.028	B;B	0.15052	0.0;0.012	T	0.22941	-1.0202	9	0.14252	T	0.57	.	2.3043	0.04170	0.174:0.1517:0.4953:0.1789	.	133;133	O15091-2;O15091	.;MRRP3_HUMAN	Q	38;38;133;133;133	ENSP00000250377:E38Q;ENSP00000324697:E133Q;ENSP00000440915:E133Q	ENSP00000250377:E38Q	E	+	1	0	KIAA0391	34662599	0.000000	0.05858	0.943000	0.38184	0.155000	0.21991	0.150000	0.16263	2.438000	0.82558	0.563000	0.77884	GAA		0.433	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		3	102	0	0	0	0	3	102				
PYGL	5836	broad.mit.edu	37	14	51398432	51398432	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr14:51398432C>T	ENST00000216392.7	-	4	819	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	PYGL_ENST00000532462.1_Missense_Mutation_p.E163K|PYGL_ENST00000544180.2_Missense_Mutation_p.E129K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	163					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	ATCCCATATTCATACCGAATG	0.438																																						uc001wyu.2		NA																	0				skin(1)	1						c.(487-489)GAA>AAA		liver glycogen phosphorylase isoform 1	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						119.0	112.0	114.0					14																	51398432		2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51398432C>T		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.487G>A	14.37:g.51398432C>T	ENSP00000216392:p.Glu163Lys					PYGL_uc010tqq.1_Missense_Mutation_p.E129K|PYGL_uc001wyv.2_5'UTR|PYGL_uc001wyw.3_Missense_Mutation_p.E163K	p.E163K	NM_002863	NP_002854	P06737	PYGL_HUMAN			4	614	-	all_epithelial(31;0.00825)|Breast(41;0.148)		163					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.487G>A	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	35	5.472738	0.96274	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.93366	-3.09;-3.09;-3.21	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.95623	0.8577	L	0.55213	1.73	0.80722	D	1	D;D;D	0.64830	0.989;0.994;0.987	D;D;D	0.68765	0.959;0.96;0.96	D	0.95603	0.8665	10	0.72032	D	0.01	-8.3335	17.5932	0.88003	0.0:1.0:0.0:0.0	.	129;185;163	F5H816;Q6P1L4;P06737	.;.;PYGL_HUMAN	K	163;129;163	ENSP00000431657:E163K;ENSP00000443787:E129K;ENSP00000216392:E163K	ENSP00000216392:E163K	E	-	1	0	PYGL	50468182	1.000000	0.71417	0.532000	0.27989	0.879000	0.50718	7.370000	0.79589	2.826000	0.97356	0.655000	0.94253	GAA		0.438	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		4	200	0	0	0	0	4	200				
EIF2S1	1965	broad.mit.edu	37	14	67831504	67831504	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr14:67831504G>C	ENST00000256383.4	+	2	481	c.20G>C	c.(19-21)aGa>aCa	p.R7T	EIF2S1_ENST00000466499.2_Missense_Mutation_p.R7T	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	7					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		ctaagttgtagattttatcaa	0.363																																						uc001xjg.2		NA																	0				ovary(1)	1						c.(19-21)AGA>ACA		eukaryotic translation initiation factor 2,							78.0	77.0	77.0					14																	67831504		2203	4300	6503	SO:0001583	missense	1965					cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity	g.chr14:67831504G>C	J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"""eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"""	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.20G>C	14.37:g.67831504G>C	ENSP00000256383:p.Arg7Thr						p.R7T	NM_004094	NP_004085	P05198	IF2A_HUMAN		all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)	2	161	+			7						Missense_Mutation	SNP	ENST00000256383.4	37	c.20G>C	CCDS9781.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103871	0.94245	.	.	ENSG00000134001	ENST00000256383;ENST00000437108;ENST00000557310;ENST00000466499	.	.	.	5.93	5.93	0.95920	Nucleic acid-binding, OB-fold (1);	0.044808	0.85682	D	0.000000	D	0.89343	0.6688	H	0.95151	3.63	0.80722	D	1	D	0.65815	0.995	D	0.67725	0.953	D	0.91542	0.5250	9	0.87932	D	0	-15.473	20.3465	0.98790	0.0:0.0:1.0:0.0	.	7	P05198	IF2A_HUMAN	T	7	.	ENSP00000256383:R7T	R	+	2	0	EIF2S1	66901257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	AGA		0.363	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074342.3	NM_004094		3	151	0	0	0	0	3	151				
ADAM20	8748	broad.mit.edu	37	14	70989722	70989722	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr14:70989722G>A	ENST00000256389.3	-	2	2147	c.1903C>T	c.(1903-1905)Cac>Tac	p.H635Y	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	585	EGF-like.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TCATTGAGGTGAAACTGCTGC	0.443																																						uc001xme.2		NA																	0				skin(1)	1						c.(1903-1905)CAC>TAC		ADAM metallopeptidase domain 20 preproprotein							198.0	133.0	155.0					14																	70989722		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989722G>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1903C>T	14.37:g.70989722G>A	ENSP00000256389:p.His635Tyr						p.H635Y	NM_003814	NP_003805	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	2148	-			585			Cys-rich.|Extracellular (Potential).		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.1903C>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242800	0.22796	.	.	ENSG00000134007	ENST00000256389	T	0.21543	2.0	4.66	0.59	0.17458	ADAM, cysteine-rich (2);	0.846235	0.09859	N	0.746471	T	0.21145	0.0509	L	0.48218	1.51	0.09310	N	1	B	0.24576	0.106	B	0.31751	0.135	T	0.35871	-0.9771	10	0.42905	T	0.14	.	9.3858	0.38342	0.3293:0.0:0.6707:0.0	.	585	O43506	ADA20_HUMAN	Y	635	ENSP00000256389:H635Y	ENSP00000256389:H635Y	H	-	1	0	ADAM20	70059475	0.558000	0.26554	0.003000	0.11579	0.004000	0.04260	2.820000	0.48057	0.130000	0.18549	-0.259000	0.10710	CAC		0.443	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			6	139	0	0	0	0	6	139				
NRXN3	9369	broad.mit.edu	37	14	80130147	80130147	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr14:80130147C>A	ENST00000557594.1	+	3	1409	c.456C>A	c.(454-456)ttC>ttA	p.F152L	NRXN3_ENST00000281127.7_Missense_Mutation_p.F152L|NRXN3_ENST00000335750.5_Missense_Mutation_p.F784L|NRXN3_ENST00000428277.2_Missense_Mutation_p.F152L|NRXN3_ENST00000554719.1_Missense_Mutation_p.F784L|NRXN3_ENST00000556003.1_3'UTR|RP11-242P2.1_ENST00000553322.1_RNA	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	152	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.F784L(1)|p.F152L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAGTTGTCTTCAACATTGGCA	0.448																																						uc001xun.2		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(2350-2352)TTC>TTA		neurexin 3 isoform 1 precursor							96.0	90.0	92.0					14																	80130147		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:80130147C>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.456C>A	14.37:g.80130147C>A	ENSP00000451672:p.Phe152Leu					NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.F152L|NRXN3_uc010asw.2_Missense_Mutation_p.F152L|NRXN3_uc001xur.3_Missense_Mutation_p.F152L	p.F784L	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	14	2843	+		Renal(4;0.00876)	1157			Extracellular (Potential).|Laminin G-like 6.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.2352C>A		.	.	.	.	.	.	.	.	.	.	C	23.3	4.401279	0.83120	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.74	5.74	0.90152	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.84911	0.5577	M	0.86953	2.85	0.46823	D	0.999219	B;B;B;P	0.43662	0.376;0.27;0.149;0.814	B;B;B;P	0.50708	0.241;0.259;0.148;0.648	D	0.85598	0.1250	9	.	.	.	.	11.6396	0.51224	0.0:0.8627:0.0:0.1373	.	152;152;152;784	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	L	1157;1146;784;784;152;152;152	ENSP00000451648:F784L;ENSP00000338349:F784L;ENSP00000451672:F152L;ENSP00000281127:F152L;ENSP00000394426:F152L	.	F	+	3	2	NRXN3	79199900	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.277000	0.43417	2.873000	0.98535	0.563000	0.77884	TTC		0.448	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		21	29	1	0	1.28e-07	1.46e-07	21	29				
UBE3A	7337	broad.mit.edu	37	15	25616832	25616832	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:25616832G>T	ENST00000397954.2	-	4	497	c.498C>A	c.(496-498)agC>agA	p.S166R	UBE3A_ENST00000428984.2_Missense_Mutation_p.S143R|UBE3A_ENST00000438097.1_Missense_Mutation_p.S143R|UBE3A_ENST00000232165.3_Missense_Mutation_p.S163R|UBE3A_ENST00000566215.1_Missense_Mutation_p.S143R|SNHG14_ENST00000554726.1_RNA			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	166					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.S166R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTTTCCGGAAGCTCTGTACCA	0.363																																						uc001zaq.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(496-498)AGC>AGA		ubiquitin protein ligase E3A isoform 2							112.0	114.0	113.0					15																	25616832		2203	4300	6503	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25616832G>T	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.498C>A	15.37:g.25616832G>T	ENSP00000381045:p.Ser166Arg					uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.S143R|UBE3A_uc001zas.2_Missense_Mutation_p.S163R|UBE3A_uc001zat.2_Missense_Mutation_p.S143R	p.S166R	NM_000462	NP_000453	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	4	498	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	166					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.498C>A	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849216	0.51270	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.24908	1.84;1.83;1.86;1.86	5.84	2.94	0.34122	.	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.25012	-1.0144	10	0.56958	D	0.05	.	7.7452	0.28864	0.4399:0.0:0.5601:0.0	.	163;166	Q05086-3;Q05086	.;UBE3A_HUMAN	R	163;163;166;143;143	ENSP00000232165:S163R;ENSP00000381045:S166R;ENSP00000411258:S143R;ENSP00000401265:S143R	ENSP00000232165:S163R	S	-	3	2	UBE3A	23167925	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.999000	0.29757	0.384000	0.24942	0.591000	0.81541	AGC		0.363	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		70	106	1	0	7.07e-35	8.53e-35	70	106				
EIF2AK4	440275	broad.mit.edu	37	15	40241351	40241351	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:40241351C>G	ENST00000263791.5	+	4	438	c.395C>G	c.(394-396)tCa>tGa	p.S132*	EIF2AK4_ENST00000382727.2_Nonsense_Mutation_p.S132*|EIF2AK4_ENST00000559624.1_Nonsense_Mutation_p.S132*|snoU13_ENST00000459610.1_RNA	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	132	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CACGTGCAGTCATTTCTCAGC	0.478																																						uc001zkm.1		NA																	0				lung(2)|stomach(1)|skin(1)	4						c.(394-396)TCA>TGA		eukaryotic translation initiation factor 2 alpha							216.0	197.0	203.0					15																	40241351		1946	4132	6078	SO:0001587	stop_gained	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40241351C>G	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.395C>G	15.37:g.40241351C>G	ENSP00000263791:p.Ser132*					EIF2AK4_uc001zkl.2_Nonsense_Mutation_p.S132*	p.S132*	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	4	445	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	132			RWD.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Nonsense_Mutation	SNP	ENST00000263791.5	37	c.395C>G	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	C	37	6.017927	0.97205	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	.	.	.	5.8	5.8	0.92144	.	0.220885	0.41294	D	0.000918	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-8.9624	15.1696	0.72862	0.0:0.8592:0.1408:0.0	.	.	.	.	X	132	.	ENSP00000263791:S132X	S	+	2	0	EIF2AK4	38028643	0.990000	0.36364	0.996000	0.52242	0.972000	0.66771	2.547000	0.45786	2.738000	0.93877	0.555000	0.69702	TCA		0.478	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			21	320	0	0	0	0	21	320				
MEGF11	84465	broad.mit.edu	37	15	66190400	66190400	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:66190400C>T	ENST00000409699.2	-	23	3179	c.3007G>A	c.(3007-3009)Ggt>Agt	p.G1003S	MEGF11_ENST00000395625.2_Missense_Mutation_p.G928S|MEGF11_ENST00000478721.1_5'Flank|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.G928S|MEGF11_ENST00000422354.1_Missense_Mutation_p.G1003S			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	1003					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G928S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GAGTTATGACCGCAACCTTCT	0.458																																						uc002apm.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	pancreas(1)	1						c.(3007-3009)GGT>AGT		multiple EGF-like-domains 11 precursor							119.0	102.0	108.0					15																	66190400		2201	4299	6500	SO:0001583	missense	84465					basolateral plasma membrane|integral to membrane		g.chr15:66190400C>T	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.3007G>A	15.37:g.66190400C>T	ENSP00000386908:p.Gly1003Ser					MEGF11_uc002apl.2_Missense_Mutation_p.G928S	p.G1003S	NM_032445	NP_115821	A6BM72	MEG11_HUMAN			23	3148	-			1003					Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.3007G>A	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	C	0.305	-0.971296	0.02232	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625	D;D;D;D	0.86956	-2.19;-2.07;-2.19;-2.07	5.03	2.96	0.34315	.	0.222758	0.22396	U	0.060614	T	0.74313	0.3700	N	0.24115	0.695	0.09310	N	1	B;B	0.23891	0.001;0.093	B;B	0.14578	0.0;0.011	T	0.59820	-0.7382	10	0.30854	T	0.27	.	5.8607	0.18745	0.0:0.5197:0.2384:0.2419	.	1003;928	A6BM72;A6BM72-2	MEG11_HUMAN;.	S	1003;928;1003;928	ENSP00000386908:G1003S;ENSP00000288745:G928S;ENSP00000414475:G1003S;ENSP00000378987:G928S	ENSP00000288745:G928S	G	-	1	0	MEGF11	63977454	0.002000	0.14202	0.022000	0.16811	0.408000	0.30992	1.327000	0.33746	0.592000	0.29728	-0.136000	0.14681	GGT		0.458	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		29	46	0	0	0	0	29	46				
HCN4	10021	broad.mit.edu	37	15	73622066	73622066	+	Missense_Mutation	SNP	C	C	T	rs121908411		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:73622066C>T	ENST00000261917.3	-	4	2431	c.1438G>A	c.(1438-1440)Ggc>Agc	p.G480S		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	480					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.G480S(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGCCCGTAGCCGATGCACAGC	0.622																																						uc002avp.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(5)|liver(1)	6	GRCh37	CM073122	HCN4	M	rs121908411	c.(1438-1440)GGC>AGC		hyperpolarization activated cyclic							85.0	80.0	82.0					15																	73622066		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73622066C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1438G>A	15.37:g.73622066C>T	ENSP00000261917:p.Gly480Ser						p.G480S	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	4	2432	-			480					Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.1438G>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169606	0.78452	.	.	ENSG00000138622	ENST00000261917	D	0.99886	-7.52	4.37	4.37	0.52481	Ion transport (1);	.	.	.	.	D	0.99902	0.9953	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95848	0.8872	9	0.87932	D	0	.	16.9061	0.86128	0.0:1.0:0.0:0.0	.	480	Q9Y3Q4	HCN4_HUMAN	S	480	ENSP00000261917:G480S	ENSP00000261917:G480S	G	-	1	0	HCN4	71409119	1.000000	0.71417	0.931000	0.37212	0.714000	0.41099	7.684000	0.84104	2.139000	0.66308	0.561000	0.74099	GGC		0.622	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		34	35	0	0	0	0	34	35				
MAN2C1	4123	broad.mit.edu	37	15	75655014	75655014	+	Missense_Mutation	SNP	C	C	T	rs149884810		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:75655014C>T	ENST00000267978.5	-	7	912	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	MAN2C1_ENST00000563622.1_Intron|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R289Q|MAN2C1_ENST00000565683.1_Missense_Mutation_p.R289Q|MAN2C1_ENST00000563539.1_5'Flank	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	289					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTCAGGGTTCCGCTCCATGAG	0.622																																						uc002baf.2		NA																	0					0						c.(865-867)CGG>CAG		mannosidase, alpha, class 2C, member 1		C	GLN/ARG	0,4394		0,0,2197	67.0	68.0	68.0		866	-10.9	0.0	15	dbSNP_134	68	2,8586	2.2+/-6.3	0,2,4292	no	missense	MAN2C1	NM_006715.2	43	0,2,6489	TT,TC,CC		0.0233,0.0,0.0154	benign	289/1041	75655014	2,12980	2197	4294	6491	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75655014C>T	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.866G>A	15.37:g.75655014C>T	ENSP00000267978:p.Arg289Gln					MAN2C1_uc002bag.2_Missense_Mutation_p.R289Q|MAN2C1_uc002bah.2_Missense_Mutation_p.R289Q|MAN2C1_uc010bkk.2_Intron|MAN2C1_uc010umi.1_Missense_Mutation_p.R71Q|MAN2C1_uc010umj.1_RNA	p.R289Q	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN			7	883	-			289					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.866G>A	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358650	0.24598	0.0	2.33E-4	ENSG00000140400	ENST00000267978	T	0.79352	-1.26	5.45	-10.9	0.00192	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.734425	0.13173	N	0.408140	T	0.50017	0.1591	N	0.12611	0.24	0.09310	N	1	P;B;B	0.38582	0.638;0.001;0.0	B;B;B	0.32805	0.153;0.003;0.002	T	0.47446	-0.9117	10	0.09843	T	0.71	-6.6637	18.6996	0.91615	0.0:0.1239:0.0:0.8761	.	71;289;289	B4DVP6;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	Q	289	ENSP00000267978:R289Q	ENSP00000267978:R289Q	R	-	2	0	MAN2C1	73442067	0.049000	0.20398	0.008000	0.14137	0.294000	0.27393	-0.301000	0.08232	-2.397000	0.00581	-0.459000	0.05422	CGG		0.622	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			12	54	0	0	0	0	12	54				
NRG4	145957	broad.mit.edu	37	15	76254257	76254257	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:76254257T>A	ENST00000394907.3	-	4	344	c.163A>T	c.(163-165)Atc>Ttc	p.I55F	NRG4_ENST00000535975.1_Missense_Mutation_p.I55F	NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	55					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I55F(1)		large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						TTAGTTTGGATGCTGGAGCCT	0.388																																						uc002bbo.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(163-165)ATC>TTC		neuregulin 4							101.0	105.0	103.0					15																	76254257		2197	4294	6491	SO:0001583	missense	145957					extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr15:76254257T>A	BC017568	CCDS10288.1	15q23	2005-10-30			ENSG00000169752	ENSG00000169752			29862	protein-coding gene	gene with protein product		610894				12477932	Standard	NM_138573		Approved	HRG4	uc002bbo.3	Q8WWG1	OTTHUMG00000142917	ENST00000394907.3:c.163A>T	15.37:g.76254257T>A	ENSP00000378367:p.Ile55Phe					NRG4_uc010bkm.1_RNA|NRG4_uc002bbn.2_RNA|NRG4_uc010bkn.2_RNA|NRG4_uc010bko.2_RNA|NRG4_uc002bbp.2_RNA	p.I55F	NM_138573	NP_612640	Q8WWG1	NRG4_HUMAN			4	347	-			55			Extracellular (Potential).		A6NIE8	Missense_Mutation	SNP	ENST00000394907.3	37	c.163A>T	CCDS10288.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766612	0.69878	.	.	ENSG00000169752	ENST00000394907;ENST00000535975	T;T	0.18960	2.18;2.21	5.02	-0.231	0.13086	.	0.000000	0.31760	U	0.007106	T	0.24890	0.0604	M	0.76838	2.35	0.58432	D	0.999997	P	0.52061	0.95	P	0.53809	0.735	T	0.48246	-0.9052	10	0.09338	T	0.73	-2.8488	1.1064	0.01694	0.143:0.2546:0.1476:0.4548	.	55	Q8WWG1	NRG4_HUMAN	F	55	ENSP00000378367:I55F;ENSP00000441129:I55F	ENSP00000378367:I55F	I	-	1	0	NRG4	74041312	1.000000	0.71417	0.890000	0.34922	0.993000	0.82548	0.600000	0.24104	-0.334000	0.08463	0.455000	0.32223	ATC		0.388	NRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286632.1	NM_138573		80	108	0	0	0	0	80	108				
MAN2A2	4122	broad.mit.edu	37	15	91454654	91454654	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:91454654C>T	ENST00000559717.1	+	14	2442	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F	MAN2A2_ENST00000360468.3_Silent_p.F661F|MAN2A2_ENST00000431652.2_Silent_p.F169F|MAN2A2_ENST00000430376.2_5'Flank			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	661					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.F661F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGGAGCGATTCAGCATGGTGT	0.627																																						uc010bnz.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	large_intestine(2)|ovary(1)	3						c.(1981-1983)TTC>TTT		mannosidase, alpha, class 2A, member 2							167.0	138.0	148.0					15																	91454654		2198	4298	6496	SO:0001819	synonymous_variant	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91454654C>T	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1983C>T	15.37:g.91454654C>T						MAN2A2_uc002bqc.2_Silent_p.F661F|MAN2A2_uc010uql.1_Silent_p.F323F|MAN2A2_uc010uqm.1_Silent_p.F240F|MAN2A2_uc010uqn.1_5'Flank	p.F661F	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		14	2098	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		661			Lumenal (Potential).		A6NH12|A8K1E8|Q13754	Silent	SNP	ENST00000559717.1	37	c.1983C>T	CCDS32332.1																																																																																				0.627	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		36	102	0	0	0	0	36	102				
DNASE1L2	1775	broad.mit.edu	37	16	2288404	2288404	+	Silent	SNP	C	C	T	rs377410925		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:2288404C>T	ENST00000564065.1	+	6	1886	c.885C>T	c.(883-885)ctC>ctT	p.L295L	RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000382437.4_Silent_p.L274L|RP11-304L19.11_ENST00000565709.1_RNA|DNASE1L2_ENST00000567494.1_Silent_p.L295L|DNASE1L2_ENST00000320700.5_Silent_p.L295L			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2	295					corneocyte development (GO:0003335)|DNA metabolic process (GO:0006259)|hair follicle development (GO:0001942)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			endometrium(1)|prostate(1)|skin(2)	4						AGGTGACCCTCAAGTTCCACC	0.637																																						uc002cpo.2		NA																	0					0						c.(883-885)CTC>CTT		deoxyribonuclease I-like 2 precursor		C		1,4037		0,1,2018	80.0	84.0	82.0		885	2.9	1.0	16		82	0,8340		0,0,4170	no	coding-synonymous	DNASE1L2	NM_001374.2		0,1,6188	TT,TC,CC		0.0,0.0248,0.0081		295/300	2288404	1,12377	2019	4170	6189	SO:0001819	synonymous_variant	1775				DNA catabolic process	extracellular region	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding	g.chr16:2288404C>T	U62647	CCDS42105.1	16p13.3	2008-02-05				ENSG00000167968			2958	protein-coding gene	gene with protein product		602622				9205125, 1577479	Standard	NM_001374		Approved	DNAS1L2	uc002cpp.3	Q92874		ENST00000564065.1:c.885C>T	16.37:g.2288404C>T						DNASE1L2_uc002cpn.2_Silent_p.L274L|DNASE1L2_uc002cpp.2_Silent_p.L295L|DNASE1L2_uc002cpq.2_Silent_p.L295L	p.L295L	NM_001374	NP_001365	Q92874	DNSL2_HUMAN			6	1279	+			295					E9PBY4|Q6JVM2|Q6JVM3	Silent	SNP	ENST00000564065.1	37	c.885C>T	CCDS42105.1																																																																																				0.637	DNASE1L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435236.1	NM_001374		5	153	0	0	0	0	5	153				
ACSM2A	123876	broad.mit.edu	37	16	20489931	20489931	+	Missense_Mutation	SNP	G	G	A	rs570810199		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:20489931G>A	ENST00000573854.1	+	10	1327	c.1213G>A	c.(1213-1215)Ggc>Agc	p.G405S	ACSM2A_ENST00000536134.1_Missense_Mutation_p.G177S|ACSM2A_ENST00000575690.1_Missense_Mutation_p.G405S|ACSM2A_ENST00000219054.6_Missense_Mutation_p.G405S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.G405S|ACSM2A_ENST00000417235.2_Missense_Mutation_p.G326S	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	405					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCTGCCCCCCGGCACAGAAGG	0.512													g|||	1	0.000199681	0.0	0.0	5008	,	,		21699	0.001		0.0	False		,,,				2504	0.0					uc010bwe.2		NA																	0				skin(2)|breast(1)	3						c.(1213-1215)GGC>AGC		acyl-CoA synthetase medium-chain family member							91.0	78.0	83.0					16																	20489931		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20489931G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1213G>A	16.37:g.20489931G>A	ENSP00000459451:p.Gly405Ser					ACSM2A_uc010vax.1_Missense_Mutation_p.G326S|ACSM2A_uc002dhf.3_Missense_Mutation_p.G405S|ACSM2A_uc002dhg.3_Missense_Mutation_p.G405S|ACSM2A_uc010vay.1_Missense_Mutation_p.G326S|ACSM2A_uc002dhh.3_Missense_Mutation_p.G35S	p.G405S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			11	1452	+			405					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.1213G>A	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776104	0.31411	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	3.33	2.35	0.29111	AMP-dependent synthetase/ligase (1);	0.389024	0.21820	N	0.068623	T	0.72930	0.3522	M	0.87038	2.855	0.20196	N	0.999925	D;D	0.69078	0.997;0.997	P;P	0.61533	0.89;0.846	T	0.64407	-0.6415	10	0.87932	D	0	-5.9565	9.0433	0.36331	0.1108:0.0:0.8892:0.0	.	326;405	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	S	326;405;177;405	ENSP00000392169:G326S;ENSP00000219054:G405S;ENSP00000445082:G177S;ENSP00000379411:G405S	ENSP00000219054:G405S	G	+	1	0	ACSM2A	20397432	0.022000	0.18835	0.005000	0.12908	0.005000	0.04900	1.571000	0.36450	0.527000	0.28560	0.289000	0.19496	GGC		0.512	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		30	81	0	0	0	0	30	81				
ACSM3	6296	broad.mit.edu	37	16	20808211	20808211	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:20808211G>C	ENST00000289416.5	+	14	2153	c.1678G>C	c.(1678-1680)Gaa>Caa	p.E560Q	ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000567387.1_3'UTR|ERI2_ENST00000564349.1_3'UTR|ERI2_ENST00000569729.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.E552Q|ERI2_ENST00000357967.4_3'UTR	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	560					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						CCAACAGGTAGAATTTATTCA	0.323																																						uc002dhr.2		NA																	0				ovary(1)	1						c.(1678-1680)GAA>CAA		SA hypertension-associated homolog isoform 1							65.0	70.0	68.0					16																	20808211		2201	4298	6499	SO:0001583	missense	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20808211G>C	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1678G>C	16.37:g.20808211G>C	ENSP00000289416:p.Glu560Gln					ERI2_uc002dht.3_3'UTR|ACSM3_uc010vba.1_Missense_Mutation_p.E589Q|ERI2_uc002dhs.2_Intron|ERI2_uc010vbb.1_3'UTR|ERI2_uc010bwh.2_3'UTR|ERI2_uc010vbc.1_3'UTR|ERI2_uc002dhu.1_3'UTR	p.E560Q	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN			14	1865	+			560					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.1678G>C	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802432	0.90538	.	.	ENSG00000005187	ENST00000289416;ENST00000450120	T;T	0.57595	0.39;0.39	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.70245	0.3202	L	0.55743	1.74	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.972	T	0.68224	-0.5465	10	0.52906	T	0.07	-4.1596	20.3011	0.98612	0.0:0.0:1.0:0.0	.	552;560	E7ETR5;Q53FZ2	.;ACSM3_HUMAN	Q	560;552	ENSP00000289416:E560Q;ENSP00000395297:E552Q	ENSP00000289416:E560Q	E	+	1	0	ACSM3	20715712	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.333000	0.72939	2.804000	0.96469	0.650000	0.86243	GAA		0.323	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		3	91	0	0	0	0	3	91				
POLR3E	55718	broad.mit.edu	37	16	22344979	22344979	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:22344979C>T	ENST00000299853.5	+	21	2252	c.2085C>T	c.(2083-2085)agC>agT	p.S695S	POLR3E_ENST00000418581.2_Silent_p.S659S|POLR3E_ENST00000359210.4_Silent_p.S653S|POLR3E_ENST00000564209.1_Silent_p.S674S	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	695					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.S695S(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GCTGTGTAAGCTATGGTGGCA	0.433																																						uc002dkk.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(2083-2085)AGC>AGT		RNA polymerase III polypeptide E							218.0	177.0	191.0					16																	22344979		2197	4300	6497	SO:0001819	synonymous_variant	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22344979C>T	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.2085C>T	16.37:g.22344979C>T						POLR3E_uc002dkm.2_Silent_p.S659S|POLR3E_uc010vbr.1_Silent_p.S674S|POLR3E_uc002dkl.2_Silent_p.S653S|POLR3E_uc010vbs.1_Silent_p.S659S|POLR3E_uc010vbt.1_Silent_p.S639S	p.S695S	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	21	2241	+			695					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Silent	SNP	ENST00000299853.5	37	c.2085C>T	CCDS10605.1																																																																																				0.433	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		33	58	0	0	0	0	33	58				
CLN3	1201	broad.mit.edu	37	16	28498849	28498849	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:28498849C>T	ENST00000569430.1	-	8	1207	c.388G>A	c.(388-390)Gtc>Atc	p.V130I	CLN3_ENST00000357076.5_Missense_Mutation_p.V130I|CLN3_ENST00000360019.2_Missense_Mutation_p.V130I|CLN3_ENST00000355477.5_Missense_Mutation_p.V130I|CLN3_ENST00000395653.4_Missense_Mutation_p.V30I|CLN3_ENST00000535392.1_Missense_Mutation_p.V52I|CLN3_ENST00000357857.9_Missense_Mutation_p.V76I|CLN3_ENST00000333496.9_Missense_Mutation_p.V106I|CLN3_ENST00000568224.1_Missense_Mutation_p.V52I|CLN3_ENST00000359984.7_Missense_Mutation_p.V130I|CLN3_ENST00000567963.1_Missense_Mutation_p.V130I|CLN3_ENST00000357806.7_Missense_Mutation_p.R103H|CLN3_ENST00000354630.5_Missense_Mutation_p.V130I|CLN3_ENST00000565316.1_Missense_Mutation_p.V130I			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	130					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)	p.V130I(1)		breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						ATCCCACTGACGAGAACCCGG	0.587																																						uc002dpo.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(388-390)GTC>ATC		ceroid-lipofuscinosis, neuronal 3							85.0	67.0	73.0					16																	28498849		2197	4300	6497	SO:0001583	missense	1201				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	g.chr16:28498849C>T	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.388G>A	16.37:g.28498849C>T	ENSP00000454229:p.Val130Ile					uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.V52I|CLN3_uc010vcu.1_Missense_Mutation_p.V30I|CLN3_uc002dpn.2_Missense_Mutation_p.R103H|CLN3_uc002dpm.2_Missense_Mutation_p.V76I|CLN3_uc010vcv.1_Missense_Mutation_p.V106I|CLN3_uc010byd.2_Missense_Mutation_p.V130I|CLN3_uc002dpp.2_Missense_Mutation_p.V130I|CLN3_uc002dpt.1_Missense_Mutation_p.V30I|CLN3_uc002dpq.1_Missense_Mutation_p.V130I|CLN3_uc010bye.1_Missense_Mutation_p.V130I|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.R75H|CLN3_uc002dpu.1_Missense_Mutation_p.V76I|CLN3_uc002dpw.1_Missense_Mutation_p.R49H|CLN3_uc010vcw.1_Missense_Mutation_p.V76I|CLN3_uc002dqa.2_Missense_Mutation_p.V181I|CLN3_uc010vcx.1_Missense_Mutation_p.V30I|CLN3_uc002dpx.1_Missense_Mutation_p.R79H|CLN3_uc002dpy.1_Missense_Mutation_p.R46H|CLN3_uc002dpz.1_RNA	p.V130I	NM_000086	NP_000077	Q13286	CLN3_HUMAN			6	711	-			130			Helical; (Potential).		B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	37	c.388G>A	CCDS10632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.028|0.028	-1.352937|-1.352937	0.01256|0.01256	.|.	.|.	ENSG00000188603|ENSG00000188603	ENST00000333496;ENST00000357806|ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000395653;ENST00000357076	D|T;T;T;T;T;T;T;D	0.94184|0.96716	-3.37|0.39;0.39;0.39;0.39;0.39;0.39;0.39;-4.1	5.53|5.53	-0.392|-0.392	0.12442|0.12442	.|Major facilitator superfamily domain, general substrate transporter (1);	.|0.634673	.|0.16309	.|N	.|0.220076	D|D	0.84361|0.84361	0.5455|0.5455	N|N	0.04636|0.04636	-0.2|-0.2	0.20638|0.20638	N|N	0.999878|0.999878	B;B;B|B;B;B;B;B;B;B;B;B	0.10296|0.26041	0.001;0.003;0.001|0.14;0.001;0.001;0.001;0.046;0.001;0.002;0.001;0.001	B;B;B|B;B;B;B;B;B;B;B;B	0.08055|0.16289	0.001;0.003;0.0|0.015;0.004;0.001;0.002;0.012;0.003;0.003;0.003;0.003	T|T	0.76961|0.76961	-0.2765|-0.2765	9|10	0.72032|0.06891	D|T	0.01|0.86	-15.7026|-15.7026	5.195|5.195	0.15232|0.15232	0.0:0.3593:0.355:0.2857|0.0:0.3593:0.355:0.2857	.|.	49;79;103|30;106;130;130;181;76;30;130;130	O95093;O95090;O95089|B4DFT5;B4DXL3;Q13286-3;Q13286-4;B4DIA8;O95086;B4DMY6;Q13286-2;Q13286	.;.;.|.;.;.;.;.;.;.;.;CLN3_HUMAN	H|I	79;103|52;130;130;130;130;76;30;130	ENSP00000350457:R103H|ENSP00000443221:V52I;ENSP00000353073:V130I;ENSP00000353116:V130I;ENSP00000346650:V130I;ENSP00000347660:V130I;ENSP00000350523:V76I;ENSP00000379014:V30I;ENSP00000349586:V130I	ENSP00000329171:R79H|ENSP00000346650:V130I	R|V	-|-	2|1	0|0	CLN3|CLN3	28406350|28406350	0.001000|0.001000	0.12720|0.12720	0.203000|0.203000	0.23512|0.23512	0.385000|0.385000	0.30292|0.30292	-0.769000|-0.769000	0.04710|0.04710	0.010000|0.010000	0.14839|0.14839	-0.906000|-0.906000	0.02833|0.02833	CGT|GTC		0.587	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			18	31	0	0	0	0	18	31				
CDH5	1003	broad.mit.edu	37	16	66430060	66430060	+	Missense_Mutation	SNP	C	C	T	rs200897127		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:66430060C>T	ENST00000341529.3	+	8	1464	c.1316C>T	c.(1315-1317)cCc>cTc	p.P439L	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	439	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GAAGTCTACCCCTGGTATAAC	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		20525	0.001		0.0	False		,,,				2504	0.0					uc002eom.3		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(1315-1317)CCC>CTC		cadherin 5, type 2 preproprotein							93.0	90.0	91.0					16																	66430060		2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66430060C>T	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1316C>T	16.37:g.66430060C>T	ENSP00000344115:p.Pro439Leu						p.P439L	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	8	1472	+		Ovarian(137;0.0955)	439			Cadherin 4.|Extracellular (Potential).		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1316C>T	CCDS10804.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.65	1.410671	0.25465	.	.	ENSG00000179776	ENST00000341529;ENST00000539262	T	0.61980	0.06	4.96	4.96	0.65561	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.61236	0.2331	M	0.64404	1.975	0.27688	N	0.946202	P	0.36183	0.542	B	0.39771	0.309	T	0.54708	-0.8253	9	0.22706	T	0.39	.	12.4652	0.55753	0.167:0.833:0.0:0.0	.	439	P33151	CADH5_HUMAN	L	439;180	ENSP00000344115:P439L	ENSP00000344115:P439L	P	+	2	0	CDH5	64987561	0.001000	0.12720	0.656000	0.29637	0.977000	0.68977	1.471000	0.35365	2.590000	0.87494	0.561000	0.74099	CCC		0.498	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		39	78	0	0	0	0	39	78				
NFATC3	4775	broad.mit.edu	37	16	68224779	68224779	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:68224779C>T	ENST00000346183.3	+	9	2231	c.2207C>T	c.(2206-2208)tCa>tTa	p.S736L	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.S736L|SNORA48_ENST00000391143.1_RNA|NFATC3_ENST00000329524.4_Missense_Mutation_p.S736L|NFATC3_ENST00000349223.5_Missense_Mutation_p.S736L	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	736					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCAGGGTGTTCACATGACAGT	0.478																																						uc002evo.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3						c.(2206-2208)TCA>TTA		nuclear factor of activated T-cells,							105.0	90.0	95.0					16																	68224779		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68224779C>T	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2207C>T	16.37:g.68224779C>T	ENSP00000300659:p.Ser736Leu					NFATC3_uc010vkl.1_Missense_Mutation_p.S257L|NFATC3_uc010vkm.1_Missense_Mutation_p.S257L|NFATC3_uc010vkn.1_Missense_Mutation_p.S257L|NFATC3_uc010vko.1_Missense_Mutation_p.S257L|NFATC3_uc010vkp.1_Missense_Mutation_p.S257L|NFATC3_uc010vkq.1_Missense_Mutation_p.S257L|NFATC3_uc002evl.2_Missense_Mutation_p.S257L|NFATC3_uc002evk.2_Missense_Mutation_p.S736L|NFATC3_uc002evm.1_Missense_Mutation_p.S736L|NFATC3_uc002evn.1_Missense_Mutation_p.S736L|NFATC3_uc010vkr.1_Missense_Mutation_p.S257L|NFATC3_uc010vks.1_Missense_Mutation_p.S257L|NFATC3_uc010vkt.1_Missense_Mutation_p.S257L|NFATC3_uc010vku.1_Missense_Mutation_p.S257L|NFATC3_uc010vkv.1_Missense_Mutation_p.S257L|NFATC3_uc010vkw.1_Missense_Mutation_p.S257L|NFATC3_uc010vkx.1_Missense_Mutation_p.S257L|NFATC3_uc010vky.1_Missense_Mutation_p.S257L|NFATC3_uc010vkz.1_Missense_Mutation_p.S257L|NFATC3_uc010vla.1_Missense_Mutation_p.S257L|NFATC3_uc010vlb.1_Missense_Mutation_p.S257L|NFATC3_uc010vlc.1_Missense_Mutation_p.S257L	p.S736L	NM_173165	NP_775188	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	9	2417	+		Ovarian(137;0.0563)	736					O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.2207C>T	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	C	9.331	1.060518	0.19987	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.08370	3.1;3.1;3.11	5.55	2.5	0.30297	.	0.529748	0.20797	N	0.085501	T	0.04407	0.0121	N	0.14661	0.345	0.29472	N	0.856985	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.41233	-0.9520	10	0.10636	T	0.68	0.9558	9.75	0.40470	0.0:0.7722:0.0:0.2278	.	736;736;736;736	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	L	736;736;736;257	ENSP00000264008:S736L;ENSP00000300659:S736L;ENSP00000331324:S736L	ENSP00000331324:S736L	S	+	2	0	NFATC3	66782280	1.000000	0.71417	0.990000	0.47175	0.093000	0.18481	3.417000	0.52714	0.281000	0.22233	0.557000	0.71058	TCA		0.478	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		9	137	0	0	0	0	9	137				
CHST6	4166	broad.mit.edu	37	16	75512968	75512968	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:75512968G>A	ENST00000332272.4	-	3	938	c.759C>T	c.(757-759)gcC>gcT	p.A253A	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.A253A	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	253					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)	p.A253A(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGGCGGCCTCGGCGATGCGTA	0.716																																						uc002fef.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)		0						c.(757-759)GCC>GCT		carbohydrate (N-acetylglucosamine 6-O)							24.0	29.0	27.0					16																	75512968		2190	4287	6477	SO:0001819	synonymous_variant	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75512968G>A	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.759C>T	16.37:g.75512968G>A						CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.A253A	p.A253A	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	939	-			253			Lumenal (Potential).		D3DUK3	Silent	SNP	ENST00000332272.4	37	c.759C>T	CCDS10918.1																																																																																				0.716	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		22	33	0	0	0	0	22	33				
ADAMTS18	170692	broad.mit.edu	37	16	77465305	77465305	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:77465305C>G	ENST00000282849.5	-	3	800	c.382G>C	c.(382-384)Gga>Cga	p.G128R	RP11-449J10.1_ENST00000564358.1_RNA|ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	128					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCATCTTTTCCAAGTACCTGG	0.473																																						uc002ffc.3		NA																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(382-384)GGA>CGA		ADAM metallopeptidase with thrombospondin type 1							110.0	110.0	110.0					16																	77465305		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77465305C>G	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.382G>C	16.37:g.77465305C>G	ENSP00000282849:p.Gly128Arg					ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA	p.G128R	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			3	801	-			128					Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.382G>C	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600215	0.87055	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.05925	3.37;3.37	5.93	5.93	0.95920	Peptidase M12B, propeptide (1);	0.119448	0.56097	D	0.000031	T	0.15869	0.0382	L	0.56769	1.78	0.80722	D	1	P	0.45176	0.852	P	0.49085	0.6	T	0.00034	-1.2266	10	0.48119	T	0.1	.	19.3377	0.94326	0.0:1.0:0.0:0.0	.	128	Q8TE60	ATS18_HUMAN	R	128	ENSP00000282849:G128R;ENSP00000392540:G128R	ENSP00000282849:G128R	G	-	1	0	ADAMTS18	76022806	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	3.386000	0.52492	2.814000	0.96858	0.591000	0.81541	GGA		0.473	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			4	205	0	0	0	0	4	205				
CLEC3A	10143	broad.mit.edu	37	16	78064472	78064472	+	Nonsense_Mutation	SNP	G	G	T	rs202038528		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:78064472G>T	ENST00000575655.1	+	3	409	c.328G>T	c.(328-330)Gaa>Taa	p.E110*	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000299642.4_Nonsense_Mutation_p.E119*|CLEC3A_ENST00000565808.1_3'UTR	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	110	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.E110*(1)|p.E110Q(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GAACTCCGACGAAATCAACGC	0.478																																						uc002ffh.3		NA																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		upper_aerodigestive_tract(1)|lung(1)		0						c.(328-330)GAA>TAA		C-type lectin domain family 3 member A							79.0	71.0	73.0					16																	78064472		2198	4300	6498	SO:0001587	stop_gained	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064472G>T	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.328G>T	16.37:g.78064472G>T	ENSP00000460682:p.Glu110*						p.E110*	NM_005752	NP_005743	O75596	CLC3A_HUMAN			3	409	+			110			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Nonsense_Mutation	SNP	ENST00000575655.1	37	c.328G>T		.	.	.	.	.	.	.	.	.	.	G	35	5.591332	0.96590	.	.	ENSG00000166509	ENST00000299642	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.4051	19.9381	0.97149	0.0:0.0:1.0:0.0	.	.	.	.	X	110	.	ENSP00000299642:E110X	E	+	1	0	CLEC3A	76621973	1.000000	0.71417	0.770000	0.31555	0.804000	0.45430	9.420000	0.97426	2.880000	0.98712	0.650000	0.86243	GAA		0.478	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		47	84	1	0	8.21e-20	9.75e-20	47	84				
PLD2	5338	broad.mit.edu	37	17	4713248	4713248	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:4713248G>A	ENST00000263088.6	+	9	915	c.784G>A	c.(784-786)Gac>Aac	p.D262N	PLD2_ENST00000572940.1_Missense_Mutation_p.D262N|RP11-81A22.5_ENST00000571067.1_lincRNA	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	262	PH.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TCAGCTCTTTGACCCTGGCTT	0.592																																						uc002fzc.2		NA																	0				breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5						c.(784-786)GAC>AAC		phospholipase D2	Choline(DB00122)						167.0	143.0	151.0					17																	4713248		2203	4300	6503	SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4713248G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.784G>A	17.37:g.4713248G>A	ENSP00000263088:p.Asp262Asn					PLD2_uc010vsj.1_Missense_Mutation_p.D119N|PLD2_uc002fzd.2_Missense_Mutation_p.D262N	p.D262N	NM_002663	NP_002654	O14939	PLD2_HUMAN			9	885	+			262			PH.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.784G>A	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	35	5.528302	0.96446	.	.	ENSG00000129219	ENST00000263088	T	0.16457	2.34	5.83	5.83	0.93111	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.50633	0.1627	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.988	T	0.56619	-0.7949	10	0.72032	D	0.01	-28.9337	17.6156	0.88066	0.0:0.0:1.0:0.0	.	119;262;262	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	N	262	ENSP00000263088:D262N	ENSP00000263088:D262N	D	+	1	0	PLD2	4660212	1.000000	0.71417	0.971000	0.41717	0.993000	0.82548	9.105000	0.94246	2.763000	0.94921	0.561000	0.74099	GAC		0.592	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		5	148	0	0	0	0	5	148				
NLRP1	22861	broad.mit.edu	37	17	5418344	5418344	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:5418344C>A	ENST00000572272.1	-	17	4151	c.4152G>T	c.(4150-4152)caG>caT	p.Q1384H	NLRP1_ENST00000354411.3_Missense_Mutation_p.Q1354H|NLRP1_ENST00000262467.5_Intron|RNU7-31P_ENST00000517262.1_RNA|NLRP1_ENST00000345221.3_Missense_Mutation_p.Q1340H|NLRP1_ENST00000269280.4_Missense_Mutation_p.Q1340H|NLRP1_ENST00000577119.1_Missense_Mutation_p.Q1310H			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1384	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.Q1384H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCTCTCGATACTGGTCCACAA	0.582																																						uc002gci.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(4150-4152)CAG>CAT		NLR family, pyrin domain containing 1 isoform 1							57.0	61.0	60.0					17																	5418344		2109	4228	6337	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5418344C>A	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.4152G>T	17.37:g.5418344C>A	ENSP00000460475:p.Gln1384His					NLRP1_uc002gcg.1_Intron|NLRP1_uc002gck.2_Missense_Mutation_p.Q1340H|NLRP1_uc002gcj.2_Missense_Mutation_p.Q1354H|NLRP1_uc002gcl.2_Missense_Mutation_p.Q1310H|NLRP1_uc002gch.3_Missense_Mutation_p.Q1340H	p.Q1384H	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			17	4707	-		Colorectal(1115;3.48e-05)	1384			CARD.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.4152G>T	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596240	0.46318	.	.	ENSG00000091592	ENST00000269280;ENST00000354411;ENST00000345221	T;T	0.22134	1.97;1.97	5.07	0.884	0.19182	DEATH-like (2);Caspase Recruitment (2);	1.655740	0.03852	N	0.272379	T	0.38852	0.1056	L	0.48362	1.52	0.09310	N	1	D;D;D;D	0.76494	0.998;0.998;0.999;0.998	D;D;D;D	0.67103	0.916;0.916;0.949;0.916	T	0.24977	-1.0145	10	0.72032	D	0.01	.	8.6904	0.34262	0.0:0.6815:0.0:0.3185	.	1310;1354;1384;1340	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2	.;.;NALP1_HUMAN;.	H	1384;1354;1340	ENSP00000346390:Q1354H;ENSP00000324366:Q1340H	ENSP00000269280:Q1384H	Q	-	3	2	NLRP1	5359068	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.204000	0.09425	0.034000	0.15491	-0.142000	0.14014	CAG		0.582	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		21	37	1	0	8.1e-08	9.22e-08	21	37				
C17orf75	64149	broad.mit.edu	37	17	30668260	30668260	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:30668260C>T	ENST00000577809.1	-	2	233	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	C17orf75_ENST00000225805.4_Missense_Mutation_p.G62S|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	62										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GCATTTGTGCCACTTGGGCTT	0.463																																						uc002hhg.2		NA																	0				ovary(1)	1						c.(184-186)GGC>AGC		hypothetical protein LOC64149							225.0	221.0	222.0					17																	30668260		1991	4189	6180	SO:0001583	missense	64149				spermatogenesis			g.chr17:30668260C>T	AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.184G>A	17.37:g.30668260C>T	ENSP00000464275:p.Gly62Ser						p.G62S	NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		2	215	-		Breast(31;0.116)|Ovarian(249;0.182)	62					Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	37	c.184G>A	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197864	0.38806	.	.	ENSG00000108666	ENST00000225805	.	.	.	4.79	2.72	0.32119	.	0.287667	0.40469	N	0.001088	T	0.24967	0.0606	N	0.14661	0.345	0.34072	D	0.658554	B	0.06786	0.001	B	0.10450	0.005	T	0.21793	-1.0235	9	0.14252	T	0.57	0.0929	7.5814	0.27967	0.0:0.7314:0.0:0.2686	.	62	Q9HAS0	NJMU_HUMAN	S	62	.	ENSP00000225805:G62S	G	-	1	0	C17orf75	27692373	0.284000	0.24287	0.973000	0.42090	0.996000	0.88848	0.361000	0.20267	1.130000	0.42092	0.462000	0.41574	GGC		0.463	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		8	241	0	0	0	0	8	241				
RFFL	117584	broad.mit.edu	37	17	33343399	33343399	+	Silent	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:33343399G>C	ENST00000315249.7	-	5	1098	c.876C>G	c.(874-876)ctC>ctG	p.L292L	RFFL_ENST00000415395.2_Silent_p.L292L|RAD51L3-RFFL_ENST00000593039.1_Silent_p.L209L|RFFL_ENST00000447669.2_Silent_p.L292L|RFFL_ENST00000268850.7_Silent_p.L264L|RFFL_ENST00000584655.1_Silent_p.L264L|RFFL_ENST00000413582.2_Silent_p.L292L|RFFL_ENST00000394597.2_Silent_p.L292L|RFFL_ENST00000378516.2_Silent_p.L292L					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CCAGGTGCTGGAGTCCTTTCT	0.502																																						uc002hin.1		NA																	0					0						c.(874-876)CTC>CTG		rififylin							151.0	139.0	143.0					17																	33343399		2203	4300	6503	SO:0001819	synonymous_variant	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33343399G>C	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.876C>G	17.37:g.33343399G>C						RFFL_uc002hiq.2_Silent_p.L209L|RFFL_uc002him.1_Silent_p.L292L|RFFL_uc010cti.1_Silent_p.L298L|RFFL_uc002hip.1_Silent_p.L264L|RFFL_uc002hio.1_Silent_p.L292L	p.L292L	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	5	1049	-		Ovarian(249;0.17)	292						Silent	SNP	ENST00000315249.7	37	c.876C>G	CCDS11286.1																																																																																				0.502	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		3	209	0	0	0	0	3	209				
RASL10B	91608	broad.mit.edu	37	17	34068186	34068186	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:34068186C>T	ENST00000268864.3	+	4	851	c.474C>T	c.(472-474)tgC>tgT	p.C158C		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	158	Small GTPase-like.				GTP catabolic process (GO:0006184)|positive regulation of peptide hormone secretion (GO:0090277)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.C158C(1)		breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACGTGGAATGCTCGGCCAAGT	0.647																																						uc002hju.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	lung(2)|breast(2)	4						c.(472-474)TGC>TGT		RAS-like, family 10, member B precursor							93.0	66.0	75.0					17																	34068186		2203	4300	6503	SO:0001819	synonymous_variant	91608				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr17:34068186C>T	BC041133	CCDS11297.1	17q21.1	2014-05-09			ENSG00000141150	ENSG00000270885			30295	protein-coding gene	gene with protein product		612128				12477932	Standard	NM_033315		Approved	VTS58635, RRP17	uc002hju.3	Q96S79	OTTHUMG00000188385	ENST00000268864.3:c.474C>T	17.37:g.34068186C>T							p.C158C	NM_033315	NP_201572	Q96S79	RSLAB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	840	+			158			Small GTPase-like.		B3KV31	Silent	SNP	ENST00000268864.3	37	c.474C>T	CCDS11297.1																																																																																				0.647	RASL10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256498.2	NM_033315		22	45	0	0	0	0	22	45				
NSF	4905	broad.mit.edu	37	17	44770362	44770362	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:44770362C>G	ENST00000398238.4	+	10	1146	c.1039C>G	c.(1039-1041)Cat>Gat	p.H347D	NSF_ENST00000575068.1_Missense_Mutation_p.H342D|NSF_ENST00000225282.8_Missense_Mutation_p.H253D	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	347					exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		CACGGGAGTTCATGACACTGT	0.423																																					Ovarian(25;472 742 1472 36813 50223)	uc002iku.2		NA																	0				ovary(1)	1						c.(1039-1041)CAT>GAT		vesicle-fusing ATPase							56.0	57.0	57.0					17																	44770362		1924	4122	6046	SO:0001583	missense	4905				protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	g.chr17:44770362C>G		CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"""ATPases / AAA-type"""	8016	protein-coding gene	gene with protein product	"""N-ethylmaleimide-sensitive factor-like protein"""	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.1039C>G	17.37:g.44770362C>G	ENSP00000381293:p.His347Asp					NSF_uc010wke.1_Missense_Mutation_p.H253D|NSF_uc010wkf.1_Missense_Mutation_p.H253D|NSF_uc010wkg.1_Missense_Mutation_p.H342D	p.H347D	NM_006178	NP_006169	P46459	NSF_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)	10	1143	+		Melanoma(429;0.203)	347					A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Missense_Mutation	SNP	ENST00000398238.4	37	c.1039C>G	CCDS42354.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987132	0.74589	.	.	ENSG00000073969	ENST00000398238;ENST00000225282	D;D	0.92545	-3.06;-3.06	4.06	4.06	0.47325	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	N	0.05031	-0.125	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	D	0.86484	0.1793	10	0.11794	T	0.64	-12.0293	16.5951	0.84794	0.0:1.0:0.0:0.0	.	347	P46459	NSF_HUMAN	D	347;253	ENSP00000381293:H347D;ENSP00000225282:H253D	ENSP00000225282:H253D	H	+	1	0	NSF	42125546	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.767000	0.85331	1.969000	0.57287	0.455000	0.32223	CAT		0.423	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259348.2	NM_006178		3	106	0	0	0	0	3	106				
TRIM37	4591	broad.mit.edu	37	17	57165711	57165711	+	Silent	SNP	T	T	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:57165711T>C	ENST00000262294.7	-	4	481	c.222A>G	c.(220-222)caA>caG	p.Q74Q	TRIM37_ENST00000393066.3_Silent_p.Q74Q|TRIM37_ENST00000376149.3_5'UTR|TRIM37_ENST00000393065.2_Silent_p.Q40Q|TRIM37_ENST00000584889.1_Silent_p.Q74Q	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	74					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q74Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TATCAAGCTGTTGTGTTACTT	0.383									Mulibrey Nanism																													uc002iwy.3		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7						c.(220-222)CAA>CAG		tripartite motif-containing 37 protein							153.0	125.0	135.0					17																	57165711		2203	4300	6503	SO:0001819	synonymous_variant	4591	Mulibrey_Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57165711T>C	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.222A>G	17.37:g.57165711T>C						TRIM37_uc002iwz.3_Silent_p.Q74Q|TRIM37_uc002ixa.3_5'UTR|TRIM37_uc010woc.1_Silent_p.Q40Q	p.Q74Q	NM_001005207	NP_001005207	O94972	TRI37_HUMAN			4	666	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		74					Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	ENST00000262294.7	37	c.222A>G	CCDS32694.1																																																																																				0.383	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		22	29	0	0	0	0	22	29				
GNA13	10672	broad.mit.edu	37	17	63010430	63010430	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:63010430C>A	ENST00000439174.2	-	4	1324	c.1079G>T	c.(1078-1080)cGt>cTt	p.R360L	GNA13_ENST00000541118.1_Missense_Mutation_p.R265L	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	360					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CTTCACGTCACGGAAAACAAG	0.443																																						uc002jfc.2		NA																	0					0						c.(1078-1080)CGT>CTT		guanine nucleotide binding protein (G protein),							132.0	102.0	112.0					17																	63010430		2203	4300	6503	SO:0001583	missense	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63010430C>A	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.1079G>T	17.37:g.63010430C>A	ENSP00000400717:p.Arg360Leu					GNA13_uc010wqh.1_Missense_Mutation_p.R265L	p.R360L	NM_006572	NP_006563	Q14344	GNA13_HUMAN			4	1288	-			360					B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	c.1079G>T	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510347	0.64522	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.88509	-2.39;-2.39	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.93275	0.7857	L	0.50333	1.59	0.80722	D	1	D	0.64830	0.994	D	0.76575	0.988	D	0.93125	0.6528	10	0.72032	D	0.01	.	19.949	0.97192	0.0:1.0:0.0:0.0	.	360	Q14344	GNA13_HUMAN	L	360;265;335	ENSP00000400717:R360L;ENSP00000439647:R265L	ENSP00000239138:R335L	R	-	2	0	GNA13	60440892	1.000000	0.71417	0.969000	0.41365	0.846000	0.48090	4.984000	0.63838	2.826000	0.97356	0.655000	0.94253	CGT		0.443	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		3	97	1	0	0.004672	0.00500704	3	97				
SSTR2	6752	broad.mit.edu	37	17	71166310	71166310	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:71166310C>T	ENST00000357585.2	+	2	1221	c.852C>T	c.(850-852)atC>atT	p.I284I	SSTR2_ENST00000315332.2_Silent_p.I284I|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	284					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CCATGGCCATCAGCCCCACCC	0.507																																						uc002jje.2		NA																	0					0						c.(850-852)ATC>ATT		somatostatin receptor 2							200.0	165.0	177.0					17																	71166310		2203	4300	6503	SO:0001819	synonymous_variant	6752				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	g.chr17:71166310C>T		CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"""GPCR / Class A : Somatostatin receptors"""	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.852C>T	17.37:g.71166310C>T							p.I284I	NM_001050	NP_001041	P30874	SSR2_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	1212	+			284			Extracellular (Potential).		A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Silent	SNP	ENST00000357585.2	37	c.852C>T	CCDS11691.1																																																																																				0.507	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			5	199	0	0	0	0	5	199				
NOL4	8715	broad.mit.edu	37	18	31538327	31538327	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr18:31538327C>T	ENST00000261592.5	-	7	1409	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	NOL4_ENST00000269185.4_Missense_Mutation_p.R257Q|NOL4_ENST00000535384.1_Missense_Mutation_p.R86Q|NOL4_ENST00000589544.1_Missense_Mutation_p.R371Q|NOL4_ENST00000538587.1_Missense_Mutation_p.R297Q|NOL4_ENST00000535475.1_Missense_Mutation_p.R216Q	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	371						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTCAGCTCCTCGGTCTACACT	0.453																																						uc010dmi.2		NA																	0				ovary(3)	3						c.(1111-1113)CGA>CAA		nucleolar protein 4							248.0	218.0	228.0					18																	31538327		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31538327C>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1112G>A	18.37:g.31538327C>T	ENSP00000261592:p.Arg371Gln					NOL4_uc010xbs.1_Missense_Mutation_p.R86Q|NOL4_uc002kxr.3_Missense_Mutation_p.R207Q|NOL4_uc010xbt.1_Missense_Mutation_p.R297Q|NOL4_uc010dmh.2_Missense_Mutation_p.R297Q|NOL4_uc010xbu.1_Missense_Mutation_p.R371Q|NOL4_uc002kxt.3_Missense_Mutation_p.R371Q|NOL4_uc010xbv.1_Missense_Mutation_p.R120Q|NOL4_uc010xbw.1_Missense_Mutation_p.R257Q	p.R371Q	NM_003787	NP_003778	O94818	NOL4_HUMAN			7	1341	-			371					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1112G>A	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438329	0.43326	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	T;T	0.79033	-1.23;-1.23	5.64	5.64	0.86602	.	0.092195	0.47093	D	0.000243	T	0.80314	0.4600	L	0.40543	1.245	0.32807	D	0.500939	D;D;D;P;D;D;P;D	0.76494	0.999;0.997;0.989;0.938;0.98;0.989;0.951;0.998	P;P;P;B;P;P;B;P	0.57009	0.717;0.742;0.579;0.283;0.469;0.579;0.283;0.811	T	0.77595	-0.2529	10	0.14252	T	0.57	-16.269	19.7023	0.96060	0.0:1.0:0.0:0.0	.	257;120;86;297;371;86;371;216	B4DLW2;F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;.;.;NOL4_HUMAN;.;.;.	Q	371;257;120;86;216;297	ENSP00000445733:R86Q;ENSP00000443472:R297Q	ENSP00000261592:R371Q	R	-	2	0	NOL4	29792325	1.000000	0.71417	0.912000	0.35992	0.083000	0.17756	3.720000	0.54933	2.639000	0.89480	0.557000	0.71058	CGA		0.453	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		11	351	0	0	0	0	11	351				
MBD1	4152	broad.mit.edu	37	18	47799971	47799971	+	Missense_Mutation	SNP	G	G	A	rs199727558		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr18:47799971G>A	ENST00000591416.1	-	12	1840	c.1409C>T	c.(1408-1410)cCg>cTg	p.P470L	MBD1_ENST00000398488.1_Missense_Mutation_p.P414L|MBD1_ENST00000269468.5_Missense_Mutation_p.P470L|MBD1_ENST00000436910.1_Missense_Mutation_p.P447L|MBD1_ENST00000269471.5_Missense_Mutation_p.P447L|MBD1_ENST00000339998.6_Missense_Mutation_p.P470L|MBD1_ENST00000585595.1_Missense_Mutation_p.P495L|MBD1_ENST00000588937.1_Missense_Mutation_p.P447L|MBD1_ENST00000457839.2_Missense_Mutation_p.P495L|MBD1_ENST00000590208.1_Missense_Mutation_p.P470L|MBD1_ENST00000347968.3_Missense_Mutation_p.P414L|MBD1_ENST00000585672.1_Missense_Mutation_p.P420L|MBD1_ENST00000587605.1_Missense_Mutation_p.P414L|MBD1_ENST00000591535.1_Missense_Mutation_p.P447L|MBD1_ENST00000353909.3_Missense_Mutation_p.P421L|MBD1_ENST00000398495.2_Missense_Mutation_p.P439L|MBD1_ENST00000382948.5_Missense_Mutation_p.P470L|MBD1_ENST00000424334.2_Missense_Mutation_p.P521L|MBD1_ENST00000349085.2_Missense_Mutation_p.P414L|MBD1_ENST00000398493.1_Missense_Mutation_p.P414L			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	470					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.P470L(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						AACAGGGCCCGGCACCTGCAC	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20298	0.0		0.0	False		,,,				2504	0.0					uc010dow.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1408-1410)CCG>CTG		methyl-CpG binding domain protein 1 isoform 1							37.0	38.0	37.0					18																	47799971		2203	4300	6503	SO:0001583	missense	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47799971G>A	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1409C>T	18.37:g.47799971G>A	ENSP00000467017:p.Pro470Leu					MBD1_uc002lef.2_Missense_Mutation_p.P221L|MBD1_uc002leg.2_Missense_Mutation_p.P420L|MBD1_uc010xdi.1_Missense_Mutation_p.P521L|MBD1_uc002leh.3_Missense_Mutation_p.P414L|MBD1_uc002len.2_Missense_Mutation_p.P470L|MBD1_uc002lei.3_Missense_Mutation_p.P470L|MBD1_uc002lej.3_Missense_Mutation_p.P414L|MBD1_uc002lek.3_Missense_Mutation_p.P421L|MBD1_uc002lel.3_Missense_Mutation_p.P447L|MBD1_uc002lem.3_Missense_Mutation_p.P470L|MBD1_uc010xdj.1_Missense_Mutation_p.P414L|MBD1_uc010xdk.1_Missense_Mutation_p.P495L|MBD1_uc010dox.1_Missense_Mutation_p.P447L|MBD1_uc002leo.2_Missense_Mutation_p.P470L	p.P470L	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN			12	1846	-			470					A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.1409C>T	CCDS11943.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	16.33	3.093256	0.56075	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D	0.98455	-3.94;-3.97;-4.94;-3.94;-4.05;-3.82;-3.83;-3.99;-3.95;-3.96;-4.05;-4.94	4.45	4.45	0.53987	.	0.103312	0.43747	D	0.000529	D	0.97726	0.9254	L	0.29908	0.895	0.52099	D	0.999943	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.996;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.996;0.815;0.999;1.0;1.0;0.978;0.996;0.999;1.0;0.999;1.0	D	0.97420	1.0008	10	0.87932	D	0	-9.8301	12.8926	0.58080	0.0:0.0:1.0:0.0	.	414;521;447;470;470;447;421;414;470;414;495;414	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	L	470;421;414;470;414;447;447;521;470;470;495;414;414	ENSP00000372407:P470L;ENSP00000269469:P421L;ENSP00000342531:P414L;ENSP00000269468:P470L;ENSP00000285102:P414L;ENSP00000409561:P447L;ENSP00000269471:P447L;ENSP00000408846:P521L;ENSP00000339546:P470L;ENSP00000405268:P495L;ENSP00000381506:P414L;ENSP00000381502:P414L	ENSP00000269468:P470L	P	-	2	0	MBD1	46053969	0.999000	0.42202	0.995000	0.50966	0.647000	0.38526	3.873000	0.56093	2.759000	0.94783	0.561000	0.74099	CCG		0.637	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		28	32	0	0	0	0	28	32				
CXXC1	30827	broad.mit.edu	37	18	47812188	47812188	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr18:47812188C>T	ENST00000285106.6	-	5	1284	c.570G>A	c.(568-570)atG>atA	p.M190I	CXXC1_ENST00000589940.1_Missense_Mutation_p.M190I|CXXC1_ENST00000412036.2_Missense_Mutation_p.M190I|CXXC1_ENST00000587396.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	190					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.M190I(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CGAACTTCTTCATGTCCCGAC	0.622																																						uc002leq.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(568-570)ATG>ATA		CXXC finger 1 (PHD domain) isoform 2							74.0	69.0	71.0					18																	47812188		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47812188C>T	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.570G>A	18.37:g.47812188C>T	ENSP00000285106:p.Met190Ile					CXXC1_uc002lep.3_Missense_Mutation_p.M47I|CXXC1_uc002ler.3_Missense_Mutation_p.M190I|CXXC1_uc010doy.2_Missense_Mutation_p.M190I|CXXC1_uc002les.2_Missense_Mutation_p.M190I	p.M190I	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN			5	1303	-			190			CXXC-type.		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.570G>A	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244235	0.59103	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.26518	1.73;1.73	4.34	4.34	0.51931	Zinc finger, CXXC-type (2);	0.000000	0.85682	D	0.000000	T	0.50786	0.1636	M	0.80982	2.52	0.58432	D	0.999993	D;P;B;B;B	0.76494	0.999;0.79;0.318;0.369;0.369	D;B;B;B;B	0.81914	0.995;0.333;0.099;0.159;0.159	T	0.50591	-0.8810	10	0.28530	T	0.3	-14.0315	14.7227	0.69320	0.0:1.0:0.0:0.0	.	190;190;190;190;57	B4DGL1;B2RC03;Q9P0U4-2;Q9P0U4;Q59EC8	.;.;.;CXXC1_HUMAN;.	I	190	ENSP00000285106:M190I;ENSP00000390475:M190I	ENSP00000285106:M190I	M	-	3	0	CXXC1	46066186	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.331000	0.79192	2.167000	0.68274	0.542000	0.68232	ATG		0.622	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		61	104	0	0	0	0	61	104				
SALL3	27164	broad.mit.edu	37	18	76754440	76754440	+	Missense_Mutation	SNP	G	G	A	rs565377995	byFrequency	TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr18:76754440G>A	ENST00000537592.2	+	2	2449	c.2449G>A	c.(2449-2451)Gac>Aac	p.D817N	SALL3_ENST00000536229.3_Missense_Mutation_p.D684N|SALL3_ENST00000575389.2_Missense_Mutation_p.D817N	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	817					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D817N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGCGGCCACCGACCCGGCCAA	0.642													G|||	4	0.000798722	0.0	0.0	5008	,	,		10585	0.0		0.0	False		,,,				2504	0.0041					uc002lmt.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(2449-2451)GAC>AAC		sal-like 3							30.0	33.0	32.0					18																	76754440		2202	4299	6501	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754440G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2449G>A	18.37:g.76754440G>A	ENSP00000441823:p.Asp817Asn					SALL3_uc010dra.2_Missense_Mutation_p.D424N	p.D817N	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	2449	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	817					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.2449G>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	7.417	0.635997	0.14386	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.09630	2.96	5.08	5.08	0.68730	.	0.093156	0.44688	D	0.000431	T	0.15955	0.0384	M	0.64567	1.98	0.80722	D	1	P;P	0.51791	0.948;0.907	B;B	0.41764	0.366;0.123	T	0.03514	-1.1029	10	0.35671	T	0.21	-50.9377	18.5057	0.90896	0.0:0.0:1.0:0.0	.	549;817	F5GXY4;Q9BXA9	.;SALL3_HUMAN	N	817;817;549	ENSP00000441823:D817N	ENSP00000299466:D817N	D	+	1	0	SALL3	74855428	1.000000	0.71417	0.080000	0.20451	0.003000	0.03518	5.352000	0.66028	2.367000	0.80283	0.561000	0.74099	GAC		0.642	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		14	12	0	0	0	0	14	12				
RBFA	79863	broad.mit.edu	37	18	77806103	77806103	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr18:77806103G>A	ENST00000306735.5	+	7	1118	c.980G>A	c.(979-981)aGa>aAa	p.R327K	RP11-795F19.5_ENST00000569722.1_Intron|RBFA_ENST00000262197.7_3'UTR|RP11-795F19.5_ENST00000564012.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	327					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GAGGCAGAGAGAGGAGGTGGC	0.582																																						uc002lns.2		NA																	0					0						c.(979-981)AGA>AAA		hypothetical protein LOC79863 precursor							65.0	55.0	58.0					18																	77806103		2203	4300	6503	SO:0001583	missense	79863				rRNA processing	mitochondrion		g.chr18:77806103G>A	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.980G>A	18.37:g.77806103G>A	ENSP00000305696:p.Arg327Lys					C18orf22_uc010drh.2_3'UTR|C18orf22_uc010dri.1_Intron|C18orf22_uc002lnt.2_Missense_Mutation_p.R160K|uc002lnu.2_5'Flank	p.R327K	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)	7	1118	+		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)	327					Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	c.980G>A	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	G	2.528	-0.309214	0.05458	.	.	ENSG00000101546	ENST00000306735	T	0.22134	1.97	3.4	-2.44	0.06502	.	6.916850	0.00531	N	0.000211	T	0.11580	0.0282	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23013	-1.0200	10	0.07990	T	0.79	.	6.7248	0.23350	0.0889:0.2489:0.5619:0.1003	.	327	Q8N0V3	RBFA_HUMAN	K	327	ENSP00000305696:R327K	ENSP00000305696:R327K	R	+	2	0	RBFA	75907091	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.776000	0.04674	-0.977000	0.03537	-0.797000	0.03246	AGA		0.582	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		3	48	0	0	0	0	3	48				
RBFA	79863	broad.mit.edu	37	18	77806105	77806105	+	Missense_Mutation	SNP	G	G	A	rs138311529		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr18:77806105G>A	ENST00000306735.5	+	7	1120	c.982G>A	c.(982-984)Gga>Aga	p.G328R	RP11-795F19.5_ENST00000569722.1_Intron|RBFA_ENST00000262197.7_3'UTR|RP11-795F19.5_ENST00000564012.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	328					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GGCAGAGAGAGGAGGTGGCAG	0.587																																						uc002lns.2		NA																	0					0						c.(982-984)GGA>AGA		hypothetical protein LOC79863 precursor							65.0	55.0	58.0					18																	77806105		2203	4300	6503	SO:0001583	missense	79863				rRNA processing	mitochondrion		g.chr18:77806105G>A	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.982G>A	18.37:g.77806105G>A	ENSP00000305696:p.Gly328Arg					C18orf22_uc010drh.2_3'UTR|C18orf22_uc010dri.1_Intron|C18orf22_uc002lnt.2_Missense_Mutation_p.G161R|uc002lnu.2_5'Flank	p.G328R	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)	7	1120	+		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)	328					Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	c.982G>A	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	G	7.571	0.666643	0.14710	.	.	ENSG00000101546	ENST00000306735	T	0.28255	1.62	3.1	-0.961	0.10337	.	0.686752	0.11953	N	0.513493	T	0.12603	0.0306	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.29150	-1.0021	10	0.15066	T	0.55	.	1.1038	0.01690	0.2139:0.3349:0.2805:0.1707	.	328	Q8N0V3	RBFA_HUMAN	R	328	ENSP00000305696:G328R	ENSP00000305696:G328R	G	+	1	0	RBFA	75907093	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.297000	0.19101	-0.231000	0.09825	-0.137000	0.14449	GGA		0.587	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		3	49	0	0	0	0	3	49				
DOT1L	84444	broad.mit.edu	37	19	2213555	2213555	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:2213555C>T	ENST00000398665.3	+	17	1611	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	525					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.L525L(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCCCAGCTCCTGGGTGCGG	0.617																																						uc002lvb.3		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(1573-1575)CTC>CTT		DOT1-like, histone H3 methyltransferase							45.0	49.0	48.0					19																	2213555		1993	4159	6152	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2213555C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1575C>T	19.37:g.2213555C>T						DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_RNA|DOT1L_uc002lve.1_5'Flank	p.L525L	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	17	1611	+		Hepatocellular(1079;0.137)	525					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.1575C>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	2.340	-0.351240	0.05173	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.76	1.33	0.21861	.	.	.	.	.	T	0.43678	0.1258	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20338	-1.0278	4	.	.	.	-16.6401	2.7734	0.05341	0.1586:0.2733:0.4378:0.1303	.	.	.	.	F	312	.	.	S	+	2	0	DOT1L	2164555	0.995000	0.38212	0.076000	0.20297	0.360000	0.29518	0.242000	0.18087	0.078000	0.16900	-0.311000	0.09066	TCC		0.617	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		24	21	0	0	0	0	24	21				
ZNF136	7695	broad.mit.edu	37	19	12296616	12296616	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:12296616A>G	ENST00000343979.4	+	2	160	c.20A>G	c.(19-21)gAg>gGg	p.E7G	ZNF136_ENST00000398616.2_Intron	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	7	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						GTGGCTTTTGAGGATGTAGAT	0.483																																						uc002mti.2		NA																	0				ovary(1)|pancreas(1)	2						c.(19-21)GAG>GGG		zinc finger protein 136							87.0	82.0	84.0					19																	12296616		2203	4300	6503	SO:0001583	missense	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12296616A>G	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.20A>G	19.37:g.12296616A>G	ENSP00000344162:p.Glu7Gly					ZNF136_uc010xmh.1_Intron	p.E7G	NM_003437	NP_003428	P52737	ZN136_HUMAN			2	120	+			7			KRAB.			Missense_Mutation	SNP	ENST00000343979.4	37	c.20A>G	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.668157	0.67814	.	.	ENSG00000196646	ENST00000343979	T	0.02216	4.39	1.22	1.22	0.21188	Krueppel-associated box (4);	.	.	.	.	T	0.09202	0.0227	M	0.81179	2.53	0.44345	D	0.997239	D	0.76494	0.999	D	0.79108	0.992	T	0.05386	-1.0888	9	0.66056	D	0.02	.	4.6331	0.12511	1.0:0.0:0.0:0.0	.	7	P52737	ZN136_HUMAN	G	7	ENSP00000344162:E7G	ENSP00000344162:E7G	E	+	2	0	ZNF136	12157616	0.895000	0.30542	0.557000	0.28306	0.941000	0.58515	3.209000	0.51122	0.813000	0.34350	0.533000	0.62120	GAG		0.483	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		3	99	0	0	0	0	3	99				
F2RL3	9002	broad.mit.edu	37	19	17001171	17001171	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:17001171C>A	ENST00000248076.3	+	2	1227	c.897C>A	c.(895-897)agC>agA	p.S299R		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	299					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)	p.S299R(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TCGTGCCCAGCAACCTGCTGC	0.701																																						uc002nfa.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(895-897)AGC>AGA		coagulation factor II (thrombin) receptor-like 3							13.0	14.0	14.0					19																	17001171		2195	4295	6490	SO:0001583	missense	9002				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	g.chr19:17001171C>A	AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.897C>A	19.37:g.17001171C>A	ENSP00000248076:p.Ser299Arg						p.S299R	NM_003950	NP_003941	Q96RI0	PAR4_HUMAN			2	1072	+			299			Helical; Name=6; (Potential).		O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	c.897C>A	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458663	0.84317	.	.	ENSG00000127533	ENST00000248076	T	0.72282	-0.64	4.15	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	D	0.82664	0.5086	M	0.83603	2.65	0.51482	D	0.999922	D	0.89917	1.0	D	0.91635	0.999	D	0.84204	0.0452	10	0.62326	D	0.03	.	10.3152	0.43732	0.0:0.9019:0.0:0.0981	.	299	Q96RI0	PAR4_HUMAN	R	299	ENSP00000248076:S299R	ENSP00000248076:S299R	S	+	3	2	F2RL3	16862171	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	3.629000	0.54266	1.869000	0.54173	0.491000	0.48974	AGC		0.701	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			9	8	1	0	0.000274275	0.000298704	9	8				
MAP1S	55201	broad.mit.edu	37	19	17845129	17845129	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:17845129C>T	ENST00000324096.4	+	7	3223	c.3072C>T	c.(3070-3072)taC>taT	p.Y1024Y	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Silent_p.Y998Y	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	1024	Necessary for association with actin. {ECO:0000250}.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.Y1024Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						ATACGTGGTACGCAGAGACGC	0.657																																						uc002nhe.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	central_nervous_system(1)	1						c.(3070-3072)TAC>TAT		BPY2 interacting protein 1							105.0	73.0	84.0					19																	17845129		2203	4300	6503	SO:0001819	synonymous_variant	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17845129C>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.3072C>T	19.37:g.17845129C>T						MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Silent_p.Y272Y|MAP1S_uc010xpv.1_Silent_p.Y998Y	p.Y1024Y	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN			7	3081	+			1024			Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	c.3072C>T	CCDS32954.1																																																																																				0.657	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		21	52	0	0	0	0	21	52				
ZNF676	163223	broad.mit.edu	37	19	22363197	22363197	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:22363197C>T	ENST00000397121.2	-	3	1639	c.1322G>A	c.(1321-1323)aGa>aAa	p.R441K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	441					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R441T(1)|p.R441K(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGCATGAATTCTCTTGTGTTC	0.438																																						uc002nqs.1		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)		0						c.(1321-1323)AGA>AAA		zinc finger protein 676							89.0	90.0	89.0					19																	22363197		2084	4236	6320	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363197C>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1322G>A	19.37:g.22363197C>T	ENSP00000380310:p.Arg441Lys						p.R441K	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1640	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	441			C2H2-type 10.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1322G>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	10.41	1.342164	0.24339	.	.	ENSG00000196109	ENST00000397121	T	0.18338	2.22	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12817	0.0311	L	0.49778	1.585	0.23198	N	0.998138	B	0.02656	0.0	B	0.04013	0.001	T	0.37957	-0.9683	9	0.20046	T	0.44	.	6.037	0.19712	0.0:0.7919:0.0:0.2081	.	441	Q8N7Q3	ZN676_HUMAN	K	441	ENSP00000380310:R441K	ENSP00000380310:R441K	R	-	2	0	ZNF676	22155037	0.000000	0.05858	0.016000	0.15963	0.016000	0.09150	-0.072000	0.11486	-1.149000	0.02843	-1.152000	0.01820	AGA		0.438	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		90	159	0	0	0	0	90	159				
ZFP14	57677	broad.mit.edu	37	19	36853022	36853022	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:36853022A>T	ENST00000270001.7	-	3	243	c.128T>A	c.(127-129)aTt>aAt	p.I43N	ZFP14_ENST00000589280.1_Missense_Mutation_p.I43N	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	43	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I43N(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					ACCTAGTGAAATGAAGTTGCT	0.378																																						uc002odx.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(127-129)ATT>AAT		zinc finger protein 14-like							114.0	107.0	110.0					19																	36853022		2203	4300	6503	SO:0001583	missense	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36853022A>T	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.128T>A	19.37:g.36853022A>T	ENSP00000270001:p.Ile43Asn					ZFP14_uc010xtd.1_Missense_Mutation_p.I43N|ZFP14_uc010eex.1_Missense_Mutation_p.I43N	p.I43N	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN			2	221	-	Esophageal squamous(110;0.162)		43			KRAB.		A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	c.128T>A	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.632100	0.29068	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.01821	4.62	4.35	3.31	0.37934	Krueppel-associated box (4);	0.995923	0.08132	N	0.993049	T	0.02848	0.0085	L	0.48986	1.54	0.32495	N	0.539671	P;P	0.34615	0.459;0.459	B;B	0.35607	0.206;0.206	T	0.25745	-1.0123	10	0.87932	D	0	.	6.8033	0.23764	0.8918:0.0:0.1082:0.0	.	43;43	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	N	43	ENSP00000270001:I43N	ENSP00000270001:I43N	I	-	2	0	ZFP14	41544862	0.365000	0.25006	0.991000	0.47740	0.511000	0.34104	0.801000	0.27055	0.793000	0.33875	0.533000	0.62120	ATT		0.378	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		48	73	0	0	0	0	48	73				
ZNF569	148266	broad.mit.edu	37	19	37903739	37903739	+	Silent	SNP	T	T	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:37903739T>C	ENST00000316950.6	-	6	2378	c.1821A>G	c.(1819-1821)gaA>gaG	p.E607E	ZNF569_ENST00000392149.2_Silent_p.E607E|ZNF569_ENST00000392150.2_Silent_p.E448E	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	607					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E607E(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTTATTACATTCATAGGGTT	0.413																																						uc002ogi.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	breast(2)|skin(1)	3						c.(1819-1821)GAA>GAG		zinc finger protein 569							113.0	111.0	112.0					19																	37903739		2203	4300	6503	SO:0001819	synonymous_variant	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37903739T>C	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1821A>G	19.37:g.37903739T>C						ZNF569_uc002ogh.2_Silent_p.E448E|ZNF569_uc002ogj.2_Silent_p.E631E	p.E607E	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	2379	-			607			C2H2-type 16.		A8K1S2|Q15925|Q17RR6|Q96MQ2	Silent	SNP	ENST00000316950.6	37	c.1821A>G	CCDS12503.1																																																																																				0.413	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		83	149	0	0	0	0	83	149				
LGALS4	3960	broad.mit.edu	37	19	39297125	39297125	+	Silent	SNP	G	G	A	rs367810941		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:39297125G>A	ENST00000307751.4	-	4	927	c.450C>T	c.(448-450)atC>atT	p.I150I	LGALS4_ENST00000597803.1_5'UTR	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	150	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCTGGCCTCCGATGAAGTTGA	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16123	0.0		0.0	False		,,,				2504	0.0					uc002ojg.2		NA																	0				ovary(1)|skin(1)	2						c.(448-450)ATC>ATT		galectin-4		G		1,4405	2.1+/-5.4	0,1,2202	75.0	80.0	79.0		450	-10.3	0.4	19		79	0,8600		0,0,4300	no	coding-synonymous	LGALS4	NM_006149.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		150/324	39297125	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39297125G>A		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.450C>T	19.37:g.39297125G>A						LGALS4_uc010xuj.1_Silent_p.I150I	p.I150I	NM_006149	NP_006140	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		4	664	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		150			Galectin 1.			Silent	SNP	ENST00000307751.4	37	c.450C>T	CCDS12521.1																																																																																				0.498	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		7	137	0	0	0	0	7	137				
PSG7	5676	broad.mit.edu	37	19	43439678	43439678	+	RNA	SNP	G	G	C	rs372868509		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:43439678G>C	ENST00000406070.2	-	0	404				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GGATGCATTGGAATATACTGT	0.428																																						uc002ovl.3		NA																	0					0						c.(307-309)TCC>TGC		pregnancy specific beta-1-glycoprotein 7							344.0	331.0	335.0					19																	43439678		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43439678G>C			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439678G>C						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron	p.S103C	NM_002783	NP_002774	Q13046	PSG7_HUMAN			3	410	-		Prostate(69;0.00682)	103			Ig-like V-type.		Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.308C>G																																																																																					0.428	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		6	611	0	0	0	0	6	611				
QPCTL	54814	broad.mit.edu	37	19	46206184	46206184	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:46206184C>T	ENST00000012049.5	+	7	1247	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	QPCTL_ENST00000366382.4_Silent_p.I248I	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	342					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		TCCATCTCATCTCCACGCCCT	0.597																																						uc010xxr.1		NA																	0				skin(1)	1						c.(1024-1026)ATC>ATT		glutaminyl-peptide cyclotransferase-like isoform							184.0	172.0	176.0					19																	46206184		2203	4300	6503	SO:0001819	synonymous_variant	54814				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding	g.chr19:46206184C>T	AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"""glutaminyl cyclase-like"""						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.1026C>T	19.37:g.46206184C>T						QPCTL_uc010ekn.2_Silent_p.I248I	p.I342I	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)	7	1247	+		Ovarian(192;0.051)|all_neural(266;0.112)	342					Q53HE4|Q96F74	Silent	SNP	ENST00000012049.5	37	c.1026C>T	CCDS12672.1																																																																																				0.597	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459656.1	NM_017659		30	226	0	0	0	0	30	226				
ZNF468	90333	broad.mit.edu	37	19	53344519	53344519	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:53344519G>C	ENST00000595646.1	-	4	1148	c.1028C>G	c.(1027-1029)gCa>gGa	p.A343G	ZNF468_ENST00000396409.4_Missense_Mutation_p.A290G|ZNF468_ENST00000390651.4_Missense_Mutation_p.A290G|ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		AGTATGTTTTGCCAGATATGA	0.378																																						uc002qaf.2		NA																	0				ovary(2)	2						c.(1027-1029)GCA>GGA		zinc finger protein ZNF468 isoform 2							120.0	124.0	123.0					19																	53344519		2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53344519G>C	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1028C>G	19.37:g.53344519G>C	ENSP00000470381:p.Ala343Gly					ZNF468_uc002qae.2_Missense_Mutation_p.A290G	p.A343G	NM_001008801	NP_001008801	Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	1179	-			343			C2H2-type 5.		A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.1028C>G	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	-	4.863	0.160384	0.09287	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651;ENST00000393865	T;T	0.08102	3.13;3.13	1.99	-3.98	0.04082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05686	0.0149	L	0.35341	1.055	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35226	-0.9797	9	0.54805	T	0.06	.	4.726	0.12941	0.3155:0.1543:0.5302:0.0	.	343	Q5VIY5	ZN468_HUMAN	G	343;290;290;93	ENSP00000379690:A290G;ENSP00000445669:A290G	ENSP00000243639:A343G	A	-	2	0	ZNF468	58036331	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.021000	0.13489	-1.532000	0.01747	-0.471000	0.05019	GCA		0.378	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		5	210	0	0	0	0	5	210				
LILRA3	11026	broad.mit.edu	37	19	54803659	54803659	+	Silent	SNP	C	C	T	rs138979811	byFrequency	TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:54803659C>T	ENST00000251390.3	-	3	256	c.165G>A	c.(163-165)acG>acA	p.T55T	LILRA3_ENST00000391744.3_Silent_p.T55T|LILRA3_ENST00000391745.1_Silent_p.T72T	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	55	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTACTCCTGCGTCTCCAGGC	0.567																																						uc002qfd.2		NA																	0				ovary(1)	1						c.(163-165)ACG>ACA		leukocyte immunoglobulin-like receptor,							112.0	96.0	101.0					19																	54803659		2193	4159	6352	SO:0001819	synonymous_variant	11026				defense response	extracellular region|plasma membrane	antigen binding|receptor activity	g.chr19:54803659C>T	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.165G>A	19.37:g.54803659C>T						LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Silent_p.T55T	p.T55T	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	230	-	Ovarian(34;0.19)		55			Ig-like C2-type 1.		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Silent	SNP	ENST00000251390.3	37	c.165G>A	CCDS12887.1																																																																																				0.567	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			11	97	0	0	0	0	11	97				
NLRP2	55655	broad.mit.edu	37	19	55494891	55494891	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:55494891C>T	ENST00000543010.1	+	6	1968	c.1825C>T	c.(1825-1827)Ctg>Ttg	p.L609L	NLRP2_ENST00000427260.2_Silent_p.L586L|NLRP2_ENST00000448584.2_Silent_p.L609L|NLRP2_ENST00000537859.1_Silent_p.L587L|NLRP2_ENST00000391721.4_Silent_p.L585L|NLRP2_ENST00000339757.7_Silent_p.L587L|NLRP2_ENST00000263437.6_Silent_p.L606L|NLRP2_ENST00000538819.1_Silent_p.L585L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	609					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CCTCGGCTGTCTGTACGAGTC	0.507																																						uc002qij.2		NA																	0				ovary(1)|skin(1)	2						c.(1825-1827)CTG>TTG		NLR family, pyrin domain containing 2							95.0	79.0	85.0					19																	55494891		2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494891C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1825C>T	19.37:g.55494891C>T						NLRP2_uc010yfp.1_Silent_p.L586L|NLRP2_uc010esn.2_Silent_p.L585L|NLRP2_uc010eso.2_Silent_p.L606L|NLRP2_uc010esp.2_Silent_p.L587L	p.L609L	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1911	+			609					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.1825C>T	CCDS12913.1																																																																																				0.507	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		3	33	0	0	0	0	3	33				
ZNF471	57573	broad.mit.edu	37	19	57037187	57037187	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:57037187C>T	ENST00000308031.5	+	5	1884	c.1751C>T	c.(1750-1752)tCa>tTa	p.S584L	ZNF471_ENST00000593197.1_3'UTR|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	584					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AGTGATAGCTCATCCTGTGCT	0.413																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	uc002qnh.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1750-1752)TCA>TTA		zinc finger protein 471							78.0	74.0	75.0					19																	57037187		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57037187C>T	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1751C>T	19.37:g.57037187C>T	ENSP00000309161:p.Ser584Leu						p.S584L	NM_020813	NP_065864	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1884	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	584			C2H2-type 14.		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.1751C>T	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358488	0.24598	.	.	ENSG00000196263	ENST00000308031	T	0.01705	4.68	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	M	0.84683	2.71	0.30556	N	0.764997	P	0.39480	0.675	B	0.25140	0.058	T	0.05084	-1.0907	9	0.62326	D	0.03	.	14.8082	0.69974	0.0:1.0:0.0:0.0	.	584	Q9BX82	ZN471_HUMAN	L	584	ENSP00000309161:S584L	ENSP00000309161:S584L	S	+	2	0	ZNF471	61728999	0.043000	0.20138	0.096000	0.21009	0.586000	0.36452	2.372000	0.44257	2.005000	0.58758	0.462000	0.41574	TCA		0.413	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		16	105	0	0	0	0	16	105				
ZSCAN4	201516	broad.mit.edu	37	19	58189827	58189827	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:58189827G>T	ENST00000318203.5	+	5	1553	c.856G>T	c.(856-858)Gcc>Tcc	p.A286S		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	286					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCTGAGTCTGCCCTTACCCA	0.483																																						uc002qpu.2		NA																	0				ovary(1)	1						c.(856-858)GCC>TCC		zinc finger and SCAN domain containing 4							105.0	96.0	99.0					19																	58189827		2203	4300	6503	SO:0001583	missense	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58189827G>T	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.856G>T	19.37:g.58189827G>T	ENSP00000321963:p.Ala286Ser						p.A286S	NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1553	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	286					Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.856G>T	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	G	6.816	0.519632	0.13005	.	.	ENSG00000180532	ENST00000318203	T	0.06933	3.24	3.37	2.34	0.29019	.	1.228570	0.05982	N	0.644426	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.21309	0.054	B	0.15870	0.014	T	0.41161	-0.9524	10	0.09338	T	0.73	0.012	5.3556	0.16059	0.2513:0.0:0.7487:0.0	.	286	Q8NAM6	ZSCA4_HUMAN	S	286	ENSP00000321963:A286S	ENSP00000321963:A286S	A	+	1	0	ZSCAN4	62881639	0.008000	0.16893	0.002000	0.10522	0.002000	0.02628	1.883000	0.39658	1.002000	0.39104	0.655000	0.94253	GCC		0.483	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		6	145	1	0	0.00116845	0.00125725	6	145				
ZNF544	27300	broad.mit.edu	37	19	58772699	58772699	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:58772699G>A	ENST00000596652.1	+	6	961	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.E215K|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.E215K|ZNF544_ENST00000269829.4_Missense_Mutation_p.E243K|ZNF544_ENST00000599953.1_Missense_Mutation_p.E101K|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.E215K			Q6NX49	ZN544_HUMAN	zinc finger protein 544	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AAACCCTTATGAATATATTGT	0.388																																						uc010euo.2		NA																	0				pancreas(1)	1						c.(727-729)GAA>AAA		zinc finger protein 544							82.0	86.0	85.0					19																	58772699		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58772699G>A	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.727G>A	19.37:g.58772699G>A	ENSP00000469635:p.Glu243Lys					ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.E215K|ZNF544_uc010yhy.1_Missense_Mutation_p.E215K|ZNF544_uc002qrt.3_Missense_Mutation_p.E101K|ZNF544_uc002qru.3_Missense_Mutation_p.E101K|uc002qrx.1_Intron	p.E243K	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	1201	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	243					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.727G>A	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524464	0.27299	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.06449	3.35;3.3	3.53	1.39	0.22231	.	.	.	.	.	T	0.03783	0.0107	N	0.25825	0.765	0.09310	N	0.999999	B;B;B	0.29716	0.068;0.137;0.255	B;B;B	0.26094	0.021;0.017;0.066	T	0.42783	-0.9431	9	0.08179	T	0.78	.	6.9947	0.24777	0.2437:0.0:0.7563:0.0	.	215;215;243	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	K	243;215	ENSP00000269829:E243K;ENSP00000394341:E215K	ENSP00000269829:E243K	E	+	1	0	ZNF544	63464511	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.819000	0.04462	0.811000	0.34303	0.655000	0.94253	GAA		0.388	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		9	207	0	0	0	0	9	207				
SLC3A1	6519	broad.mit.edu	37	2	44547602	44547602	+	Missense_Mutation	SNP	G	G	A	rs146303355		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:44547602G>A	ENST00000260649.6	+	10	1958	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N	PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.D350N|SLC3A1_ENST00000409740.3_Missense_Mutation_p.D259N	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	628					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CAATTCTGCCGACAAAGGCAG	0.413																																						uc002ruc.3		NA																	0					0						c.(1882-1884)GAC>AAC		solute carrier family 3, member 1	L-Cystine(DB00138)	G	ASN/ASP,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	96.0	87.0	90.0		1882,,,,,,,	-12.0	0.0	2	dbSNP_134	90	0,8600		0,0,4300	yes	missense,utr-3,utr-3,utr-3,utr-3,utr-3,utr-3,utr-3	SLC3A1,PREPL	NM_000341.3,NM_001042385.2,NM_001042386.2,NM_001171603.1,NM_001171606.1,NM_001171613.1,NM_001171617.1,NM_006036.4	23,,,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,,,,,,,	628/686,,,,,,,	44547602	1,13005	2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44547602G>A		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1882G>A	2.37:g.44547602G>A	ENSP00000260649:p.Asp628Asn					PREPL_uc002ruf.2_3'UTR|PREPL_uc002rug.2_3'UTR|PREPL_uc002ruh.2_3'UTR|PREPL_uc010fax.2_3'UTR|PREPL_uc002rui.3_3'UTR|PREPL_uc002ruj.1_3'UTR|PREPL_uc002ruk.1_3'UTR|SLC3A1_uc002rud.3_Missense_Mutation_p.D350N|SLC3A1_uc002rue.3_Missense_Mutation_p.D248N	p.D628N	NM_000341	NP_000332	Q07837	SLC31_HUMAN			10	1960	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	628			Extracellular (Potential).		A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.1882G>A	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	g	4.685	0.127338	0.08981	2.27E-4	0.0	ENSG00000138079	ENST00000260649;ENST00000540334;ENST00000409380;ENST00000409740	D;D;D	0.99042	-5.36;-4.79;-4.44	5.99	-12.0	0.00017	.	1.789750	0.02568	N	0.097528	D	0.92564	0.7638	N	0.04018	-0.295	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.87721	0.2573	10	0.10902	T	0.67	3.6675	5.4977	0.16811	0.6042:0.1156:0.1899:0.0903	.	628	Q07837	SLC31_HUMAN	N	628;564;350;259	ENSP00000260649:D628N;ENSP00000386709:D350N;ENSP00000386677:D259N	ENSP00000260649:D628N	D	+	1	0	SLC3A1	44401106	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.089000	0.11180	-2.675000	0.00411	-1.814000	0.00607	GAC		0.413	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		4	131	0	0	0	0	4	131				
EPAS1	2034	broad.mit.edu	37	2	46583923	46583923	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:46583923C>T	ENST00000263734.3	+	4	940	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	144	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.R144C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGAGGAGATTCGTGAGAACCT	0.448																																						uc002ruv.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|skin(1)	2						c.(430-432)CGT>TGT		endothelial PAS domain protein 1							143.0	137.0	139.0					2																	46583923		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46583923C>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.430C>T	2.37:g.46583923C>T	ENSP00000263734:p.Arg144Cys						p.R144C	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		4	918	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	144			PAS 1.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.430C>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.855124	0.71719	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	T;T	0.19938	2.11;2.11	5.21	5.21	0.72293	PAS (3);PAS fold (1);	0.164029	0.51477	D	0.000087	T	0.55000	0.1893	M	0.92367	3.3	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.64563	-0.6378	10	0.87932	D	0	.	13.2767	0.60191	0.2735:0.7265:0.0:0.0	.	144	Q99814	EPAS1_HUMAN	C	144	ENSP00000406137:R144C;ENSP00000263734:R144C	ENSP00000263734:R144C	R	+	1	0	EPAS1	46437427	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.295000	0.33377	2.710000	0.92621	0.561000	0.74099	CGT		0.448	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		46	63	0	0	0	0	46	63				
USP34	9736	broad.mit.edu	37	2	61597495	61597495	+	Silent	SNP	C	C	T	rs370989441		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:61597495C>T	ENST00000398571.2	-	10	1288	c.1212G>A	c.(1210-1212)ctG>ctA	p.L404L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	404					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTTGAGTACTCAGTCGCCCTT	0.338																																						uc002sbe.2		NA																	0				ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(1210-1212)CTG>CTA		ubiquitin specific protease 34		C		0,3748		0,0,1874	121.0	113.0	115.0		1212	-3.2	1.0	2		115	2,8222		0,2,4110	no	coding-synonymous	USP34	NM_014709.3		0,2,5984	TT,TC,CC		0.0243,0.0,0.0167		404/3547	61597495	2,11970	1874	4112	5986	SO:0001819	synonymous_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61597495C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1212G>A	2.37:g.61597495C>T							p.L404L	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		10	1234	-			404					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.1212G>A	CCDS42686.1																																																																																				0.338	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			6	198	0	0	0	0	6	198				
ACTG2	72	broad.mit.edu	37	2	74129548	74129548	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:74129548G>T	ENST00000409624.1	+	4	831	c.188G>T	c.(187-189)cGa>cTa	p.R63L	ACTG2_ENST00000345517.3_Missense_Mutation_p.R63L|ACTG2_ENST00000409731.3_Intron|ACTG2_ENST00000409918.1_Missense_Mutation_p.R63L			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	63			R -> G (in VSCM). {ECO:0000269|PubMed:24676022}.		muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						CAGAGCAAGCGAGGGATCCTA	0.483																																						uc002sjw.2		NA																	0					0						c.(187-189)CGA>CTA		actin, gamma 2 propeptide							154.0	131.0	139.0					2																	74129548		2203	4300	6503	SO:0001583	missense	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74129548G>T		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.188G>T	2.37:g.74129548G>T	ENSP00000386857:p.Arg63Leu					ACTG2_uc010fex.1_Missense_Mutation_p.R63L|ACTG2_uc010fey.2_Missense_Mutation_p.R63L|ACTG2_uc010yrn.1_Intron	p.R63L	NM_001615	NP_001606	P63267	ACTH_HUMAN			3	310	+			63					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	37	c.188G>T	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408751	0.42715	.	.	ENSG00000163017	ENST00000345517;ENST00000409918;ENST00000442912;ENST00000409624	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	3.84	3.84	0.44239	Actin, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.96842	0.8969	H	0.97265	3.97	0.44142	D	0.996934	P;D	0.61697	0.941;0.99	P;D	0.71414	0.81;0.973	D	0.98198	1.0466	10	0.87932	D	0	.	15.0246	0.71659	0.0:0.0:1.0:0.0	.	63;63	B8ZZJ2;P63267	.;ACTH_HUMAN	L	63	ENSP00000295137:R63L;ENSP00000387182:R63L;ENSP00000410020:R63L;ENSP00000386857:R63L	ENSP00000295137:R63L	R	+	2	0	ACTG2	73983056	1.000000	0.71417	0.990000	0.47175	0.090000	0.18270	9.569000	0.98170	2.147000	0.66899	0.563000	0.77884	CGA		0.483	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		30	46	1	0	2.44e-19	2.88e-19	30	46				
TUBA3D	113457	broad.mit.edu	37	2	132235898	132235898	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:132235898G>C	ENST00000321253.6	+	2	272	c.165G>C	c.(163-165)gaG>gaC	p.E55D		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	55					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E55D(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TCTTCAGTGAGACTGGAGCTG	0.557																																					Ovarian(137;2059 2432 35543 39401)	uc002tsu.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(163-165)GAG>GAC		tubulin, alpha 3d							60.0	53.0	56.0					2																	132235898		2203	4297	6500	SO:0001583	missense	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132235898G>C	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.165G>C	2.37:g.132235898G>C	ENSP00000326042:p.Glu55Asp						p.E55D	NM_080386	NP_525125	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	272	+			55					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	c.165G>C	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	5.707	0.314902	0.10789	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.71461	-0.57	2.47	2.47	0.30058	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.46758	U	0.000280	T	0.71264	0.3319	M	0.84585	2.705	0.39646	D	0.970391	B	0.02656	0.0	B	0.14023	0.01	T	0.75190	-0.3405	10	0.87932	D	0	.	10.6576	0.45684	0.0:0.0:1.0:0.0	.	55	Q13748	TBA3C_HUMAN	D	55	ENSP00000326042:E55D	ENSP00000326042:E55D	E	+	3	2	TUBA3D	131952368	1.000000	0.71417	0.998000	0.56505	0.294000	0.27393	4.517000	0.60503	1.376000	0.46267	0.194000	0.17425	GAG		0.557	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		18	58	0	0	0	0	18	58				
SCN3A	6328	broad.mit.edu	37	2	165986673	165986673	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:165986673C>T	ENST00000360093.3	-	17	3190	c.2699G>A	c.(2698-2700)gGc>gAc	p.G900D	SCN3A_ENST00000283254.7_Missense_Mutation_p.G900D|SCN3A_ENST00000409101.3_Missense_Mutation_p.G851D	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	900					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAGCTGCATGCCGACCACAGC	0.463																																						uc002ucx.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(2698-2700)GGC>GAC		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						143.0	140.0	141.0					2																	165986673		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165986673C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2699G>A	2.37:g.165986673C>T	ENSP00000353206:p.Gly900Asp					SCN3A_uc002ucy.2_Missense_Mutation_p.G851D|SCN3A_uc002ucz.2_Missense_Mutation_p.G851D|SCN3A_uc002uda.1_Missense_Mutation_p.G720D|SCN3A_uc002udb.1_Missense_Mutation_p.G720D	p.G900D	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			17	3191	-			900			Helical; Name=S5 of repeat II; (Potential).		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.2699G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.145029	0.94603	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.64402	D	0.000014	D	0.99456	0.9807	H	0.99705	4.715	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;1.0	D	0.97903	1.0304	10	0.87932	D	0	.	19.353	0.94398	0.0:1.0:0.0:0.0	.	900;851;851;851;900	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	D	900;900;851;851	ENSP00000353206:G900D;ENSP00000283254:G900D;ENSP00000386726:G851D;ENSP00000403348:G851D	ENSP00000283254:G900D	G	-	2	0	SCN3A	165694919	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.571000	0.86741	0.563000	0.77884	GGC		0.463	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		4	272	0	0	0	0	4	272				
DNAH7	56171	broad.mit.edu	37	2	196673458	196673458	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:196673458C>T	ENST00000312428.6	-	53	10131	c.10031G>A	c.(10030-10032)cGt>cAt	p.R3344H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3344					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAACTCTCTACGAATGGTTTT	0.373																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(10030-10032)CGT>CAT		dynein, axonemal, heavy chain 7							156.0	143.0	147.0					2																	196673458		1853	4096	5949	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196673458C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10031G>A	2.37:g.196673458C>T	ENSP00000311273:p.Arg3344His						p.R3344H	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			53	10132	-			3344					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.10031G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793059	0.50102	.	.	ENSG00000118997	ENST00000312428	T	0.08807	3.05	5.65	5.65	0.86999	Dynein heavy chain (1);	1.909060	0.02889	N	0.133938	T	0.40570	0.1122	M	0.85710	2.77	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.14420	-1.0473	10	0.25106	T	0.35	.	19.3096	0.94182	0.0:1.0:0.0:0.0	.	3344	Q8WXX0	DYH7_HUMAN	H	3344	ENSP00000311273:R3344H	ENSP00000311273:R3344H	R	-	2	0	DNAH7	196381703	1.000000	0.71417	0.845000	0.33349	0.722000	0.41435	4.989000	0.63870	2.655000	0.90218	0.563000	0.77884	CGT		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	163	0	0	0	0	4	163				
TUBA4A	7277	broad.mit.edu	37	2	220116386	220116386	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:220116386G>A	ENST00000248437.4	-	3	449	c.276C>T	c.(274-276)ctC>ctT	p.L92L	TUBA4A_ENST00000392088.2_Silent_p.L77L|TUBA4A_ENST00000498660.1_5'UTR|TUBA4B_ENST00000490341.1_RNA	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	92					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	TCCCAGTGATGAGCTGCTCTG	0.547																																						uc002vkt.1		NA																	0				ovary(3)	3						c.(274-276)CTC>CTT		tubulin, alpha 4a							104.0	92.0	96.0					2																	220116386		2203	4300	6503	SO:0001819	synonymous_variant	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220116386G>A	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.276C>T	2.37:g.220116386G>A						TUBA4A_uc010zkz.1_Silent_p.L77L|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank	p.L92L	NM_006000	NP_005991	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	334	-		Renal(207;0.0474)	92					A8MUB1|B3KNQ6|P05215	Silent	SNP	ENST00000248437.4	37	c.276C>T	CCDS2438.1																																																																																				0.547	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		12	68	0	0	0	0	12	68				
SPEG	10290	broad.mit.edu	37	2	220338272	220338272	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:220338272C>T	ENST00000312358.7	+	17	4326	c.4194C>T	c.(4192-4194)atC>atT	p.I1398I	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1398	Ig-like 7.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I1398I(1)|p.I1398M(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AACCAGACATCGTGTATGTGG	0.627																																						uc010fwg.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|endometrium(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(4192-4194)ATC>ATT		SPEG complex locus							118.0	126.0	123.0					2																	220338272		2063	4180	6243	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220338272C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4194C>T	2.37:g.220338272C>T							p.I1398I	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	17	4194	+		Renal(207;0.0183)	1398			Ig-like 7.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.4194C>T	CCDS42824.1																																																																																				0.627	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		21	202	0	0	0	0	21	202				
SLC4A3	6508	broad.mit.edu	37	2	220501431	220501431	+	Silent	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:220501431C>G	ENST00000358055.3	+	16	2882	c.2370C>G	c.(2368-2370)ctC>ctG	p.L790L	SLC4A3_ENST00000273063.6_Silent_p.L817L|SLC4A3_ENST00000373762.3_Silent_p.L817L|SLC4A3_ENST00000317151.3_Silent_p.L790L|SLC4A3_ENST00000373760.2_Silent_p.L790L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	790	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGAGTACCTCACTGGCCGGG	0.642																																						uc002vmp.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(2368-2370)CTC>CTG		solute carrier family 4, anion exchanger, member							137.0	124.0	129.0					2																	220501431		2203	4300	6503	SO:0001819	synonymous_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220501431C>G		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2370C>G	2.37:g.220501431C>G						SLC4A3_uc002vmo.3_Silent_p.L817L|SLC4A3_uc010fwm.2_Silent_p.L340L|SLC4A3_uc010fwn.1_Silent_p.L299L	p.L790L	NM_005070	NP_005061	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	2639	+		Renal(207;0.0183)	790			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	c.2370C>G	CCDS2445.1																																																																																				0.642	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		4	144	0	0	0	0	4	144				
FARSB	10056	broad.mit.edu	37	2	223499180	223499180	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:223499180G>A	ENST00000281828.6	-	6	799	c.536C>T	c.(535-537)tCa>tTa	p.S179L	FARSB_ENST00000536361.1_Missense_Mutation_p.S80L	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	179					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TTTGATATCTGAAGGACGCTT	0.398																																						uc002vne.1		NA																	0				ovary(1)	1						c.(535-537)TCA>TTA		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						96.0	94.0	95.0					2																	223499180		2203	4300	6503	SO:0001583	missense	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223499180G>A	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.536C>T	2.37:g.223499180G>A	ENSP00000281828:p.Ser179Leu					FARSB_uc010zlq.1_Missense_Mutation_p.S199L|FARSB_uc002vnf.1_Missense_Mutation_p.S80L	p.S179L	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	6	571	-		Renal(207;0.0183)	179					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	c.536C>T	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171812	0.57584	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.28895	1.59;1.59	5.24	5.24	0.73138	B3/B4 tRNA-binding domain (2);	0.196582	0.42548	D	0.000688	T	0.34687	0.0906	L	0.53249	1.67	0.46078	D	0.998856	B;B	0.22080	0.064;0.059	B;B	0.22880	0.042;0.028	T	0.12142	-1.0559	10	0.52906	T	0.07	-4.5878	18.805	0.92034	0.0:0.0:1.0:0.0	.	179;179	A8K666;Q9NSD9	.;SYFB_HUMAN	L	179;80	ENSP00000281828:S179L;ENSP00000442950:S80L	ENSP00000281828:S179L	S	-	2	0	FARSB	223207424	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.906000	0.56340	2.441000	0.82636	0.591000	0.81541	TCA		0.398	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		4	84	0	0	0	0	4	84				
RALGAPB	57148	broad.mit.edu	37	20	37150172	37150172	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr20:37150172C>T	ENST00000262879.6	+	10	1734	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	RALGAPB_ENST00000397042.3_Missense_Mutation_p.R484W|RALGAPB_ENST00000537204.1_Intron|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R484W|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R262W			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	484					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GGAGTTTCGACGGAAAGGGTC	0.453																																						uc002xiw.2		NA																	0				pancreas(1)|skin(1)	2						c.(1450-1452)CGG>TGG		Ral GTPase activating protein, beta subunit							155.0	131.0	139.0					20																	37150172		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37150172C>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1450C>T	20.37:g.37150172C>T	ENSP00000262879:p.Arg484Trp					RALGAPB_uc010zvz.1_Intron|RALGAPB_uc002xix.2_Missense_Mutation_p.R484W|RALGAPB_uc002xiy.1_Missense_Mutation_p.R484W|RALGAPB_uc002xiz.2_Missense_Mutation_p.R262W|RALGAPB_uc002xja.1_Missense_Mutation_p.R211W	p.R484W	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			10	1707	+			484					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.1450C>T	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572194	0.45798	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.62	5.62	0.85841	.	0.049758	0.85682	D	0.000000	T	0.77890	0.4198	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.988;0.992;0.992;0.992	T	0.78130	-0.2324	9	0.72032	D	0.01	.	20.031	0.97536	0.0:1.0:0.0:0.0	.	312;484;484;484	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	W	484;484;484;262;484;312	.	ENSP00000262879:R484W	R	+	1	2	RALGAPB	36583586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.560000	0.60802	2.826000	0.97356	0.561000	0.74099	CGG		0.453	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		5	238	0	0	0	0	5	238				
MYT1	4661	broad.mit.edu	37	20	62839236	62839236	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr20:62839236C>T	ENST00000328439.1	+	7	1051	c.687C>T	c.(685-687)acC>acT	p.T229T	MYT1_ENST00000536311.1_Silent_p.T229T|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.T229T(1)		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)					AAGTCACCACCGAGCGCTCCC	0.622																																					GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(685-687)ACC>ACT		myelin transcription factor 1							35.0	37.0	37.0					20																	62839236		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839236C>T	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.687C>T	20.37:g.62839236C>T						MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_5'UTR	p.T229T	NM_004535	NP_004526	Q01538	MYT1_HUMAN			7	1051	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		229			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.687C>T	CCDS13558.1																																																																																				0.622	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		11	77	0	0	0	0	11	77				
PAXBP1	94104	broad.mit.edu	37	21	34116017	34116017	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr21:34116017C>T	ENST00000331923.4	-	14	2428	c.2239G>A	c.(2239-2241)Gat>Aat	p.D747N	PAXBP1_ENST00000290178.4_Missense_Mutation_p.D747N|PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	747					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D747N(1)									ATAAATACATCATCATCTAAA	0.289																																						uc002yqn.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(2239-2241)GAT>AAT		GC-rich sequence DNA-binding factor candidate							86.0	83.0	84.0					21																	34116017		2200	4291	6491	SO:0001583	missense	94104					cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:34116017C>T	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2239G>A	21.37:g.34116017C>T	ENSP00000328992:p.Asp747Asn					GCFC1_uc002yql.2_Missense_Mutation_p.D256N|GCFC1_uc002yqm.2_Missense_Mutation_p.D241N|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.D747N	p.D747N	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN			14	2429	-			747					D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.2239G>A	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	C	34	5.381209	0.95945	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.48201	0.82;0.82	6.06	6.06	0.98353	GC-rich sequence DNA-binding factor domain (1);	0.000000	0.85682	D	0.000000	T	0.71896	0.3394	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.994	T	0.70241	-0.4926	10	0.49607	T	0.09	-28.8038	20.2348	0.98355	0.0:1.0:0.0:0.0	.	747;747;256	Q9Y5B6-2;Q9Y5B6;B3KSC0	.;GCFC1_HUMAN;.	N	747	ENSP00000328992:D747N;ENSP00000290178:D747N	ENSP00000290178:D747N	D	-	1	0	GCFC1	33037888	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.948000	0.75965	2.880000	0.98712	0.650000	0.86243	GAT		0.289	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		11	24	0	0	0	0	11	24				
KRTAP12-4	386684	broad.mit.edu	37	21	46074247	46074247	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr21:46074247G>A	ENST00000391618.1	-	1	329	c.285C>T	c.(283-285)ttC>ttT	p.F95F	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	95	15 X 5 AA approximate repeats.					keratin filament (GO:0045095)				lung(4)|ovary(1)|prostate(1)	6						GGGTGGGGCAGAAGGGCTGGC	0.632																																						uc002zfs.1		NA																	0				ovary(1)	1						c.(283-285)TTC>TTT		keratin associated protein 12-4							37.0	45.0	42.0					21																	46074247		2130	4249	6379	SO:0001819	synonymous_variant	386684					keratin filament		g.chr21:46074247G>A	AB076360	CCDS42963.1	21q22.3	2006-03-13			ENSG00000212933	ENSG00000212933		"""Keratin associated proteins"""	20532	protein-coding gene	gene with protein product							Standard	NM_198698		Approved	KRTAP12.4	uc002zfs.1	P60329	OTTHUMG00000057633	ENST00000391618.1:c.285C>T	21.37:g.46074247G>A						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.F95F	NM_198698	NP_941971	P60329	KR124_HUMAN			1	330	-			95			15 X 5 AA approximate repeats.|14.		Q08AF5	Silent	SNP	ENST00000391618.1	37	c.285C>T	CCDS42963.1																																																																																				0.632	KRTAP12-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128036.1			4	100	0	0	0	0	4	100				
POFUT2	23275	broad.mit.edu	37	21	46702265	46702265	+	Splice_Site	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr21:46702265G>A	ENST00000349485.5	-	4	663	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	POFUT2_ENST00000331343.7_Splice_Site_p.R213W|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	213					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)	p.R213W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GGCACTCACCGGGCTGATGTG	0.667																																						uc002zhc.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(637-639)CGG>TGG		protein O-fucosyltransferase 2 isoform C							43.0	46.0	45.0					21																	46702265		2203	4300	6503	SO:0001630	splice_region_variant	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46702265G>A	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.638+1C>T	21.37:g.46702265G>A						POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Missense_Mutation_p.R213W|POFUT2_uc011afp.1_Missense_Mutation_p.R213W	p.R213W	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	4	662	-			213					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Missense_Mutation	SNP	ENST00000349485.5	37	c.637C>T	CCDS13719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.56|15.56	2.871076|2.871076	0.51695|0.51695	.|.	.|.	ENSG00000186866|ENSG00000186866	ENST00000451615|ENST00000331343;ENST00000349485	.|T;T	.|0.32988	.|1.43;1.43	4.57|4.57	3.67|3.67	0.42095|0.42095	.|.	.|0.237871	.|0.39544	.|N	.|0.001338	T|T	0.51483|0.51483	0.1677|0.1677	M|M	0.74467|0.74467	2.265|2.265	0.51767|0.51767	D|D	0.999938|0.999938	.|D;D	.|0.89917	.|1.0;1.0	.|P;D	.|0.69824	.|0.899;0.966	T|T	0.54153|0.54153	-0.8336|-0.8336	5|10	.|0.87932	.|D	.|0	-20.9815|-20.9815	10.1137|10.1137	0.42579|0.42579	0.0:0.0:0.6363:0.3637|0.0:0.0:0.6363:0.3637	.|.	.|213;213	.|Q9Y2G5-1;Q9Y2G5	.|.;OFUT2_HUMAN	L|W	135|213	.|ENSP00000329682:R213W;ENSP00000339613:R213W	.|ENSP00000329682:R213W	P|R	-|-	2|1	0|2	POFUT2|POFUT2	45526693|45526693	0.981000|0.981000	0.34729|0.34729	0.862000|0.862000	0.33874|0.33874	0.158000|0.158000	0.22134|0.22134	1.830000|1.830000	0.39131|0.39131	1.024000|1.024000	0.39682|0.39682	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.667	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227	Missense_Mutation	41	51	0	0	0	0	41	51				
PCNT	5116	broad.mit.edu	37	21	47783638	47783638	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr21:47783638C>G	ENST00000359568.5	+	14	2505	c.2398C>G	c.(2398-2400)Cag>Gag	p.Q800E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	800					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAGGCAGCTTCAGGACCAACA	0.522																																						uc002zji.3		NA																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(2398-2400)CAG>GAG		pericentrin							73.0	74.0	74.0					21																	47783638		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47783638C>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2398C>G	21.37:g.47783638C>G	ENSP00000352572:p.Gln800Glu					PCNT_uc002zjj.2_Missense_Mutation_p.Q682E	p.Q800E	NM_006031	NP_006022	O95613	PCNT_HUMAN			14	2505	+	Breast(49;0.112)		800			Potential.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.2398C>G	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130767	0.77549	.	.	ENSG00000160299	ENST00000359568	T	0.23754	1.89	5.26	5.26	0.73747	.	0.000000	0.31370	N	0.007772	T	0.45816	0.1361	M	0.64997	1.995	0.30811	N	0.738896	D;D	0.64830	0.994;0.994	P;D	0.70716	0.888;0.97	T	0.42172	-0.9467	10	0.19147	T	0.46	.	16.0149	0.80430	0.0:1.0:0.0:0.0	.	682;800	O95613-2;O95613	.;PCNT_HUMAN	E	800	ENSP00000352572:Q800E	ENSP00000352572:Q800E	Q	+	1	0	PCNT	46608066	0.997000	0.39634	0.992000	0.48379	0.945000	0.59286	3.322000	0.52007	2.461000	0.83175	0.585000	0.79938	CAG		0.522	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		3	96	0	0	0	0	3	96				
CECR1	51816	broad.mit.edu	37	22	17688100	17688100	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr22:17688100G>A	ENST00000399839.1	-	3	673	c.403C>T	c.(403-405)Cac>Tac	p.H135Y	CECR1_ENST00000399837.2_Missense_Mutation_p.H135Y|CECR1_ENST00000262607.3_Missense_Mutation_p.H135Y|CECR1_ENST00000449907.2_Missense_Mutation_p.H93Y	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	135	PRB domain.				adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				AAACAGATGTGGCAGTGAGGC	0.522																																						uc002zmk.1		NA																	0				ovary(1)	1						c.(403-405)CAC>TAC		cat eye syndrome critical region protein 1							133.0	129.0	131.0					22																	17688100		2203	4300	6503	SO:0001583	missense	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17688100G>A	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.403C>T	22.37:g.17688100G>A	ENSP00000382733:p.His135Tyr					CECR1_uc010gqu.1_Missense_Mutation_p.H135Y|CECR1_uc011agi.1_Missense_Mutation_p.H93Y|CECR1_uc011agj.1_Missense_Mutation_p.H93Y	p.H135Y	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN			2	615	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	135			PRB domain.		A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	c.403C>T	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	G	4.000	-0.002732	0.07819	.	.	ENSG00000093072	ENST00000399839;ENST00000262607;ENST00000449907;ENST00000399837;ENST00000543038;ENST00000441548	T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48	4.34	0.997	0.19851	.	0.320352	0.34484	N	0.003924	T	0.47229	0.1434	N	0.02357	-0.585	0.28600	N	0.909209	B	0.06786	0.001	B	0.01281	0.0	T	0.46652	-0.9176	10	0.02654	T	1	.	5.9942	0.19485	0.5528:0.0:0.4472:0.0	.	135	Q9NZK5	CECR1_HUMAN	Y	135;135;93;135;135;135	ENSP00000382733:H135Y;ENSP00000262607:H135Y;ENSP00000406443:H93Y;ENSP00000382731:H135Y;ENSP00000442482:H135Y	ENSP00000262607:H135Y	H	-	1	0	CECR1	16068100	1.000000	0.71417	0.985000	0.45067	0.983000	0.72400	1.425000	0.34859	0.754000	0.32968	0.555000	0.69702	CAC		0.522	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			48	89	0	0	0	0	48	89				
SERPIND1	3053	broad.mit.edu	37	22	21138321	21138321	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr22:21138321G>A	ENST00000215727.5	+	3	1234	c.951G>A	c.(949-951)gaG>gaA	p.E317E	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.E317E|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	317					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	GGCTGAATGAGAGAGAGGTAG	0.502											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ztb.1		NA																	0					0						c.(949-951)GAG>GAA		heparin cofactor II precursor	Ardeparin(DB00407)						172.0	158.0	162.0					22																	21138321		2203	4300	6503	SO:0001819	synonymous_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21138321G>A	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.951G>A	22.37:g.21138321G>A			OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	746	PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Silent_p.E345E	p.E317E	NM_000185	NP_000176	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		3	1018	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	317					B2RAI1|D3DX34|Q6IBZ5	Silent	SNP	ENST00000215727.5	37	c.951G>A	CCDS13783.1																																																																																				0.502	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		24	270	0	0	0	0	24	270				
SFI1	9814	broad.mit.edu	37	22	32007798	32007798	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr22:32007798G>A	ENST00000400288.2	+	24	2567	c.2462G>A	c.(2461-2463)cGg>cAg	p.R821Q	SFI1_ENST00000400289.1_Missense_Mutation_p.R739Q|SFI1_ENST00000414585.1_Missense_Mutation_p.R668Q|SFI1_ENST00000443011.1_Missense_Mutation_p.R668Q|SFI1_ENST00000432498.1_Missense_Mutation_p.R790Q|SFI1_ENST00000443326.1_Missense_Mutation_p.R739Q|SFI1_ENST00000540643.1_Missense_Mutation_p.R766Q	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	821					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.R821Q(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						AGACTCAGCCGGACCTGCTTC	0.617																																						uc003ale.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	central_nervous_system(1)	1						c.(2461-2463)CGG>CAG		spindle assembly associated Sfi1 homolog isoform							45.0	54.0	51.0					22																	32007798		2122	4254	6376	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32007798G>A	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2462G>A	22.37:g.32007798G>A	ENSP00000383145:p.Arg821Gln					SFI1_uc003alf.2_Missense_Mutation_p.R790Q|SFI1_uc003alg.2_Missense_Mutation_p.R739Q|SFI1_uc011alp.1_Missense_Mutation_p.R727Q|SFI1_uc011alq.1_Missense_Mutation_p.R766Q|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_5'Flank|SFI1_uc003alj.2_5'Flank	p.R821Q	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN			24	2855	+			821					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.2462G>A	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	G	6.595	0.478153	0.12521	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.14640	3.14;3.14;2.98;3.01;2.99;2.98;3.17;2.49	5.37	0.96	0.19631	.	0.607393	0.17664	N	0.166202	T	0.05960	0.0155	N	0.08118	0	0.23010	N	0.998433	B;B;B;B;B	0.22746	0.074;0.03;0.032;0.074;0.012	B;B;B;B;B	0.16289	0.015;0.005;0.005;0.015;0.005	T	0.33929	-0.9849	10	0.39692	T	0.17	.	7.1512	0.25612	0.3602:0.0:0.6398:0.0	.	766;727;739;790;821	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;SFI1_HUMAN	Q	790;766;739;668;668;739;821;404	ENSP00000402679:R790Q;ENSP00000443025:R766Q;ENSP00000416469:R739Q;ENSP00000397148:R668Q;ENSP00000401199:R668Q;ENSP00000383146:R739Q;ENSP00000383145:R821Q;ENSP00000398871:R404Q	ENSP00000383145:R821Q	R	+	2	0	SFI1	30337798	0.000000	0.05858	0.456000	0.27044	0.169000	0.22640	-0.240000	0.08952	0.266000	0.21894	-0.254000	0.11334	CGG		0.617	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		21	31	0	0	0	0	21	31				
PACSIN2	11252	broad.mit.edu	37	22	43275154	43275154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr22:43275154G>A	ENST00000263246.3	-	8	1129	c.928C>T	c.(928-930)Cga>Tga	p.R310*	PACSIN2_ENST00000403744.3_Nonsense_Mutation_p.R310*|PACSIN2_ENST00000407585.1_Nonsense_Mutation_p.R310*|PACSIN2_ENST00000402229.1_Nonsense_Mutation_p.R310*|PACSIN2_ENST00000337959.4_Nonsense_Mutation_p.R310*	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	310					actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CTGAGGGTTCGATTCAGGTCT	0.592																																						uc010gzg.2		NA																	0					0						c.(928-930)CGA>TGA		protein kinase C and casein kinase substrate in							77.0	81.0	80.0					22																	43275154		2075	4210	6285	SO:0001587	stop_gained	11252				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	g.chr22:43275154G>A	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.928C>T	22.37:g.43275154G>A	ENSP00000263246:p.Arg310*					PACSIN2_uc003bdg.3_Nonsense_Mutation_p.R310*|PACSIN2_uc003bde.3_Nonsense_Mutation_p.R310*|PACSIN2_uc003bdf.3_Nonsense_Mutation_p.R310*	p.R310*	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN			8	1150	-		Glioma(61;0.222)	310					O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Nonsense_Mutation	SNP	ENST00000263246.3	37	c.928C>T	CCDS43023.1	.	.	.	.	.	.	.	.	.	.	G	41	9.006859	0.99033	.	.	ENSG00000100266	ENST00000263246;ENST00000337959;ENST00000407585;ENST00000403744;ENST00000402229	.	.	.	5.07	5.07	0.68467	.	0.058352	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	3.1847	18.8978	0.92430	0.0:0.0:1.0:0.0	.	.	.	.	X	310	.	ENSP00000263246:R310X	R	-	1	2	PACSIN2	41605098	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.532000	0.73825	2.528000	0.85240	0.558000	0.71614	CGA		0.592	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229		5	101	0	0	0	0	5	101				
SACM1L	22908	broad.mit.edu	37	3	45744942	45744942	+	Silent	SNP	T	T	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:45744942T>C	ENST00000389061.5	+	2	249	c.45T>C	c.(43-45)ccT>ccC	p.P15P	SACM1L_ENST00000541314.1_5'UTR|SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000464524.1_3'UTR	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	15					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		ATATCACACCTGAAAAATTTT	0.348																																						uc003cos.2		NA																	0				ovary(1)	1						c.(43-45)CCT>CCC		suppressor of actin 1							110.0	109.0	110.0					3																	45744942		2203	4300	6503	SO:0001819	synonymous_variant	22908					Golgi apparatus		g.chr3:45744942T>C	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.45T>C	3.37:g.45744942T>C						SACM1L_uc011bag.1_5'UTR|SACM1L_uc011bah.1_5'UTR	p.P15P	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	2	249	+			15					A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Silent	SNP	ENST00000389061.5	37	c.45T>C	CCDS33745.1																																																																																				0.348	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		3	125	0	0	0	0	3	125				
CCR2	729230	broad.mit.edu	37	3	46399948	46399948	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:46399948G>A	ENST00000400888.2	+	1	969	c.930G>A	c.(928-930)gaG>gaA	p.E310E	CCR2_ENST00000292301.4_Silent_p.E310E|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000445132.2_Silent_p.E310E			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	310					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TCGTTGGGGAGAAGTTCAGAA	0.502																																						uc003cpn.3		NA																	0				lung(1)|breast(1)	2						c.(928-930)GAG>GAA		chemokine (C-C motif) receptor 2 isoform A							153.0	135.0	141.0					3																	46399948		1568	3582	5150	SO:0001819	synonymous_variant	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399948G>A		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.930G>A	3.37:g.46399948G>A						CCR2_uc003cpm.3_Silent_p.E310E	p.E310E	NM_001123041	NP_001116513	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	1415	+			310			Cytoplasmic (Potential).		A0AVQ3|B2RMT0|Q4VBL2	Silent	SNP	ENST00000400888.2	37	c.930G>A	CCDS43078.1																																																																																				0.502	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		15	149	0	0	0	0	15	149				
DNAH1	25981	broad.mit.edu	37	3	52404531	52404531	+	Silent	SNP	C	C	T	rs377060183		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:52404531C>T	ENST00000420323.2	+	40	6558	c.6297C>T	c.(6295-6297)atC>atT	p.I2099I		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2099					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)	p.I2099I(1)		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)		TGAGTCGCATCGTAGAGTTGA	0.557																																						uc011bef.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	large_intestine(3)	3						c.(6295-6297)ATC>ATT		dynein, axonemal, heavy chain 1		C		1,4019		0,1,2009	62.0	63.0	63.0		6297	0.7	0.7	3		63	0,8364		0,0,4182	no	coding-synonymous	DNAH1	NM_015512.4		0,1,6191	TT,TC,CC		0.0,0.0249,0.0081		2099/4266	52404531	1,12383	2010	4182	6192	SO:0001819	synonymous_variant	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.chr3:52404531C>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.6297C>T	3.37:g.52404531C>T							p.I2099I	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)	40	6558	+			2099					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.6297C>T	CCDS46842.1																																																																																				0.557	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		12	27	0	0	0	0	12	27				
MUSTN1	389125	broad.mit.edu	37	3	52867433	52867433	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:52867433C>T	ENST00000446157.2	-	3	426	c.156G>A	c.(154-156)tcG>tcA	p.S52S	RP5-966M1.6_ENST00000468472.1_Silent_p.S52S|ITIH4_ENST00000434759.3_5'Flank|RP5-966M1.6_ENST00000513520.1_5'UTR|TMEM110-MUSTN1_ENST00000504329.1_Silent_p.S342S|ITIH4_ENST00000266041.4_5'Flank|ITIH4_ENST00000406595.1_5'Flank|ITIH4_ENST00000485816.1_5'Flank|MUSTN1_ENST00000486659.1_Silent_p.S57S|ITIH4_ENST00000346281.5_5'Flank	NM_205853.3	NP_995325	Q8IVN3	MSTN1_HUMAN	musculoskeletal, embryonic nuclear protein 1	52						nucleus (GO:0005634)		p.S52S(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(193;6.56e-05)|Kidney(197;0.000586)|KIRC - Kidney renal clear cell carcinoma(197;0.000755)|OV - Ovarian serous cystadenocarcinoma(275;0.0471)		ACGGGGCGGCCGAGCCAGCTT	0.602																																						uc003dgc.3		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	large_intestine(1)	1						c.(1024-1026)TCG>TCA		transmembrane protein 110							40.0	47.0	45.0					3																	52867433		1993	4140	6133	SO:0001819	synonymous_variant	375346					integral to membrane		g.chr3:52867433C>T		CCDS46846.1	3p21.31	2004-03-10				ENSG00000272573			22144	protein-coding gene	gene with protein product							Standard	NM_205853		Approved	Mustang		Q8IVN3		ENST00000446157.2:c.156G>A	3.37:g.52867433C>T						ITIH4_uc011bem.1_5'Flank|ITIH4_uc011ben.1_5'Flank|ITIH4_uc003dfz.2_5'Flank|ITIH4_uc010hmp.1_5'Flank|MUSTN1_uc010hmq.1_RNA|MUSTN1_uc003dga.3_Silent_p.S52S|MUSTN1_uc003dgb.3_3'UTR	p.S342S	NM_198563	NP_940965	Q86TL2	TM110_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)	10	1107	-			Error:Variant_position_missing_in_Q86TL2_after_alignment						Silent	SNP	ENST00000446157.2	37	c.1026G>A	CCDS46846.1	.	.	.	.	.	.	.	.	.	.	C	8.325	0.825181	0.16749	.	.	ENSG00000243696	ENST00000513520	.	.	.	4.89	-8.85	0.00799	.	.	.	.	.	T	0.15219	0.0367	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.20638	-1.0269	4	.	.	.	-0.2369	2.1092	0.03698	0.2868:0.0949:0.3705:0.2478	.	.	.	.	S	15	.	.	G	-	1	0	MUSTN1	52842473	0.000000	0.05858	0.006000	0.13384	0.828000	0.46876	-2.325000	0.01115	-1.231000	0.02557	0.455000	0.32223	GGC		0.602	MUSTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352933.2	XM_371644		22	25	0	0	0	0	22	25				
DHFRL1	200895	broad.mit.edu	37	3	93780144	93780144	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:93780144C>T	ENST00000394221.2	-	2	661	c.212G>A	c.(211-213)aGa>aAa	p.R71K	NSUN3_ENST00000314622.4_5'Flank|DHFRL1_ENST00000314636.2_Missense_Mutation_p.R71K|DHFRL1_ENST00000481631.1_Intron	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	71	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						TAAATTAATTCTATCCTTTAA	0.413																																						uc003dri.2		NA																	0					0						c.(211-213)AGA>AAA		dihydrofolate reductase-like 1							121.0	124.0	123.0					3																	93780144		2203	4300	6503	SO:0001583	missense	200895				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding	g.chr3:93780144C>T	AL832912	CCDS2926.1	3q11.2	2005-08-16	2005-02-07		ENSG00000178700	ENSG00000178700			27309	protein-coding gene	gene with protein product			"""dihydrofolate reductase pseudogene 4"""	DHFRP4		12477932	Standard	NM_001195643		Approved	FLJ16119	uc003drj.3	Q86XF0	OTTHUMG00000159014	ENST00000394221.2:c.212G>A	3.37:g.93780144C>T	ENSP00000377768:p.Arg71Lys					DHFRL1_uc003drj.2_Missense_Mutation_p.R71K|NSUN3_uc003drk.2_5'Flank|NSUN3_uc003drl.1_5'Flank	p.R71K	NM_176815	NP_789785	Q86XF0	DYRL1_HUMAN			2	378	-			71			DHFR.	Substrate (By similarity).	D3DN30|Q6P4I9	Missense_Mutation	SNP	ENST00000394221.2	37	c.212G>A	CCDS2926.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468017	0.63625	.	.	ENSG00000178700	ENST00000314636;ENST00000394221;ENST00000496983	T;T;T	0.80304	-1.36;-1.36;-1.36	0.811	0.811	0.18739	Dihydrofolate reductase domain (2);Dihydrofolate reductase-like domain (2);	0.000000	0.85682	U	0.000000	D	0.92172	0.7518	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90484	0.4462	10	0.87932	D	0	-13.7779	7.4961	0.27490	0.0:1.0:0.0:0.0	.	71	Q86XF0	DYRL1_HUMAN	K	71	ENSP00000319170:R71K;ENSP00000377768:R71K;ENSP00000420810:R71K	ENSP00000319170:R71K	R	-	2	0	DHFRL1	95262834	1.000000	0.71417	0.979000	0.43373	0.863000	0.49368	4.387000	0.59626	0.747000	0.32809	0.449000	0.29647	AGA		0.413	DHFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352910.1	NM_176815		7	613	0	0	0	0	7	613				
OR5H15	403274	broad.mit.edu	37	3	97887885	97887885	+	Silent	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:97887885C>G	ENST00000356526.2	+	1	342	c.342C>G	c.(340-342)ctC>ctG	p.L114L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						AATGTTTTCTCTTGGCAACAA	0.378																																						uc011bgu.1		NA																	0				ovary(1)|skin(1)	2						c.(340-342)CTC>CTG		olfactory receptor, family 5, subfamily H,							109.0	107.0	108.0					3																	97887885		2203	4298	6501	SO:0001819	synonymous_variant	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887885C>G		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.342C>G	3.37:g.97887885C>G							p.L114L	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	342	+			114			Helical; Name=3; (Potential).			Silent	SNP	ENST00000356526.2	37	c.342C>G	CCDS33799.1																																																																																				0.378	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			4	562	0	0	0	0	4	562				
TOMM70A	9868	broad.mit.edu	37	3	100084508	100084508	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:100084508T>G	ENST00000284320.5	-	12	2175	c.1727A>C	c.(1726-1728)aAa>aCa	p.K576T		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	576					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)	p.K576T(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CATTTCCGATTTGGCCAGGTT	0.398																																						uc003dtw.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(1726-1728)AAA>ACA		translocase of outer mitochondrial membrane 70							189.0	178.0	181.0					3																	100084508		2203	4300	6503	SO:0001583	missense	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100084508T>G	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.1727A>C	3.37:g.100084508T>G	ENSP00000284320:p.Lys576Thr						p.K576T	NM_014820	NP_055635	O94826	TOM70_HUMAN			12	2159	-			576			Cytoplasmic (Potential).|TPR 10.		D3DN48	Missense_Mutation	SNP	ENST00000284320.5	37	c.1727A>C	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.619009	0.87460	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.50001	0.76	5.82	5.82	0.92795	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.63343	0.2503	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.58440	-0.7636	10	0.22109	T	0.4	-19.7262	16.1917	0.81992	0.0:0.0:0.0:1.0	.	576	O94826	TOM70_HUMAN	T	576;469	ENSP00000284320:K576T	ENSP00000284320:K576T	K	-	2	0	TOMM70A	101567198	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.661000	0.83786	2.216000	0.71823	0.533000	0.62120	AAA		0.398	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			5	455	0	0	0	0	5	455				
TMPRSS7	344805	broad.mit.edu	37	3	111769615	111769615	+	Silent	SNP	T	T	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:111769615T>C	ENST00000452346.2	+	9	1191	c.1188T>C	c.(1186-1188)tgT>tgC	p.C396C	TMPRSS7_ENST00000419127.1_Silent_p.C270C			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	396	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.C125C(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AATGCAAGTGTACCTGGAAAT	0.353																																						uc010hqb.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)|kidney(1)	2						c.(808-810)TGT>TGC		transmembrane protease, serine 7							148.0	137.0	140.0					3																	111769615		1837	4079	5916	SO:0001819	synonymous_variant	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111769615T>C	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1188T>C	3.37:g.111769615T>C						TMPRSS7_uc011bhr.1_Silent_p.C125C	p.C270C	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			7	980	+			396			Extracellular (Potential).|CUB 2.		C9J8P7|E9PAS3|Q17RH4	Silent	SNP	ENST00000452346.2	37	c.810T>C																																																																																					0.353	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		111	560	0	0	0	0	111	560				
EPHB1	2047	broad.mit.edu	37	3	134644682	134644682	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:134644682C>A	ENST00000398015.3	+	2	453	c.83C>A	c.(82-84)gCt>gAt	p.A28D	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	28	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				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						ACCAGAACGGCTACTGCAGAG	0.458																																						uc003eqt.2		NA																	0				lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(82-84)GCT>GAT		ephrin receptor EphB1 precursor							62.0	69.0	67.0					3																	134644682		1885	4111	5996	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134644682C>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.83C>A	3.37:g.134644682C>A	ENSP00000381097:p.Ala28Asp					EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.A28D	p.A28D	NM_004441	NP_004432	P54762	EPHB1_HUMAN			2	303	+			28			Extracellular (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.83C>A	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427608	0.83667	.	.	ENSG00000154928	ENST00000460895;ENST00000398015;ENST00000497173;ENST00000473867;ENST00000474732	T;T;T;T;T	0.03860	3.78;3.78;3.78;3.78;3.78	4.33	4.33	0.51752	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	T	0.19765	0.0475	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.91635	0.89;0.999	T	0.00800	-1.1561	10	0.46703	T	0.11	.	17.0176	0.86423	0.0:1.0:0.0:0.0	.	28;28	B5A969;P54762	.;EPHB1_HUMAN	D	6;28;6;6;6	ENSP00000417435:A6D;ENSP00000381097:A28D;ENSP00000419688:A6D;ENSP00000417216:A6D;ENSP00000418352:A6D	ENSP00000381097:A28D	A	+	2	0	EPHB1	136127372	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.278000	0.65592	2.253000	0.74438	0.555000	0.69702	GCT		0.458	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		3	29	1	0	6.4e-05	7.06e-05	3	29				
CLSTN2	64084	broad.mit.edu	37	3	140178491	140178491	+	Missense_Mutation	SNP	G	G	T	rs555082751		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:140178491G>T	ENST00000458420.3	+	7	1292	c.1102G>T	c.(1102-1104)Gat>Tat	p.D368Y	RP11-68L1.2_ENST00000503357.1_RNA|RP11-68L1.1_ENST00000483759.2_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	368					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.D368Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CAAAGTCCCCGATGGGATTGT	0.577										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(1102-1104)GAT>TAT		calsyntenin 2 precursor							83.0	70.0	74.0					3																	140178491		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140178491G>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1102G>T	3.37:g.140178491G>T	ENSP00000402460:p.Asp368Tyr	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.D368Y	p.D368Y	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			7	1292	+			368			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1102G>T	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506034	0.64410	.	.	ENSG00000158258	ENST00000458420	T	0.74421	-0.84	5.4	5.4	0.78164	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.054301	0.64402	D	0.000001	D	0.84692	0.5528	M	0.69185	2.1	0.58432	D	0.999998	D	0.76494	0.999	D	0.71656	0.974	D	0.86160	0.1593	10	0.87932	D	0	-3.5056	16.6778	0.85284	0.0:0.0:1.0:0.0	.	368	Q9H4D0	CSTN2_HUMAN	Y	368	ENSP00000402460:D368Y	ENSP00000402460:D368Y	D	+	1	0	CLSTN2	141661181	1.000000	0.71417	0.825000	0.32803	0.778000	0.44026	4.784000	0.62411	2.547000	0.85894	0.650000	0.86243	GAT		0.577	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		28	150	1	0	4.6e-10	5.31e-10	28	150				
RSRC1	51319	broad.mit.edu	37	3	157921018	157921018	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:157921018C>T	ENST00000295930.3	+	4	640	c.478C>T	c.(478-480)Cat>Tat	p.H160Y	RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000480820.1_Missense_Mutation_p.H160Y|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000475278.2_Missense_Mutation_p.H160Y|RSRC1_ENST00000312179.6_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	160					mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.H160Y(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			caaggaATTACATAACATCAA	0.413																																						uc003fbt.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(478-480)CAT>TAT		arginine/serine-rich coiled-coil 1							87.0	95.0	92.0					3																	157921018		2203	4300	6503	SO:0001583	missense	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:157921018C>T	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.478C>T	3.37:g.157921018C>T	ENSP00000295930:p.His160Tyr					RSRC1_uc011bou.1_Intron|RSRC1_uc003fbu.1_Missense_Mutation_p.H160Y|RSRC1_uc003fbv.2_Intron	p.H160Y	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		4	589	+			160					A8K2R9|Q96QK2|Q9NZE5	Missense_Mutation	SNP	ENST00000295930.3	37	c.478C>T	CCDS3181.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.080|9.080	0.999096|0.999096	0.19121|0.19121	.|.	.|.	ENSG00000174891|ENSG00000174891	ENST00000480820;ENST00000494002;ENST00000295930;ENST00000471994;ENST00000475278;ENST00000476899|ENST00000482822	.|.	.|.	.|.	5.04|5.04	3.21|3.21	0.36854|0.36854	.|.	0.735394|.	0.13653|.	N|.	0.372150|.	T|T	0.15652|0.15652	0.0377|0.0377	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B|.	0.27229|.	0.172|.	B|.	0.25140|.	0.058|.	T|T	0.21042|0.21042	-1.0257|-1.0257	9|5	0.59425|.	D|.	0.04|.	.|.	8.3735|8.3735	0.32430|0.32430	0.0:0.8135:0.0:0.1865|0.0:0.8135:0.0:0.1865	.|.	160|.	Q96IZ7|.	RSRC1_HUMAN|.	Y|I	160|53	.|.	ENSP00000295930:H160Y|.	H|T	+|+	1|2	0|0	RSRC1|RSRC1	159403712|159403712	0.003000|0.003000	0.15002|0.15002	0.007000|0.007000	0.13788|0.13788	0.972000|0.972000	0.66771|0.66771	0.428000|0.428000	0.21395|0.21395	1.256000|1.256000	0.44068|0.44068	0.591000|0.591000	0.81541|0.81541	CAT|ACA		0.413	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		33	10	0	0	0	0	33	10				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			30	218	0	0	0	0	30	218				
YEATS2	55689	broad.mit.edu	37	3	183471980	183471980	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:183471980G>C	ENST00000305135.5	+	11	1412	c.1217G>C	c.(1216-1218)aGa>aCa	p.R406T		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	406					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCATTGGAAAGAACACCCACC	0.443																																						uc003fly.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(1216-1218)AGA>ACA		YEATS domain containing 2							159.0	155.0	156.0					3																	183471980		1948	4143	6091	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183471980G>C	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1217G>C	3.37:g.183471980G>C	ENSP00000306983:p.Arg406Thr						p.R406T	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		11	1412	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		406					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.1217G>C	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660459	0.88154	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.28069	1.63	5.72	4.82	0.62117	.	0.067067	0.64402	D	0.000009	T	0.36799	0.0980	L	0.29908	0.895	0.50171	D	0.999855	D	0.63880	0.993	P	0.55508	0.777	T	0.19484	-1.0304	10	0.66056	D	0.02	-9.8736	13.8628	0.63571	0.0762:0.0:0.9238:0.0	.	406	Q9ULM3	YETS2_HUMAN	T	406	ENSP00000306983:R406T	ENSP00000306983:R406T	R	+	2	0	YEATS2	184954674	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.601000	0.67606	1.350000	0.45770	0.557000	0.71058	AGA		0.443	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		12	781	0	0	0	0	12	781				
ECE2	9718	broad.mit.edu	37	3	184008348	184008348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:184008348G>A	ENST00000402825.3	+	15	2013	c.2013G>A	c.(2011-2013)tgG>tgA	p.W671*	ECE2_ENST00000404464.3_Nonsense_Mutation_p.W553*|ECE2_ENST00000359140.4_Nonsense_Mutation_p.W524*|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Nonsense_Mutation_p.W599*	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	671	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGCCAGGTGGAGCATGACCC	0.622																																						uc003fni.3		NA																	0				ovary(2)|skin(2)	4						c.(2011-2013)TGG>TGA		endothelin converting enzyme 2 isoform A							73.0	76.0	75.0					3																	184008348		2203	4300	6503	SO:0001587	stop_gained	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184008348G>A	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2013G>A	3.37:g.184008348G>A	ENSP00000384223:p.Trp671*					ECE2_uc011brh.1_Nonsense_Mutation_p.W524*|ECE2_uc003fnl.3_Nonsense_Mutation_p.W599*|ECE2_uc003fnm.3_Nonsense_Mutation_p.W553*|ECE2_uc003fnk.3_Nonsense_Mutation_p.W524*|ECE2_uc011bri.1_Nonsense_Mutation_p.W586*|ECE2_uc010hxv.2_Nonsense_Mutation_p.W315*	p.W671*	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		15	2051	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		671			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Nonsense_Mutation	SNP	ENST00000402825.3	37	c.2013G>A	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	36	5.823186	0.96989	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7639	18.1065	0.89521	0.0:0.0:1.0:0.0	.	.	.	.	X	671;524;553;599;545	.	ENSP00000350066:W599X	W	+	3	0	ECE2	185491042	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.869000	0.99810	2.616000	0.88540	0.555000	0.69702	TGG		0.622	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		14	522	0	0	0	0	14	522				
BCL6	604	broad.mit.edu	37	3	187447102	187447102	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:187447102G>A	ENST00000406870.2	-	5	1457	c.1091C>T	c.(1090-1092)gCc>gTc	p.A364V	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.A364V|BCL6_ENST00000232014.4_Missense_Mutation_p.A364V|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	364					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GGGGCTCTTGGCTGGAGGGGA	0.577			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	uc003frp.3		NA		Dom	yes		3	3q27	604	T|Mis	B-cell CLL/lymphoma 6			L	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL		0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(1090-1092)GCC>GTC		B-cell lymphoma 6 protein isoform 1							142.0	163.0	156.0					3																	187447102		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447102G>A		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1091C>T	3.37:g.187447102G>A	ENSP00000384371:p.Ala364Val					BCL6_uc011bsf.1_Missense_Mutation_p.A364V|BCL6_uc010hza.2_Missense_Mutation_p.A262V|BCL6_uc003frq.1_Missense_Mutation_p.A364V	p.A364V	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1548	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		364					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.1091C>T	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674584	0.67928	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.08458	3.11;3.11;3.09	5.61	5.61	0.85477	.	0.162420	0.56097	D	0.000026	T	0.07143	0.0181	N	0.22421	0.69	0.42957	D	0.994393	B;B	0.30068	0.267;0.172	B;B	0.22386	0.027;0.039	T	0.43147	-0.9409	10	0.21540	T	0.41	.	18.9993	0.92826	0.0:0.0:1.0:0.0	.	364;364	B8PSA7;P41182	.;BCL6_HUMAN	V	364	ENSP00000384371:A364V;ENSP00000232014:A364V;ENSP00000413122:A364V	ENSP00000232014:A364V	A	-	2	0	BCL6	188929796	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.763000	0.74955	2.815000	0.96918	0.561000	0.74099	GCC		0.577	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		18	863	0	0	0	0	18	863				
MUC4	4585	broad.mit.edu	37	3	195486032	195486032	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:195486032G>A	ENST00000346145.4	-	16	2280	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	MUC4_ENST00000463781.3_Silent_p.F4983F|MUC4_ENST00000349607.4_Silent_p.F696F|MUC4_ENST00000475231.1_Silent_p.F4931F	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1740					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTCTGAGCGTGAAGTTGGCAT	0.552																																						uc011bto.1		NA																	0					0						c.(14563-14565)TTC>TTT		mucin 4 isoform a							288.0	277.0	280.0					3																	195486032		2203	4300	6503	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195486032G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2241C>T	3.37:g.195486032G>A						MUC4_uc003fuz.2_Silent_p.F581F|MUC4_uc003fva.2_Silent_p.F463F|MUC4_uc003fvb.2_Silent_p.F499F|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.F499F|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.F463F|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.F547F|MUC4_uc011bti.1_Silent_p.F547F|MUC4_uc011btj.1_Silent_p.F724F|MUC4_uc011btk.1_Silent_p.F463F|MUC4_uc011btl.1_Silent_p.F492F|MUC4_uc011btm.1_Silent_p.F672F|MUC4_uc011btn.1_Silent_p.F463F|MUC4_uc003fvo.2_Silent_p.F747F|MUC4_uc003fvp.2_Silent_p.F696F	p.F4855F	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	18	15025	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1740					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	c.14565C>T	CCDS3310.1																																																																																				0.552	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		7	898	0	0	0	0	7	898				
MUC4	4585	broad.mit.edu	37	3	195517519	195517519	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:195517519G>C	ENST00000463781.3	-	2	1391	c.932C>G	c.(931-933)tCa>tGa	p.S311*	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.S311*	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	316					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAAGTCCTTGAGAAAGTTGC	0.473																																						uc011bto.1		NA																	0					0						c.(931-933)TCA>TGA		mucin 4 isoform a							214.0	206.0	209.0					3																	195517519		2009	4179	6188	SO:0001587	stop_gained	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195517519G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.932C>G	3.37:g.195517519G>C	ENSP00000417498:p.Ser311*					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Nonsense_Mutation_p.S193*	p.S311*	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	1392	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	316					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Nonsense_Mutation	SNP	ENST00000463781.3	37	c.932C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	19.41	3.822399	0.71028	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	.	.	.	3.7	-0.187	0.13268	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	6.1419	0.20265	0.4836:0.0:0.5164:0.0	.	.	.	.	X	311;311;285	.	ENSP00000376209:S285X	S	-	2	0	MUC4	197001914	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.556000	0.05992	-0.046000	0.13446	0.627000	0.83407	TCA		0.473	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		6	606	0	0	0	0	6	606				
LRCH3	84859	broad.mit.edu	37	3	197585712	197585712	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:197585712C>T	ENST00000425562.2	+	15	1652	c.1652C>T	c.(1651-1653)tCa>tTa	p.S551L	LRCH3_ENST00000438796.2_Missense_Mutation_p.S551L|LRCH3_ENST00000334859.4_Missense_Mutation_p.S551L|LRCH3_ENST00000414675.2_Intron|LRCH3_ENST00000536618.1_Missense_Mutation_p.S146L|LRCH3_ENST00000441090.2_Missense_Mutation_p.S397L			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	551						cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.S551L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TAGTCGCTGTCAGGGTTGAAT	0.438																																						uc011bul.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(1651-1653)TCA>TTA		leucine-rich repeats and calponin homology (CH)							194.0	182.0	186.0					3																	197585712		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197585712C>T	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1652C>T	3.37:g.197585712C>T	ENSP00000393579:p.Ser551Leu					LRCH3_uc003fyj.1_Missense_Mutation_p.S551L|LRCH3_uc011bum.1_Intron|LRCH3_uc011bun.1_Missense_Mutation_p.S397L|LRCH3_uc003fyk.2_Missense_Mutation_p.S146L	p.S551L	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	15	1657	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		551					B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.1652C>T		.	.	.	.	.	.	.	.	.	.	C	22.7	4.327013	0.81690	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000334859;ENST00000425562;ENST00000536618;ENST00000452660	T;T;T;T;T;T	0.51574	1.93;1.33;2.19;1.95;0.7;0.81	5.07	5.07	0.68467	.	0.400535	0.23286	N	0.049845	T	0.56321	0.1977	L	0.29908	0.895	0.35849	D	0.826654	B;D;B;D	0.89917	0.166;0.987;0.168;1.0	B;P;B;D	0.74023	0.059;0.854;0.018;0.982	T	0.66578	-0.5888	10	0.72032	D	0.01	-8.1106	14.0122	0.64505	0.0:1.0:0.0:0.0	.	397;551;551;551	E9PD99;Q96II8-2;Q96II8;Q96II8-3	.;.;LRCH3_HUMAN;.	L	551;397;551;551;146;62	ENSP00000399751:S551L;ENSP00000394609:S397L;ENSP00000334375:S551L;ENSP00000393579:S551L;ENSP00000439083:S146L;ENSP00000395309:S62L	ENSP00000334375:S551L	S	+	2	0	LRCH3	199070109	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.304000	0.59104	2.349000	0.79799	0.650000	0.86243	TCA		0.438	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		86	415	0	0	0	0	86	415				
APBB2	323	broad.mit.edu	37	4	40936491	40936491	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:40936491G>A	ENST00000295974.8	-	10	1862	c.1233C>T	c.(1231-1233)aaC>aaT	p.N411N	APBB2_ENST00000508593.1_Silent_p.N412N|APBB2_ENST00000506352.1_Silent_p.N390N|APBB2_ENST00000513140.1_Silent_p.N390N	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	411					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTGGGTCACTGTTGATACTAC	0.383																																					Ovarian(3;20 75 16686 49997)	uc003gvl.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1231-1233)AAC>AAT		amyloid beta A4 precursor protein-binding,							137.0	141.0	140.0					4																	40936491		1874	4116	5990	SO:0001819	synonymous_variant	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40936491G>A	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1233C>T	4.37:g.40936491G>A						APBB2_uc010ifu.2_5'UTR|APBB2_uc003gvm.2_Silent_p.N390N|APBB2_uc003gvn.2_Silent_p.N412N|APBB2_uc011byt.1_Silent_p.N373N	p.N411N	NM_173075	NP_775098	Q92870	APBB2_HUMAN			10	1863	-			411					B4DSL4|E9PG87|Q8IUI6	Silent	SNP	ENST00000295974.8	37	c.1233C>T	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	G	8.960	0.970376	0.18659	.	.	ENSG00000163697	ENST00000513611	.	.	.	5.17	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-28.7294	13.1661	0.59571	0.0804:0.0:0.9196:0.0	.	.	.	.	X	381	.	.	Q	-	1	0	APBB2	40631248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.294000	0.72738	1.247000	0.43917	0.591000	0.81541	CAG		0.383	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		16	88	0	0	0	0	16	88				
TXK	7294	broad.mit.edu	37	4	48096216	48096216	+	Missense_Mutation	SNP	G	G	A	rs375757546		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:48096216G>A	ENST00000264316.4	-	8	672	c.587C>T	c.(586-588)aCg>aTg	p.T196M	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	196	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GGCAGCCTCCGTACTTCTACA	0.373																																						uc003gxx.3		NA																	0					0						c.(586-588)ACG>ATG		TXK tyrosine kinase		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	95.0	88.0	90.0		587	-0.3	0.0	4		90	0,8600		0,0,4300	no	missense	TXK	NM_003328.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	196/528	48096216	1,13005	2203	4300	6503	SO:0001583	missense	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48096216G>A	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.587C>T	4.37:g.48096216G>A	ENSP00000264316:p.Thr196Met					TXK_uc003gxy.1_Missense_Mutation_p.T196M	p.T196M	NM_003328	NP_003319	P42681	TXK_HUMAN			8	673	-			196			SH2.		Q14220	Missense_Mutation	SNP	ENST00000264316.4	37	c.587C>T	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	G	8.919	0.960506	0.18583	2.27E-4	0.0	ENSG00000074966	ENST00000264316	T	0.74842	-0.88	5.23	-0.301	0.12800	SH2 motif (4);	0.854610	0.10075	N	0.719271	T	0.55657	0.1934	N	0.25992	0.78	0.09310	N	0.999999	B	0.19200	0.034	B	0.22880	0.042	T	0.46884	-0.9159	10	0.51188	T	0.08	.	1.1976	0.01878	0.3338:0.2079:0.3267:0.1315	.	196	P42681	TXK_HUMAN	M	196	ENSP00000264316:T196M	ENSP00000264316:T196M	T	-	2	0	TXK	47790973	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.000000	0.12993	0.039000	0.15632	0.650000	0.86243	ACG		0.373	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		8	58	0	0	0	0	8	58				
PDHA2	5161	broad.mit.edu	37	4	96762282	96762282	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:96762282C>T	ENST00000295266.4	+	1	1044	c.981C>T	c.(979-981)ctC>ctT	p.L327L		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	327					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.L327L(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ACAGCAAGCTCGCCACTGTGG	0.428																																						uc003htr.3		NA																	2	Substitution - coding silent(2)		upper_aerodigestive_tract(1)|lung(1)	central_nervous_system(1)	1						c.(979-981)CTC>CTT		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						88.0	85.0	86.0					4																	96762282		2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762282C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.981C>T	4.37:g.96762282C>T							p.L327L	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	1044	+		Hepatocellular(203;0.114)	327					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.981C>T	CCDS3644.1																																																																																				0.428	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			40	53	0	0	0	0	40	53				
FAT4	79633	broad.mit.edu	37	4	126371107	126371107	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:126371107A>T	ENST00000394329.3	+	9	8949	c.8936A>T	c.(8935-8937)aAt>aTt	p.N2979I	FAT4_ENST00000335110.5_Missense_Mutation_p.N1277I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2979	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N2979I(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTAATGACAATGCACCTCAA	0.343																																						uc003ifj.3		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(8935-8937)AAT>ATT		FAT tumor suppressor homolog 4 precursor							62.0	64.0	63.0					4																	126371107		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371107A>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8936A>T	4.37:g.126371107A>T	ENSP00000377862:p.Asn2979Ile					FAT4_uc011cgp.1_Missense_Mutation_p.N1277I|FAT4_uc003ifi.1_Missense_Mutation_p.N457I	p.N2979I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	8936	+			2979			Cadherin 28.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.8936A>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	18.55	3.649245	0.67358	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.66099	-0.19;1.47	5.34	5.34	0.76211	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.36519	U	0.002556	D	0.85561	0.5725	H	0.95850	3.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	D	0.90198	0.4255	10	0.72032	D	0.01	.	15.6238	0.76833	1.0:0.0:0.0:0.0	.	1277;2979;2979	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	I	2979;1277	ENSP00000377862:N2979I;ENSP00000335169:N1277I	ENSP00000335169:N1277I	N	+	2	0	FAT4	126590557	1.000000	0.71417	0.953000	0.39169	0.844000	0.47949	9.097000	0.94193	2.152000	0.67230	0.533000	0.62120	AAT		0.343	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		37	65	0	0	0	0	37	65				
MAP9	79884	broad.mit.edu	37	4	156274418	156274418	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:156274418C>G	ENST00000311277.4	-	11	1718	c.1455G>C	c.(1453-1455)aaG>aaC	p.K485N	AC097467.2_ENST00000608092.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.K461N|AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000599555.2_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000598252.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	485					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CAGCTATTTTCTTTGCTTCCT	0.353																																						uc003ios.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1453-1455)AAG>AAC		aster-associated protein							94.0	90.0	92.0					4																	156274418		2203	4298	6501	SO:0001583	missense	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156274418C>G	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1455G>C	4.37:g.156274418C>G	ENSP00000310593:p.Lys485Asn					MAP9_uc011cin.1_Missense_Mutation_p.K460N|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.K484N	p.K485N	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	11	1719	-	all_hematologic(180;0.24)	Renal(120;0.0458)	485			Potential.		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	c.1455G>C	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811656	0.70797	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024	T;T;T	0.10288	2.89;2.89;2.89	5.37	5.37	0.77165	.	0.377797	0.31760	N	0.007104	T	0.25195	0.0612	L	0.60455	1.87	0.80722	D	1	D;D;D	0.59357	0.985;0.985;0.985	P;P;P	0.56563	0.801;0.801;0.747	T	0.00155	-1.1980	10	0.87932	D	0	-9.2884	16.1819	0.81915	0.0:1.0:0.0:0.0	.	460;485;485	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	N	485;461;484	ENSP00000310593:K485N;ENSP00000427402:K461N;ENSP00000394048:K484N	ENSP00000310593:K485N	K	-	3	2	MAP9	156493868	0.998000	0.40836	0.922000	0.36590	0.884000	0.51177	1.041000	0.30291	2.670000	0.90874	0.655000	0.94253	AAG		0.353	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		8	119	0	0	0	0	8	119				
MAP9	79884	broad.mit.edu	37	4	156289952	156289952	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:156289952C>A	ENST00000311277.4	-	5	757	c.494G>T	c.(493-495)aGc>aTc	p.S165I	AC097467.2_ENST00000597831.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.S165I|MAP9_ENST00000379248.2_Missense_Mutation_p.S92I|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000596165.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	165					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)		p.S165I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TGTGTCAAGGCTGTTGTTTTC	0.388																																						uc003ios.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(493-495)AGC>ATC		aster-associated protein							90.0	86.0	87.0					4																	156289952		2203	4300	6503	SO:0001583	missense	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156289952C>A	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.494G>T	4.37:g.156289952C>A	ENSP00000310593:p.Ser165Ile					MAP9_uc011cin.1_Missense_Mutation_p.S164I|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.S164I|MAP9_uc010iqb.1_Missense_Mutation_p.S92I	p.S165I	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	5	758	-	all_hematologic(180;0.24)	Renal(120;0.0458)	165					Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	c.494G>T	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.491938	0.26774	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836;ENST00000379248	T;T;T;T	0.36878	2.11;2.1;1.27;1.23	5.05	4.17	0.49024	.	0.390991	0.25285	N	0.031776	T	0.49270	0.1547	L	0.57536	1.79	0.19575	N	0.999967	B;D;B;B	0.76494	0.008;0.999;0.047;0.047	B;D;B;B	0.67548	0.025;0.952;0.054;0.054	T	0.35500	-0.9786	10	0.52906	T	0.07	-0.7218	6.6933	0.23185	0.0:0.7683:0.0:0.2317	.	164;92;165;165	B4DVG9;A8MSM7;B9EJB6;Q49MG5	.;.;.;MAP9_HUMAN	I	165;165;164;165;92	ENSP00000310593:S165I;ENSP00000427402:S165I;ENSP00000394048:S164I;ENSP00000368550:S92I	ENSP00000310593:S165I	S	-	2	0	MAP9	156509402	0.042000	0.20092	0.913000	0.36048	0.758000	0.43043	0.810000	0.27183	1.160000	0.42584	0.460000	0.39030	AGC		0.388	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		38	69	1	0	6.21e-16	7.3e-16	38	69				
PDGFC	56034	broad.mit.edu	37	4	157771474	157771474	+	Silent	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:157771474C>G	ENST00000502773.1	-	2	703	c.213G>C	c.(211-213)acG>acC	p.T71T	PDGFC_ENST00000541126.1_Intron|PDGFC_ENST00000422544.2_Silent_p.T71T|PDGFC_ENST00000542208.1_5'Flank	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	71	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)	p.T71T(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		ATACCAAGACCGTATTTCTTG	0.388																																						uc003iph.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)|lung(1)|skin(1)	3						c.(211-213)ACG>ACC		platelet-derived growth factor C precursor							114.0	105.0	108.0					4																	157771474		2203	4300	6503	SO:0001819	synonymous_variant	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157771474C>G	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.213G>C	4.37:g.157771474C>G						PDGFC_uc003ipi.1_5'UTR|PDGFC_uc011cis.1_Intron|PDGFC_uc011cir.1_5'UTR	p.T71T	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	2	704	-	all_hematologic(180;0.24)	Renal(120;0.0458)	71			CUB.		B4DU34|B9EGR8|Q4W5M9|Q9UL22	Silent	SNP	ENST00000502773.1	37	c.213G>C	CCDS3795.1																																																																																				0.388	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			41	67	0	0	0	0	41	67				
SDHA	6389	broad.mit.edu	37	5	233625	233625	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:233625G>A	ENST00000264932.6	+	8	1044	c.929G>A	c.(928-930)gGa>gAa	p.G310E	SDHA_ENST00000510361.1_Missense_Mutation_p.G262E|SDHA_ENST00000504309.1_Missense_Mutation_p.G310E	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	310					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.G310E(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ATTACGGAAGGATGTCGTGGA	0.438									Familial Paragangliomas																													uc003jao.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(928-930)GGA>GAA		succinate dehydrogenase complex, subunit A,	Succinic acid(DB00139)						185.0	171.0	176.0					5																	233625		2203	4300	6503	SO:0001583	missense	6389	Familial_Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:233625G>A	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.929G>A	5.37:g.233625G>A	ENSP00000264932:p.Gly310Glu					SDHA_uc003jan.2_Missense_Mutation_p.G310E|SDHA_uc011clv.1_Missense_Mutation_p.G310E|SDHA_uc011clw.1_Missense_Mutation_p.G262E|SDHA_uc003jap.3_Missense_Mutation_p.G310E|SDHA_uc003jaq.3_Missense_Mutation_p.G85E|SDHA_uc003jar.3_5'UTR	p.G310E	NM_004168	NP_004159	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		8	1044	+			310					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.929G>A	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	16.54	3.151861	0.57151	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.45276	0.9;0.9;0.9	4.51	4.51	0.55191	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.74137	0.3677	H	0.95816	3.725	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.998;0.998;0.997;0.997	T	0.83186	-0.0086	10	0.87932	D	0	.	15.0787	0.72096	0.0:0.0:1.0:0.0	.	262;310;310;310;316	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	E	310;165;310;262	ENSP00000264932:G310E;ENSP00000426514:G310E;ENSP00000427703:G262E	ENSP00000264932:G310E	G	+	2	0	SDHA	286625	1.000000	0.71417	0.975000	0.42487	0.704000	0.40688	8.719000	0.91436	2.195000	0.70347	0.650000	0.86243	GGA		0.438	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		93	150	0	0	0	0	93	150				
CTNND2	1501	broad.mit.edu	37	5	11732259	11732259	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:11732259C>A	ENST00000304623.8	-	2	352	c.163G>T	c.(163-165)Gtc>Ttc	p.V55F	CTNND2_ENST00000359640.2_Missense_Mutation_p.V55F|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	55					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V55F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGTTCTTTGACTGAGGCGAGG	0.423																																						uc003jfa.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(163-165)GTC>TTC		catenin (cadherin-associated protein), delta 2							135.0	131.0	132.0					5																	11732259		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11732259C>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.163G>T	5.37:g.11732259C>A	ENSP00000307134:p.Val55Phe					CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	p.V55F	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			2	308	-			55			Potential.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.163G>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864616	0.91511	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000502551;ENST00000508761	D;D	0.88586	-2.25;-2.4	5.91	5.91	0.95273	.	0.000000	0.42172	D	0.000760	D	0.94430	0.8208	M	0.77103	2.36	0.80722	D	1	D	0.67145	0.996	D	0.72982	0.979	D	0.94538	0.7742	10	0.87932	D	0	-23.9408	17.7899	0.88548	0.0:1.0:0.0:0.0	.	55	Q9UQB3	CTND2_HUMAN	F	55;55;41;41	ENSP00000307134:V55F;ENSP00000352661:V55F	ENSP00000307134:V55F	V	-	1	0	CTNND2	11785259	1.000000	0.71417	0.959000	0.39883	0.969000	0.65631	7.219000	0.78000	2.796000	0.96246	0.643000	0.83706	GTC		0.423	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		66	104	1	0	2.15e-23	2.57e-23	66	104				
CDH10	1008	broad.mit.edu	37	5	24511507	24511507	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:24511507C>A	ENST00000264463.4	-	6	1438	c.931G>T	c.(931-933)Ggt>Tgt	p.G311C		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	311	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTACCGTCACCATCAATAATT	0.433										HNSCC(23;0.051)																												uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(931-933)GGT>TGT		cadherin 10, type 2 preproprotein							253.0	204.0	221.0					5																	24511507		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24511507C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.931G>T	5.37:g.24511507C>A	ENSP00000264463:p.Gly311Cys	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.G311C	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	6	1263	-			311			Cadherin 3.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.931G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944061	0.73672	.	.	ENSG00000040731	ENST00000264463	T	0.47528	0.84	5.22	5.22	0.72569	Cadherin (4);Cadherin-like (1);	0.052935	0.85682	D	0.000000	T	0.79446	0.4447	H	0.96398	3.815	0.52501	D	0.999951	D	0.89917	1.0	D	0.91635	0.999	D	0.86509	0.1808	10	0.87932	D	0	.	17.7511	0.88434	0.0:1.0:0.0:0.0	.	311	Q9Y6N8	CAD10_HUMAN	C	311	ENSP00000264463:G311C	ENSP00000264463:G311C	G	-	1	0	CDH10	24547264	0.997000	0.39634	1.000000	0.80357	0.876000	0.50452	3.672000	0.54583	2.410000	0.81850	0.650000	0.86243	GGT		0.433	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		87	161	1	0	1.8e-35	2.18e-35	87	161				
CDH9	1007	broad.mit.edu	37	5	26881576	26881576	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:26881576G>T	ENST00000231021.4	-	12	2211	c.2039C>A	c.(2038-2040)cCa>cAa	p.P680Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	680					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCTTGCCTCTGGATTCCTTAA	0.433																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(2038-2040)CCA>CAA		cadherin 9, type 2 preproprotein							194.0	189.0	191.0					5																	26881576		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881576G>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2039C>A	5.37:g.26881576G>T	ENSP00000231021:p.Pro680Gln					CDH9_uc011cnv.1_Missense_Mutation_p.P273Q	p.P680Q	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			12	2208	-			680			Cytoplasmic (Potential).		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.2039C>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949091	0.73787	.	.	ENSG00000113100	ENST00000231021	T	0.78126	-1.15	4.96	4.96	0.65561	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.89719	0.6796	M	0.88775	2.98	0.58432	D	0.999998	D;D	0.71674	0.989;0.998	D;D	0.79784	0.967;0.993	D	0.91286	0.5055	9	.	.	.	.	17.1426	0.86758	0.0:0.0:1.0:0.0	.	273;680	B4DFP0;Q9ULB4	.;CADH9_HUMAN	Q	680	ENSP00000231021:P680Q	.	P	-	2	0	CDH9	26917333	1.000000	0.71417	0.992000	0.48379	0.876000	0.50452	9.779000	0.99018	2.447000	0.82792	0.557000	0.71058	CCA		0.433	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		14	267	1	0	1.5e-05	1.66e-05	14	267				
C6	729	broad.mit.edu	37	5	41199909	41199909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:41199909C>A	ENST00000263413.3	-	4	670	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	C6_ENST00000337836.5_Nonsense_Mutation_p.E136*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	136					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.E136*(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCAGCCTCTTCAATTTTGCAG	0.428																																						uc003jmk.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(406-408)GAA>TAA		complement component 6 precursor							120.0	118.0	119.0					5																	41199909		2203	4300	6503	SO:0001587	stop_gained	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41199909C>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.406G>T	5.37:g.41199909C>A	ENSP00000263413:p.Glu136*					C6_uc003jml.1_Nonsense_Mutation_p.E136*	p.E136*	NM_000065	NP_000056	P13671	CO6_HUMAN			4	616	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	136						Nonsense_Mutation	SNP	ENST00000263413.3	37	c.406G>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	37	6.045054	0.97231	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	.	.	.	6.02	6.02	0.97574	.	0.154798	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-27.4876	19.3087	0.94175	0.0:1.0:0.0:0.0	.	.	.	.	X	136	.	ENSP00000263413:E136X	E	-	1	0	C6	41235666	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.191000	0.50981	2.857000	0.98124	0.650000	0.86243	GAA		0.428	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			5	154	1	0	0.000602214	0.000650585	5	154				
HTR1A	3350	broad.mit.edu	37	5	63256897	63256897	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:63256897C>T	ENST00000323865.3	-	1	883	c.650G>A	c.(649-651)cGc>cAc	p.R217H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	217					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCGGAATATGCGCCCATAGAG	0.587																																						uc011cqt.1		NA																	0				ovary(2)|pancreas(2)	4						c.(649-651)CGC>CAC		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						92.0	103.0	99.0					5																	63256897		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256897C>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.650G>A	5.37:g.63256897C>T	ENSP00000316244:p.Arg217His						p.R217H	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	650	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	217			Helical; Name=5; (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.650G>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336965	0.81801	.	.	ENSG00000178394	ENST00000323865	T	0.39056	1.1	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.197923	0.43919	D	0.000519	T	0.64427	0.2597	M	0.81614	2.55	0.58432	D	0.999999	D	0.89917	1.0	D	0.69824	0.966	T	0.68236	-0.5462	10	0.87932	D	0	.	12.1821	0.54218	0.0:0.9226:0.0:0.0774	.	217	P08908	5HT1A_HUMAN	H	217	ENSP00000316244:R217H	ENSP00000316244:R217H	R	-	2	0	HTR1A	63292653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.091000	0.71406	2.692000	0.91855	0.655000	0.94253	CGC		0.587	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		5	186	0	0	0	0	5	186				
KCNN2	3781	broad.mit.edu	37	5	113699624	113699624	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:113699624C>T	ENST00000512097.3	+	3	1526	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L	KCNN2_ENST00000264773.3_Silent_p.L170L|KCNN2_ENST00000507750.1_3'UTR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	170					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.L170L(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	TTCCTTAGCTCTGAAATGCCT	0.483																																						uc003kqo.2		NA																	2	Substitution - coding silent(2)		upper_aerodigestive_tract(2)	ovary(2)	2						c.(508-510)CTG>TTG		small conductance calcium-activated potassium							225.0	183.0	197.0					5																	113699624		2202	4300	6502	SO:0001819	synonymous_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113699624C>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.508C>T	5.37:g.113699624C>T							p.L170L	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	965	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	170			Helical; Name=Segment S2; (Potential).		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	c.508C>T	CCDS4114.1																																																																																				0.483	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		43	84	0	0	0	0	43	84				
CEP120	153241	broad.mit.edu	37	5	122682331	122682331	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:122682331A>G	ENST00000306467.5	-	20	3147	c.2843T>C	c.(2842-2844)cTg>cCg	p.L948P	CEP120_ENST00000328236.5_Missense_Mutation_p.L948P|CEP120_ENST00000306481.6_Missense_Mutation_p.L922P			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	948					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TTCTTCTATCAGGCGAGTCAA	0.418																																						uc003ktk.2		NA																	0				ovary(1)	1						c.(2842-2844)CTG>CCG		coiled-coil domain containing 100							186.0	186.0	186.0					5																	122682331		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122682331A>G	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2843T>C	5.37:g.122682331A>G	ENSP00000303058:p.Leu948Pro					CEP120_uc011cwq.1_Missense_Mutation_p.L757P	p.L948P	NM_153223	NP_694955	Q8N960	CE120_HUMAN			21	2925	-			948					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.2843T>C	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954464	0.73902	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481	T;T;T	0.38401	1.14;1.14;1.14	5.43	5.43	0.79202	.	0.000000	0.51477	U	0.000091	T	0.58235	0.2108	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61926	-0.6962	10	0.87932	D	0	-5.9507	15.479	0.75508	1.0:0.0:0.0:0.0	.	948	Q8N960	CE120_HUMAN	P	948;948;922	ENSP00000303058:L948P;ENSP00000327504:L948P;ENSP00000307419:L922P	ENSP00000303058:L948P	L	-	2	0	CEP120	122710230	1.000000	0.71417	0.895000	0.35142	0.951000	0.60555	7.711000	0.84669	2.065000	0.61736	0.533000	0.62120	CTG		0.418	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		4	290	0	0	0	0	4	290				
PCDHGA1	56114	broad.mit.edu	37	5	140711638	140711638	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:140711638G>A	ENST00000517417.1	+	1	1387	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E463K|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	463	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E463K(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACATTCCCGAAAACAACCC	0.468																																						uc003lji.1		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(1387-1389)GAA>AAA		protocadherin gamma subfamily A, 1 isoform 1							114.0	123.0	120.0					5																	140711638		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140711638G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1387G>A	5.37:g.140711638G>A	ENSP00000431083:p.Glu463Lys					PCDHGA1_uc011dan.1_Missense_Mutation_p.E463K	p.E463K	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1387	+			463			Extracellular (Potential).|Cadherin 5.		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.1387G>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568013	0.86439	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.76316	-1.01;-1.01	3.94	3.94	0.45596	Cadherin (4);Cadherin-like (1);	0.000000	0.47093	U	0.000249	D	0.92867	0.7731	H	0.99058	4.415	0.39497	D	0.968148	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96369	0.9272	10	0.87932	D	0	.	16.1551	0.81657	0.0:0.0:1.0:0.0	.	463;463	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	K	463	ENSP00000431083:E463K;ENSP00000367345:E463K	ENSP00000367345:E463K	E	+	1	0	PCDHGA1	140691822	1.000000	0.71417	0.865000	0.33974	0.970000	0.65996	7.767000	0.85331	2.198000	0.70561	0.650000	0.86243	GAA		0.468	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		68	123	0	0	0	0	68	123				
C5orf58	133874	broad.mit.edu	37	5	169673114	169673114	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:169673114C>G	ENST00000521850.1	+	3	1995	c.306C>G	c.(304-306)atC>atG	p.I102M	C5orf58_ENST00000517575.1_Intron|C5orf58_ENST00000593851.1_Missense_Mutation_p.I102M			C9J3I9	CE058_HUMAN	chromosome 5 open reading frame 58	102										large_intestine(1)|lung(4)|urinary_tract(1)	6						GTTTTTCTATCTGATTTCTTA	0.294																																						uc010jjn.2		NA																	0					0						c.(304-306)ATC>ATG		hypothetical protein LOC133874							89.0	89.0	89.0					5																	169673114		1794	4069	5863	SO:0001583	missense	133874							g.chr5:169673114C>G	BC030767	CCDS47338.1	5q35.1	2009-09-30			ENSG00000234511	ENSG00000234511			37272	protein-coding gene	gene with protein product							Standard	NM_001102609		Approved		uc010jjn.3	C9J3I9	OTTHUMG00000163122	ENST00000521850.1:c.306C>G	5.37:g.169673114C>G	ENSP00000428956:p.Ile102Met					C5orf58_uc003mal.2_Intron	p.I102M	NM_001102609	NP_001096079	C9J3I9	CE058_HUMAN			4	389	+			102						Missense_Mutation	SNP	ENST00000521850.1	37	c.306C>G	CCDS47338.1	.	.	.	.	.	.	.	.	.	.	C	6.204	0.405784	0.11754	.	.	ENSG00000234511	ENST00000521850	.	.	.	5.55	0.321	0.15883	.	.	.	.	.	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23261	-1.0193	8	0.28530	T	0.3	.	4.613	0.12411	0.0:0.4345:0.3072:0.2583	.	102	C9J3I9	CE058_HUMAN	M	102	.	ENSP00000428956:I102M	I	+	3	3	C5orf58	169605692	0.000000	0.05858	0.001000	0.08648	0.132000	0.20833	-0.693000	0.05121	0.133000	0.18654	-0.127000	0.14921	ATC		0.294	C5orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371739.1	NM_001102609		3	75	0	0	0	0	3	75				
RUFY1	80230	broad.mit.edu	37	5	178987158	178987158	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:178987158T>C	ENST00000319449.4	+	2	455	c.443T>C	c.(442-444)tTc>tCc	p.F148S	RUFY1_ENST00000377001.2_Missense_Mutation_p.F148S|RUFY1_ENST00000437570.2_Missense_Mutation_p.F40S|RUFY1_ENST00000393438.2_Missense_Mutation_p.F40S	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	148	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				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)	p.F40S(1)		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)			TTGCAGCAGTTCTTTGTAGTG	0.572										HNSCC(44;0.11)																												uc003mka.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(4)|breast(1)	5						c.(442-444)TTC>TCC		RUN and FYVE domain-containing 1 isoform a							52.0	50.0	51.0					5																	178987158		2203	4300	6503	SO:0001583	missense	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:178987158T>C	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.443T>C	5.37:g.178987158T>C	ENSP00000325594:p.Phe148Ser	HNSCC(44;0.11)				RUFY1_uc003mkb.1_Missense_Mutation_p.F40S|RUFY1_uc003mkc.1_Missense_Mutation_p.F40S	p.F148S	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	443	+	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)	148			RUN.		Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	c.443T>C	CCDS4445.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	34|34	5.298396|5.298396	0.95574|0.95574	.|.	.|.	ENSG00000176783|ENSG00000176783	ENST00000319449;ENST00000377001;ENST00000437570;ENST00000393438|ENST00000502984	T;T;T;T|.	0.34859|.	1.34;1.34;1.34;1.34|.	5.56|5.56	5.56|5.56	0.83823|0.83823	RUN (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83069|0.83069	0.5174|0.5174	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.86157|0.86157	0.1591|0.1591	10|5	0.87932|.	D|.	0|.	-18.1594|-18.1594	15.7239|15.7239	0.77736|0.77736	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	148|.	Q96T51|.	RUFY1_HUMAN|.	S|P	148;148;40;40|106	ENSP00000325594:F148S;ENSP00000366200:F148S;ENSP00000390025:F40S;ENSP00000377087:F40S|.	ENSP00000325594:F148S|.	F|S	+|+	2|1	0|0	RUFY1|RUFY1	178919764|178919764	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.884000|0.884000	0.51177|0.51177	7.905000|7.905000	0.87416|0.87416	2.128000|2.128000	0.65567|0.65567	0.459000|0.459000	0.35465|0.35465	TTC|TCT		0.572	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		14	25	0	0	0	0	14	25				
MAML1	9794	broad.mit.edu	37	5	179201801	179201801	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:179201801C>T	ENST00000292599.3	+	5	3237	c.2974C>T	c.(2974-2976)Ctg>Ttg	p.L992L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACACACCGATCTGATCGACTC	0.557																																						uc003mkm.2		NA																	0				lung(4)|ovary(2)	6						c.(2974-2976)CTG>TTG		mastermind-like 1							89.0	83.0	85.0					5																	179201801		2203	4300	6503	SO:0001819	synonymous_variant	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179201801C>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2974C>T	5.37:g.179201801C>T						MAML1_uc003mkn.1_Intron	p.L992L	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	3237	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	992						Silent	SNP	ENST00000292599.3	37	c.2974C>T	CCDS34315.1																																																																																				0.557	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		5	107	0	0	0	0	5	107				
PRPF4B	8899	broad.mit.edu	37	6	4032653	4032653	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:4032653A>G	ENST00000337659.6	+	2	1002	c.902A>G	c.(901-903)aAa>aGa	p.K301R	PRPF4B_ENST00000538861.1_Missense_Mutation_p.K287R	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	301	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K301R(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TTAAGAGGTAAATCCAAAGAC	0.353																																						uc003mvv.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	breast(5)	5						c.(901-903)AAA>AGA		serine/threonine-protein kinase PRP4K							74.0	82.0	79.0					6																	4032653		2200	4298	6498	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4032653A>G	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.902A>G	6.37:g.4032653A>G	ENSP00000337194:p.Lys301Arg					PRPF4B_uc011dhv.1_RNA	p.K301R	NM_003913	NP_003904	Q13523	PRP4B_HUMAN			2	993	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	301			Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.902A>G	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.583551	0.65992	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.69685	-0.42;-0.4	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.63153	0.2487	L	0.38838	1.175	0.49483	D	0.99979	P	0.52842	0.956	P	0.62184	0.899	T	0.60352	-0.7280	10	0.19147	T	0.46	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	301	Q13523	PRP4B_HUMAN	R	301;287	ENSP00000337194:K301R;ENSP00000439331:K287R	ENSP00000337194:K301R	K	+	2	0	PRPF4B	3977652	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	3.678000	0.54627	2.251000	0.74343	0.528000	0.53228	AAA		0.353	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			122	30	0	0	0	0	122	30				
PRPF4B	8899	broad.mit.edu	37	6	4044117	4044117	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:4044117C>T	ENST00000337659.6	+	6	1821	c.1721C>T	c.(1720-1722)aCg>aTg	p.T574M	PRPF4B_ENST00000538861.1_Missense_Mutation_p.T560M	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	574					mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T574M(1)|p.T63M(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CAGAGCAGTACGAGAACACGA	0.418																																						uc003mvv.2		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	breast(5)	5						c.(1720-1722)ACG>ATG		serine/threonine-protein kinase PRP4K							93.0	87.0	89.0					6																	4044117		2203	4300	6503	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4044117C>T	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1721C>T	6.37:g.4044117C>T	ENSP00000337194:p.Thr574Met					PRPF4B_uc003mvw.2_RNA|PRPF4B_uc011dhv.1_RNA	p.T574M	NM_003913	NP_003904	Q13523	PRP4B_HUMAN			6	1812	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	574					A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.1721C>T	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.917132	0.73098	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.69306	-0.38;-0.39	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.69672	0.3137	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.63192	0.912	T	0.69327	-0.5174	10	0.48119	T	0.1	.	19.451	0.94867	0.0:1.0:0.0:0.0	.	574	Q13523	PRP4B_HUMAN	M	574;560	ENSP00000337194:T574M;ENSP00000439331:T560M	ENSP00000337194:T574M	T	+	2	0	PRPF4B	3989116	1.000000	0.71417	0.436000	0.26797	0.989000	0.77384	5.649000	0.67936	2.671000	0.90904	0.650000	0.86243	ACG		0.418	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			60	20	0	0	0	0	60	20				
PRRC2A	7916	broad.mit.edu	37	6	31605326	31605326	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:31605326G>A	ENST00000376033.2	+	31	6671	c.6437G>A	c.(6436-6438)cGa>cAa	p.R2146Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R2146Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2146						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCTGGGTCCCGAGGGGACAAG	0.632																																						uc003nvb.3		NA																	0					0						c.(6436-6438)CGA>CAA		HLA-B associated transcript-2							33.0	42.0	39.0					6																	31605326		1509	2706	4215	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31605326G>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.6437G>A	6.37:g.31605326G>A	ENSP00000365201:p.Arg2146Gln					BAT2_uc003nvc.3_Missense_Mutation_p.R2146Q	p.R2146Q	NM_080686	NP_542417	P48634	PRC2A_HUMAN			31	6686	+			2146					B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.6437G>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033882	0.35893	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01745	4.66;4.66	6.01	3.23	0.37069	.	0.154150	0.30584	N	0.009318	T	0.00552	0.0018	N	0.19112	0.55	0.27999	N	0.935376	B	0.06786	0.001	B	0.04013	0.001	T	0.49173	-0.8967	10	0.87932	D	0	-1.8692	8.3622	0.32365	0.0792:0.296:0.6248:0.0	.	2146	P48634	PRC2A_HUMAN	Q	2138;2127;2146;2146;1371	ENSP00000365175:R2146Q;ENSP00000365201:R2146Q	ENSP00000365175:R2146Q	R	+	2	0	PRRC2A	31713305	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.963000	0.49184	0.416000	0.25844	-0.165000	0.13383	CGA		0.632	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		6	84	0	0	0	0	6	84				
TREML2	79865	broad.mit.edu	37	6	41162432	41162432	+	Silent	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:41162432G>C	ENST00000483722.1	-	3	701	c.516C>G	c.(514-516)ctC>ctG	p.L172L		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	172					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAAGGTGATGAGTCCTGGGG	0.577																																						uc010jxm.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(514-516)CTC>CTG		triggering receptor expressed on myeloid							161.0	124.0	136.0					6																	41162432		2203	4300	6503	SO:0001819	synonymous_variant	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41162432G>C	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.516C>G	6.37:g.41162432G>C							p.L172L	NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN			3	695	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		172			Extracellular (Potential).		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	ENST00000483722.1	37	c.516C>G	CCDS4853.2																																																																																				0.577	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		7	40	0	0	0	0	7	40				
DEFB114	245928	broad.mit.edu	37	6	49928019	49928019	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:49928019C>G	ENST00000322066.3	-	2	195	c.196G>C	c.(196-198)Gat>Cat	p.D66H		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	66					defense response to bacterium (GO:0042742)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)	p.D66H(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					AACATATCATCTTCTTCATAC	0.358																																						uc011dwp.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(196-198)GAT>CAT		beta-defensin 114 precursor							92.0	85.0	88.0					6																	49928019		2203	4299	6502	SO:0001583	missense	245928				defense response to bacterium	extracellular region		g.chr6:49928019C>G	DQ012018	CCDS34474.1	6p12.3	2010-03-30			ENSG00000177684	ENSG00000177684		"""Defensins, beta"""	18095	protein-coding gene	gene with protein product		615243				11854508, 16033865	Standard	NM_001037499		Approved	DEFB-14	uc011dwp.2	Q30KQ6	OTTHUMG00000160209	ENST00000322066.3:c.196G>C	6.37:g.49928019C>G	ENSP00000312702:p.Asp66His						p.D66H	NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN			2	196	-	Lung NSC(77;0.042)		66					Q8NES9	Missense_Mutation	SNP	ENST00000322066.3	37	c.196G>C	CCDS34474.1	.	.	.	.	.	.	.	.	.	.	C	5.824	0.336315	0.11013	.	.	ENSG00000177684	ENST00000322066	.	.	.	3.4	1.57	0.23409	.	0.420127	0.17569	N	0.169529	T	0.12220	0.0297	.	.	.	0.09310	N	1	P	0.48911	0.917	B	0.44044	0.439	T	0.07046	-1.0793	7	.	.	.	.	4.1225	0.10112	0.229:0.6477:0.0:0.1233	.	66	Q30KQ6	DB114_HUMAN	H	66	.	.	D	-	1	0	DEFB114	50035978	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.197000	0.17197	0.435000	0.26365	-0.911000	0.02809	GAT		0.358	DEFB114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359665.1	NM_001037499		17	39	0	0	0	0	17	39				
SENP6	26054	broad.mit.edu	37	6	76376512	76376512	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:76376512G>C	ENST00000447266.2	+	10	1557	c.1079G>C	c.(1078-1080)tGt>tCt	p.C360S	SENP6_ENST00000370014.3_Missense_Mutation_p.C360S|SENP6_ENST00000370010.2_Missense_Mutation_p.C353S|SENP6_ENST00000541192.1_5'Flank|SENP6_ENST00000327284.8_Missense_Mutation_p.C353S	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	360					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GATTCAGCATGTTCTTCCCCT	0.423																																						uc003pid.3		NA																	0				breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6						c.(1078-1080)TGT>TCT		SUMO1/sentrin specific peptidase 6 isoform 1							99.0	99.0	99.0					6																	76376512		1945	4158	6103	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76376512G>C		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1079G>C	6.37:g.76376512G>C	ENSP00000402527:p.Cys360Ser					SENP6_uc003pie.3_Missense_Mutation_p.C353S|SENP6_uc010kbf.2_RNA|SENP6_uc003pic.2_Missense_Mutation_p.C353S|SENP6_uc003pif.1_Missense_Mutation_p.C251S	p.C360S	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN			10	1698	+		all_hematologic(105;0.189)	360					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.1079G>C	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637885	0.29157	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000424947	T;T;T;T;T	0.30448	2.75;2.75;1.53;2.75;1.54	5.32	4.43	0.53597	.	0.180283	0.64402	D	0.000009	T	0.21718	0.0523	L	0.50333	1.59	0.80722	D	1	P;P;P	0.43352	0.804;0.704;0.804	B;B;P	0.45558	0.408;0.231;0.485	T	0.01024	-1.1477	10	0.27785	T	0.31	-11.6446	13.7222	0.62735	0.0743:0.0:0.9257:0.0	.	353;360;353	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	S	353;360;209;353;360;250	ENSP00000359027:C353S;ENSP00000359031:C360S;ENSP00000321820:C353S;ENSP00000402527:C360S;ENSP00000391426:C250S	ENSP00000321820:C353S	C	+	2	0	SENP6	76433232	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	4.576000	0.60915	2.656000	0.90262	0.650000	0.86243	TGT		0.423	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		20	87	0	0	0	0	20	87				
IBTK	25998	broad.mit.edu	37	6	82923970	82923970	+	Silent	SNP	T	T	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:82923970T>C	ENST00000306270.7	-	12	2727	c.2178A>G	c.(2176-2178)aaA>aaG	p.K726K	IBTK_ENST00000510291.1_Silent_p.K726K|IBTK_ENST00000503631.1_Intron	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	726					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.K726K(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGAAGTCGAATTTCTTTGCAA	0.353																																						uc003pjl.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(2)|central_nervous_system(2)	4						c.(2176-2178)AAA>AAG		inhibitor of Bruton's tyrosine kinase							101.0	107.0	105.0					6																	82923970		2203	4300	6503	SO:0001819	synonymous_variant	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82923970T>C	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2178A>G	6.37:g.82923970T>C						IBTK_uc011dyv.1_Silent_p.K726K|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Silent_p.K420K|IBTK_uc003pjm.2_Silent_p.K726K	p.K726K	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	12	2705	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	726					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Silent	SNP	ENST00000306270.7	37	c.2178A>G	CCDS34490.1																																																																																				0.353	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		42	69	0	0	0	0	42	69				
CDC40	51362	broad.mit.edu	37	6	110530349	110530349	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:110530349G>T	ENST00000368932.1	+	6	654	c.553G>T	c.(553-555)Gat>Tat	p.D185Y	CDC40_ENST00000368930.1_Missense_Mutation_p.D185Y|CDC40_ENST00000307731.1_Missense_Mutation_p.D185Y			O60508	PRP17_HUMAN	cell division cycle 40	185					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TAAAGAAAATGATGCATCCAA	0.299																																						uc003pua.2		NA																	0					0						c.(553-555)GAT>TAT		cell division cycle 40 homolog							101.0	100.0	100.0					6																	110530349		2203	4299	6502	SO:0001583	missense	51362				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		g.chr6:110530349G>T	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.553G>T	6.37:g.110530349G>T	ENSP00000357928:p.Asp185Tyr						p.D185Y	NM_015891	NP_056975	O60508	PRP17_HUMAN		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)	5	577	+		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	185					B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	c.553G>T	CCDS5081.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.267257|4.267257	0.80469|0.80469	.|.	.|.	ENSG00000168438|ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731|ENST00000431461	T;T;T;T|.	0.66280|.	-0.03;-0.2;-0.2;-0.03|.	5.68|5.68	4.82|4.82	0.62117|0.62117	.|.	0.089403|.	0.85682|.	D|.	0.000000|.	T|.	0.70771|.	0.3262|.	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	P|.	0.62813|.	0.907|.	T|.	0.75022|.	-0.3464|.	10|.	0.87932|.	D|.	0|.	-17.5007|-17.5007	14.7512|14.7512	0.69528|0.69528	0.0696:0.0:0.9304:0.0|0.0696:0.0:0.9304:0.0	.|.	185|.	O60508|.	PRP17_HUMAN|.	Y|L	185|77	ENSP00000357928:D185Y;ENSP00000357929:D185Y;ENSP00000357926:D185Y;ENSP00000304370:D185Y|.	ENSP00000304370:D185Y|.	D|X	+|+	1|2	0|2	CDC40|CDC40	110637042|110637042	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.397000|9.397000	0.97276|0.97276	1.412000|1.412000	0.46977|0.46977	0.557000|0.557000	0.71058|0.71058	GAT|TGA		0.299	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891		6	70	1	0	5.94e-07	6.71e-07	6	70				
CCDC170	80129	broad.mit.edu	37	6	151894461	151894461	+	Missense_Mutation	SNP	G	G	C	rs574393508		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:151894461G>C	ENST00000239374.7	+	6	1026	c.927G>C	c.(925-927)ttG>ttC	p.L309F	CCDC170_ENST00000367290.5_Missense_Mutation_p.L309F	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	309																	AGAAGAGTTTGAAGGCCAGTC	0.512																																						uc003qol.2		NA																	0					0						c.(925-927)TTG>TTC		hypothetical protein LOC80129							83.0	88.0	86.0					6																	151894461		1979	4163	6142	SO:0001583	missense	80129							g.chr6:151894461G>C	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.927G>C	6.37:g.151894461G>C	ENSP00000239374:p.Leu309Phe						p.L309F	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	6	1016	+		Ovarian(120;0.126)	309					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.927G>C	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	9.085	1.000211	0.19121	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.14144	2.53;2.53	5.36	2.57	0.30868	.	0.088342	0.42682	D	0.000662	T	0.07638	0.0192	M	0.77616	2.38	0.49051	D	0.999749	P	0.42827	0.791	B	0.40101	0.319	T	0.11494	-1.0585	10	0.32370	T	0.25	-1.8383	7.5348	0.27704	0.1466:0.1356:0.7178:0.0	.	309	Q8IYT3	CF097_HUMAN	F	309	ENSP00000239374:L309F;ENSP00000356259:L309F	ENSP00000239374:L309F	L	+	3	2	C6orf97	151936154	1.000000	0.71417	0.095000	0.20976	0.065000	0.16274	1.748000	0.38308	0.324000	0.23333	0.643000	0.83706	TTG		0.512	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		3	72	0	0	0	0	3	72				
THSD7A	221981	broad.mit.edu	37	7	11468681	11468681	+	Missense_Mutation	SNP	G	G	A	rs370952825		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:11468681G>A	ENST00000423059.4	-	14	3387	c.3136C>T	c.(3136-3138)Cgc>Tgc	p.R1046C	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1046	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1046C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTGCTGCAGCGCGACCAGTTG	0.517										HNSCC(18;0.044)																												uc003ssf.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(3)	3						c.(3136-3138)CGC>TGC		thrombospondin, type I, domain containing 7A		G	CYS/ARG	0,4106		0,0,2053	175.0	175.0	175.0		3136	4.4	0.9	7		175	1,8375		0,1,4187	no	missense	THSD7A	NM_015204.2	180	0,1,6240	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	1046/1658	11468681	1,12481	2053	4188	6241	SO:0001583	missense	221981					integral to membrane		g.chr7:11468681G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3136C>T	7.37:g.11468681G>A	ENSP00000406482:p.Arg1046Cys	HNSCC(18;0.044)					p.R1046C	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	14	3388	-			1046			TSP type-1 11.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.3136C>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393138	0.83011	0.0	1.19E-4	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.53640	0.61	5.28	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.66472	-0.5915	10	0.66056	D	0.02	.	15.6947	0.77488	0.0:0.0:0.8623:0.1377	.	1046	Q9UPZ6	THS7A_HUMAN	C	1046	ENSP00000406482:R1046C	ENSP00000262042:R1046C	R	-	1	0	THSD7A	11435206	1.000000	0.71417	0.864000	0.33941	0.988000	0.76386	7.927000	0.87577	1.324000	0.45282	0.655000	0.94253	CGC		0.517	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		110	166	0	0	0	0	110	166				
THSD7A	221981	broad.mit.edu	37	7	11676072	11676072	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:11676072G>A	ENST00000423059.4	-	2	958	c.707C>T	c.(706-708)aCg>aTg	p.T236M	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	236	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGGAACTCCGTCAGGTTTGG	0.657										HNSCC(18;0.044)																												uc003ssf.3		NA																	0				ovary(3)	3						c.(706-708)ACG>ATG		thrombospondin, type I, domain containing 7A							32.0	32.0	32.0					7																	11676072		2060	4207	6267	SO:0001583	missense	221981					integral to membrane		g.chr7:11676072G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.707C>T	7.37:g.11676072G>A	ENSP00000406482:p.Thr236Met	HNSCC(18;0.044)					p.T236M	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	959	-			236			Extracellular (Potential).|TSP type-1 2.			Missense_Mutation	SNP	ENST00000423059.4	37	c.707C>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932674	0.73442	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.54675	0.56	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.71651	0.3365	M	0.67569	2.06	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	T	0.68379	-0.5424	10	0.40728	T	0.16	.	20.0333	0.97547	0.0:0.0:1.0:0.0	.	236	Q9UPZ6	THS7A_HUMAN	M	236	ENSP00000406482:T236M	ENSP00000262042:T236M	T	-	2	0	THSD7A	11642597	1.000000	0.71417	0.991000	0.47740	0.330000	0.28571	9.813000	0.99286	2.810000	0.96702	0.585000	0.79938	ACG		0.657	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		4	38	0	0	0	0	4	38				
SAMD9L	219285	broad.mit.edu	37	7	92764127	92764127	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:92764127C>A	ENST00000318238.4	-	5	2374	c.1158G>T	c.(1156-1158)atG>atT	p.M386I	SAMD9L_ENST00000411955.1_Missense_Mutation_p.M386I|SAMD9L_ENST00000437805.1_Missense_Mutation_p.M386I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	386					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCATTGCCTTCATTCCATACT	0.393																																						uc003umh.1		NA																	0				ovary(4)	4						c.(1156-1158)ATG>ATT		sterile alpha motif domain containing 9-like							176.0	184.0	181.0					7																	92764127		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92764127C>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1158G>T	7.37:g.92764127C>A	ENSP00000326247:p.Met386Ile					SAMD9L_uc003umj.1_Missense_Mutation_p.M386I|SAMD9L_uc003umi.1_Missense_Mutation_p.M386I|SAMD9L_uc010lfb.1_Missense_Mutation_p.M386I|SAMD9L_uc003umk.1_Missense_Mutation_p.M386I|SAMD9L_uc010lfc.1_Missense_Mutation_p.M386I|SAMD9L_uc010lfd.1_Missense_Mutation_p.M386I|SAMD9L_uc011khx.1_Intron	p.M386I	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	2374	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		386					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1158G>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	1.099	-0.661621	0.03454	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.13420	2.59;2.59;2.59	4.74	1.62	0.23740	.	1.074910	0.07290	N	0.872280	T	0.06508	0.0167	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42498	-0.9448	10	0.08179	T	0.78	0.4322	3.5344	0.07789	0.0:0.407:0.1935:0.3995	.	386	Q8IVG5	SAM9L_HUMAN	I	386	ENSP00000326247:M386I;ENSP00000405760:M386I;ENSP00000408796:M386I	ENSP00000326247:M386I	M	-	3	0	SAMD9L	92602063	0.000000	0.05858	0.001000	0.08648	0.272000	0.26649	-0.373000	0.07494	0.575000	0.29434	0.460000	0.39030	ATG		0.393	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		34	349	1	0	2.85e-18	3.37e-18	34	349				
SAMD9L	219285	broad.mit.edu	37	7	92764780	92764780	+	Missense_Mutation	SNP	C	C	G	rs144605831	byFrequency	TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:92764780C>G	ENST00000318238.4	-	5	1721	c.505G>C	c.(505-507)Gat>Cat	p.D169H	SAMD9L_ENST00000411955.1_Missense_Mutation_p.D169H|SAMD9L_ENST00000437805.1_Missense_Mutation_p.D169H	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	169					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGGAACTGATCAAAAGGATAT	0.363																																						uc003umh.1		NA																	0				ovary(4)	4						c.(505-507)GAT>CAT		sterile alpha motif domain containing 9-like		C	HIS/ASP	0,4406		0,0,2203	268.0	268.0	268.0		505	3.1	1.0	7	dbSNP_134	268	4,8596	3.7+/-12.6	0,4,4296	yes	missense	SAMD9L	NM_152703.2	81	0,4,6499	GG,GC,CC		0.0465,0.0,0.0308	probably-damaging	169/1585	92764780	4,13002	2203	4300	6503	SO:0001583	missense	219285							g.chr7:92764780C>G	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.505G>C	7.37:g.92764780C>G	ENSP00000326247:p.Asp169His					SAMD9L_uc003umj.1_Missense_Mutation_p.D169H|SAMD9L_uc003umi.1_Missense_Mutation_p.D169H|SAMD9L_uc010lfb.1_Missense_Mutation_p.D169H|SAMD9L_uc003umk.1_Missense_Mutation_p.D169H|SAMD9L_uc010lfc.1_Missense_Mutation_p.D169H|SAMD9L_uc010lfd.1_Missense_Mutation_p.D169H|SAMD9L_uc011khx.1_Intron	p.D169H	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	1721	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		169					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.505G>C	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129851	0.56721	0.0	4.65E-4	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.15603	2.41;2.41;2.41	4.95	3.12	0.35913	.	0.246506	0.32624	N	0.005856	T	0.34337	0.0894	L	0.58101	1.795	0.44643	D	0.997629	D	0.89917	1.0	D	0.69824	0.966	T	0.04053	-1.0981	10	0.72032	D	0.01	-11.8179	11.2146	0.48819	0.0:0.8467:0.0:0.1533	.	169	Q8IVG5	SAM9L_HUMAN	H	169	ENSP00000326247:D169H;ENSP00000405760:D169H;ENSP00000408796:D169H	ENSP00000326247:D169H	D	-	1	0	SAMD9L	92602716	1.000000	0.71417	0.952000	0.39060	0.372000	0.29890	1.942000	0.40243	0.656000	0.30886	0.460000	0.39030	GAT		0.363	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		18	231	0	0	0	0	18	231				
PLOD3	8985	broad.mit.edu	37	7	100859263	100859263	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:100859263G>A	ENST00000223127.3	-	5	939	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	ZNHIT1_ENST00000305105.2_5'Flank	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	181					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.R181C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	TTCCACTGGCGCACGATTTGG	0.617																																						uc003uyd.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|skin(1)	2						c.(541-543)CGC>TGC		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)						161.0	139.0	146.0					7																	100859263		2203	4300	6503	SO:0001583	missense	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100859263G>A	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.541C>T	7.37:g.100859263G>A	ENSP00000223127:p.Arg181Cys					ZNHIT1_uc003uye.2_5'Flank|ZNHIT1_uc003uyf.2_5'Flank	p.R181C	NM_001084	NP_001075	O60568	PLOD3_HUMAN			5	997	-	Lung NSC(181;0.168)|all_lung(186;0.215)		181					B2R6W6|Q540C3	Missense_Mutation	SNP	ENST00000223127.3	37	c.541C>T	CCDS5715.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456727	0.63401	.	.	ENSG00000106397	ENST00000223127;ENST00000541462	T	0.22539	1.95	5.23	4.34	0.51931	.	0.129739	0.53938	D	0.000053	T	0.21387	0.0515	L	0.29908	0.895	0.31949	N	0.609958	D	0.54397	0.966	P	0.48677	0.586	T	0.15407	-1.0438	10	0.62326	D	0.03	-11.2366	11.3055	0.49332	0.0:0.0:0.8186:0.1814	.	181	O60568	PLOD3_HUMAN	C	181;85	ENSP00000223127:R181C	ENSP00000223127:R181C	R	-	1	0	PLOD3	100645983	0.007000	0.16637	0.919000	0.36401	0.807000	0.45602	1.267000	0.33050	1.170000	0.42753	0.561000	0.74099	CGC		0.617	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			34	61	0	0	0	0	34	61				
FOXP2	93986	broad.mit.edu	37	7	114299704	114299704	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:114299704C>G	ENST00000393494.2	+	13	1902	c.1623C>G	c.(1621-1623)ttC>ttG	p.F541L	FOXP2_ENST00000393498.2_Missense_Mutation_p.F520L|FOXP2_ENST00000393489.3_Missense_Mutation_p.F449L|FOXP2_ENST00000393491.3_Missense_Mutation_p.F356L|FOXP2_ENST00000408937.3_Missense_Mutation_p.F566L|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.F541L|FOXP2_ENST00000403559.4_Missense_Mutation_p.F558L			O15409	FOXP2_HUMAN	forkhead box P2	541					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTGCTTACTTCAGGCGTAATG	0.393																																						uc003vhb.2		NA																	0				ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(1621-1623)TTC>TTG		forkhead box P2 isoform I							137.0	129.0	132.0					7																	114299704		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114299704C>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1623C>G	7.37:g.114299704C>G	ENSP00000377132:p.Phe541Leu					FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.F566L|FOXP2_uc003vha.2_Missense_Mutation_p.F449L|FOXP2_uc011kmu.1_Missense_Mutation_p.F558L|FOXP2_uc011kmv.1_Missense_Mutation_p.F540L|FOXP2_uc010ljz.1_Missense_Mutation_p.F356L|FOXP2_uc003vhe.1_Missense_Mutation_p.F111L	p.F541L	NM_014491	NP_055306	O15409	FOXP2_HUMAN			13	1997	+			541			Fork-head.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1623C>G	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814697	0.50527	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86;-3.86;-3.86	6.06	6.06	0.98353	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.98563	0.9520	H	0.95004	3.61	0.80722	D	1	D;D;D;D;P	0.89917	0.963;0.963;1.0;0.963;0.954	D;D;D;D;D	0.87578	0.95;0.966;0.998;0.95;0.943	D	0.98810	1.0743	10	0.87932	D	0	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	540;558;356;541;566	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	L	541;566;558;541;518;449;356	ENSP00000377132:F541L;ENSP00000386200:F566L;ENSP00000385069:F558L;ENSP00000265436:F541L;ENSP00000377129:F449L;ENSP00000377130:F356L	ENSP00000265436:F541L	F	+	3	2	FOXP2	114086940	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.085000	0.71343	2.879000	0.98667	0.650000	0.86243	TTC		0.393	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		4	127	0	0	0	0	4	127				
PTPRZ1	5803	broad.mit.edu	37	7	121653325	121653325	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:121653325G>T	ENST00000393386.2	+	12	4636	c.4225G>T	c.(4225-4227)Gat>Tat	p.D1409Y	PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1409					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D1409Y(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGCCAAATCTGATGCCGGTTT	0.448																																						uc003vjy.2		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(4225-4227)GAT>TAT		protein tyrosine phosphatase, receptor-type,							94.0	84.0	87.0					7																	121653325		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121653325G>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4225G>T	7.37:g.121653325G>T	ENSP00000377047:p.Asp1409Tyr					PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	p.D1409Y	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	4620	+			1409			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.4225G>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961533	0.34565	.	.	ENSG00000106278	ENST00000393386	T	0.56776	0.44	5.57	3.45	0.39498	.	0.669254	0.14664	N	0.305757	T	0.46600	0.1401	M	0.65975	2.015	0.33866	D	0.634397	P	0.38642	0.641	B	0.31751	0.135	T	0.63466	-0.6631	10	0.72032	D	0.01	.	9.0607	0.36433	0.2637:0.0:0.7363:0.0	.	1409	P23471	PTPRZ_HUMAN	Y	1409	ENSP00000377047:D1409Y	ENSP00000377047:D1409Y	D	+	1	0	PTPRZ1	121440561	0.890000	0.30428	0.219000	0.23793	0.724000	0.41520	1.176000	0.31957	1.359000	0.45940	0.650000	0.86243	GAT		0.448	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		68	89	1	0	1.84e-34	2.22e-34	68	89				
CPA2	1358	broad.mit.edu	37	7	129929571	129929571	+	Missense_Mutation	SNP	G	G	C	rs377236326	byFrequency	TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:129929571G>C	ENST00000222481.4	+	11	1299	c.1244G>C	c.(1243-1245)cGa>cCa	p.R415P		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	415					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R413P(1)|p.R413L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GAGCATGTGCGAGACCACCCC	0.517																																						uc003vpq.2		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|central_nervous_system(1)	ovary(1)	1						c.(1243-1245)CGA>CCA		carboxypeptidase A2 (pancreatic) precursor							77.0	75.0	76.0					7																	129929571		2203	4300	6503	SO:0001583	missense	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129929571G>C	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.1244G>C	7.37:g.129929571G>C	ENSP00000222481:p.Arg415Pro						p.R415P	NM_001869	NP_001860	P48052	CBPA2_HUMAN			11	1263	+	Melanoma(18;0.0435)		415					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.1244G>C	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199533	0.38806	.	.	ENSG00000158516	ENST00000222481	T	0.10668	2.85	4.57	3.69	0.42338	.	0.000000	0.64402	D	0.000001	T	0.28962	0.0719	M	0.79475	2.455	0.47949	D	0.999557	D	0.64830	0.994	P	0.62184	0.899	T	0.02821	-1.1106	10	0.49607	T	0.09	.	12.0386	0.53440	0.084:0.0:0.916:0.0	.	415	P48052	CBPA2_HUMAN	P	415	ENSP00000222481:R415P	ENSP00000222481:R415P	R	+	2	0	CPA2	129716807	0.017000	0.18338	0.955000	0.39395	0.440000	0.31957	1.763000	0.38461	1.078000	0.41014	0.561000	0.74099	CGA		0.517	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		33	85	0	0	0	0	33	85				
TRIM24	8805	broad.mit.edu	37	7	138210029	138210029	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:138210029A>G	ENST00000343526.4	+	5	1023	c.808A>G	c.(808-810)Ata>Gta	p.I270V	TRIM24_ENST00000415680.2_Missense_Mutation_p.I270V|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	270					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I270V(2)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GAAAGTGATCATAGATACACT	0.269																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	uc003vuc.2		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						c.(808-810)ATA>GTA		transcriptional intermediary factor 1 alpha							35.0	35.0	35.0					7																	138210029		2187	4253	6440	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138210029A>G	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.808A>G	7.37:g.138210029A>G	ENSP00000340507:p.Ile270Val					TRIM24_uc003vub.2_Missense_Mutation_p.I270V	p.I270V	NM_015905	NP_056989	O15164	TIF1A_HUMAN			5	1023	+			270					A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.808A>G	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	A	16.88	3.245071	0.59103	.	.	ENSG00000122779	ENST00000343526;ENST00000452999;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.57107	0.42;0.42	4.62	4.62	0.57501	B-box, C-terminal (1);	0.050385	0.85682	D	0.000000	T	0.53981	0.1830	L	0.55481	1.735	0.52501	D	0.999954	B;B	0.25441	0.001;0.126	B;B	0.37550	0.005;0.253	T	0.53215	-0.8470	10	0.33940	T	0.23	-9.3294	14.1191	0.65175	1.0:0.0:0.0:0.0	.	270;270	O15164;O15164-2	TIF1A_HUMAN;.	V	270;270;181;270;228	ENSP00000340507:I270V;ENSP00000390829:I270V	ENSP00000340507:I270V	I	+	1	0	TRIM24	137860569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.638000	0.91019	2.054000	0.61138	0.533000	0.62120	ATA		0.269	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		11	33	0	0	0	0	11	33				
KIAA1549	57670	broad.mit.edu	37	7	138545904	138545904	+	Missense_Mutation	SNP	G	G	A	rs201514543		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:138545904G>A	ENST00000422774.1	-	16	5276	c.5228C>T	c.(5227-5229)aCg>aTg	p.T1743M	KIAA1549_ENST00000440172.1_Missense_Mutation_p.T1743M|KIAA1549_ENST00000242365.4_Missense_Mutation_p.T1693M			Q9HCM3	K1549_HUMAN	KIAA1549	1743						integral component of membrane (GO:0016021)		p.T1693M(1)|p.T1743M(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ATTGTTGGCCGTCTGGGCTGG	0.602			O	BRAF	pilocytic astrocytoma								G|||	1	0.000199681	0.0	0.0014	5008	,	,		16166	0.0		0.0	False		,,,				2504	0.0				NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1		NA		Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	central_nervous_system(229)|pancreas(1)	230						c.(5227-5229)ACG>ATG		hypothetical protein LOC57670 isoform 1		G	MET/THR,MET/THR	2,3868		0,2,1933	43.0	48.0	46.0		5228,5228	2.8	0.6	7		46	9,8255		0,9,4123	yes	missense,missense	KIAA1549	NM_001164665.1,NM_020910.2	81,81	0,11,6056	AA,AG,GG		0.1089,0.0517,0.0907	probably-damaging,probably-damaging	1743/1951,1743/1935	138545904	11,12123	1935	4132	6067	SO:0001583	missense	57670					integral to membrane		g.chr7:138545904G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5228C>T	7.37:g.138545904G>A	ENSP00000416040:p.Thr1743Met					KIAA1549_uc011kqi.1_Missense_Mutation_p.T527M|KIAA1549_uc003vuk.3_Missense_Mutation_p.T1693M|KIAA1549_uc011kqj.1_Missense_Mutation_p.T1743M|KIAA1549_uc011kqk.1_Missense_Mutation_p.T527M	p.T1743M	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			16	5277	-			1743					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.5228C>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	7.594	0.671369	0.14776	5.17E-4	0.001089	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.25912	1.77;1.77;1.77	4.6	2.79	0.32731	.	0.278024	0.40818	N	0.001014	T	0.16514	0.0397	L	0.51422	1.61	0.25477	N	0.987771	P;B;P;B	0.42757	0.685;0.005;0.789;0.005	B;B;B;B	0.30495	0.054;0.006;0.116;0.006	T	0.25047	-1.0143	10	0.72032	D	0.01	.	5.1692	0.15101	0.1756:0.0:0.66:0.1644	.	1743;527;1743;527	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	M	1743;1693;1743	ENSP00000406661:T1743M;ENSP00000242365:T1693M;ENSP00000416040:T1743M	ENSP00000242365:T1693M	T	-	2	0	KIAA1549	138196444	.	.	0.580000	0.28601	0.397000	0.30659	.	.	0.670000	0.31165	0.563000	0.77884	ACG		0.602	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			44	54	0	0	0	0	44	54				
RAB11FIP1	80223	broad.mit.edu	37	8	37729045	37729045	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:37729045T>A	ENST00000330843.4	-	4	3287	c.3275A>T	c.(3274-3276)gAc>gTc	p.D1092V	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1092					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.D1092V(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TACAGGATTGTCCAGGGATGT	0.557											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xkm.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3274-3276)GAC>GTC		RAB11 family interacting protein 1 isoform 3							195.0	206.0	202.0					8																	37729045		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37729045T>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3275A>T	8.37:g.37729045T>A	ENSP00000331342:p.Asp1092Val		OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.D421V|RAB11FIP1_uc003xko.1_Missense_Mutation_p.D421V|RAB11FIP1_uc003xkp.1_Intron	p.D1092V	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3319	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1092					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.3275A>T	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.181781	0.38511	.	.	ENSG00000156675	ENST00000330843	T	0.12569	2.67	5.08	-10.2	0.00374	.	0.528567	0.16979	N	0.191768	T	0.06872	0.0175	L	0.43152	1.355	0.24316	N	0.995063	B;B	0.29988	0.264;0.003	B;B	0.27170	0.077;0.004	T	0.04607	-1.0939	10	0.42905	T	0.14	-1.0458	4.6991	0.12818	0.0916:0.3155:0.403:0.1899	.	421;1092	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	V	1092	ENSP00000331342:D1092V	ENSP00000331342:D1092V	D	-	2	0	RAB11FIP1	37848203	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.840000	0.04363	-1.634000	0.01537	-0.488000	0.04728	GAC		0.557	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		167	259	0	0	0	0	167	259				
RAB11FIP1	80223	broad.mit.edu	37	8	37730417	37730417	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:37730417C>T	ENST00000330843.4	-	4	1915	c.1903G>A	c.(1903-1905)Gag>Aag	p.E635K	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	635					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GTTTGCAACTCTGCCTTAGGG	0.502																																						uc003xkm.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1903-1905)GAG>AAG		RAB11 family interacting protein 1 isoform 3							115.0	108.0	110.0					8																	37730417		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37730417C>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1903G>A	8.37:g.37730417C>T	ENSP00000331342:p.Glu635Lys					RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	p.E635K	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	1947	-		Lung NSC(58;0.118)|all_lung(54;0.195)	635					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.1903G>A	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781227	0.31502	.	.	ENSG00000156675	ENST00000330843	T	0.11821	2.74	5.49	2.65	0.31530	.	0.532212	0.17126	N	0.186015	T	0.06508	0.0167	N	0.14661	0.345	0.09310	N	1	B	0.18310	0.027	B	0.08055	0.003	T	0.38045	-0.9679	10	0.07175	T	0.84	-5.6236	9.6075	0.39643	0.0:0.7726:0.0:0.2274	.	635	Q6WKZ4	RFIP1_HUMAN	K	635	ENSP00000331342:E635K	ENSP00000331342:E635K	E	-	1	0	RAB11FIP1	37849575	0.000000	0.05858	0.008000	0.14137	0.048000	0.14542	0.952000	0.29149	1.277000	0.44412	0.655000	0.94253	GAG		0.502	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		24	219	0	0	0	0	24	219				
CHRNB3	1142	broad.mit.edu	37	8	42587115	42587115	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:42587115T>C	ENST00000289957.2	+	5	793	c.665T>C	c.(664-666)tTt>tCt	p.F222S		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	222					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	TCCTATCCCTTTATCACGTAT	0.478																																						uc003xpi.1		NA																	0				ovary(1)	1						c.(664-666)TTT>TCT		cholinergic receptor, nicotinic, beta							101.0	102.0	102.0					8																	42587115		2203	4300	6503	SO:0001583	missense	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42587115T>C	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.665T>C	8.37:g.42587115T>C	ENSP00000289957:p.Phe222Ser						p.F222S	NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	793	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	222			Extracellular (Potential).		Q15827	Missense_Mutation	SNP	ENST00000289957.2	37	c.665T>C	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	t	1.116	-0.656781	0.03480	.	.	ENSG00000147432	ENST00000289957	T	0.78246	-1.16	5.46	4.18	0.49190	Neurotransmitter-gated ion-channel ligand-binding (3);	0.144593	0.64402	D	0.000005	T	0.69566	0.3125	N	0.02865	-0.47	0.21105	N	0.999788	D	0.53745	0.962	P	0.62491	0.903	T	0.64179	-0.6468	10	0.72032	D	0.01	.	10.8837	0.46955	0.1511:0.0:0.0:0.8489	.	222	Q05901	ACHB3_HUMAN	S	222	ENSP00000289957:F222S	ENSP00000289957:F222S	F	+	2	0	CHRNB3	42706272	0.001000	0.12720	0.030000	0.17652	0.008000	0.06430	0.404000	0.20999	2.076000	0.62316	0.456000	0.33151	TTT		0.478	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			61	61	0	0	0	0	61	61				
CA2	760	broad.mit.edu	37	8	86389459	86389459	+	Silent	SNP	G	G	A	rs369700367	byFrequency	TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:86389459G>A	ENST00000285379.5	+	6	848	c.618G>A	c.(616-618)gtG>gtA	p.V206V		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	206					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TGGAATGTGTGACCTGGATTG	0.512													G|||	4	0.000798722	0.0	0.0	5008	,	,		18109	0.0		0.0	False		,,,				2504	0.0041					uc003ydk.2		NA																	0				central_nervous_system(1)	1						c.(616-618)GTG>GTA		carbonic anhydrase II	Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						277.0	264.0	268.0					8																	86389459		2203	4300	6503	SO:0001819	synonymous_variant	760				one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding	g.chr8:86389459G>A	J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"""Carbonic anhydrases"""	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.618G>A	8.37:g.86389459G>A							p.V206V	NM_000067	NP_000058	P00918	CAH2_HUMAN			6	798	+			206					B2R7G8|Q6FI12|Q96ET9	Silent	SNP	ENST00000285379.5	37	c.618G>A	CCDS6239.1																																																																																				0.512	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381097.2	NM_000067		9	430	0	0	0	0	9	430				
RGS22	26166	broad.mit.edu	37	8	101065137	101065137	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:101065137G>A	ENST00000360863.6	-	10	1776	c.1582C>T	c.(1582-1584)Cac>Tac	p.H528Y	RGS22_ENST00000523437.1_Missense_Mutation_p.H516Y|RGS22_ENST00000523287.1_Missense_Mutation_p.H347Y	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	528					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.H528Y(1)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGACGGAGGTGCCAGAATTTC	0.408																																						uc003yjb.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(1582-1584)CAC>TAC		regulator of G-protein signaling 22							207.0	205.0	206.0					8																	101065137		1896	4115	6011	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101065137G>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1582C>T	8.37:g.101065137G>A	ENSP00000354109:p.His528Tyr					RGS22_uc003yja.1_Missense_Mutation_p.H347Y|RGS22_uc003yjc.1_Missense_Mutation_p.H516Y|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	p.H528Y	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		10	1777	-			528					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.1582C>T	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.254001	0.39896	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.33216	1.43;1.42;1.43	5.04	4.16	0.48862	.	0.511007	0.20678	N	0.087705	T	0.30198	0.0757	L	0.57536	1.79	0.24673	N	0.993401	B;B;B	0.15930	0.015;0.015;0.006	B;B;B	0.14023	0.008;0.008;0.01	T	0.23868	-1.0176	10	0.56958	D	0.05	.	10.2966	0.43627	0.153:0.0:0.847:0.0	.	516;528;347	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	Y	528;516;347;516	ENSP00000354109:H528Y;ENSP00000429382:H347Y;ENSP00000428212:H516Y	ENSP00000354109:H528Y	H	-	1	0	RGS22	101134313	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	3.778000	0.55371	1.238000	0.43771	0.585000	0.79938	CAC		0.408	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		119	188	0	0	0	0	119	188				
RIMS2	9699	broad.mit.edu	37	8	104898340	104898340	+	Missense_Mutation	SNP	G	G	A	rs200234707		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:104898340G>A	ENST00000436393.2	+	2	1088	c.847G>A	c.(847-849)Ggt>Agt	p.G283S	RIMS2_ENST00000262231.10_Missense_Mutation_p.G313S|RIMS2_ENST00000507740.1_Missense_Mutation_p.G313S|RIMS2_ENST00000406091.3_Missense_Mutation_p.G505S			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	536					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.G313S(1)|p.G541S(1)|p.G283S(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAAGAAAGGCGGTAAAATGCG	0.428										HNSCC(12;0.0054)																												uc003yls.2		NA																	3	Substitution - Missense(3)		upper_aerodigestive_tract(3)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(847-849)GGT>AGT		regulating synaptic membrane exocytosis 2		G	SER/GLY,SER/GLY	1,4055		0,1,2027	59.0	56.0	57.0		1513,937	5.5	1.0	8		57	1,8309		0,1,4154	no	missense,missense	RIMS2	NM_001100117.2,NM_014677.4	56,56	0,2,6181	AA,AG,GG		0.012,0.0247,0.0162	probably-damaging,probably-damaging	505/1350,313/1164	104898340	2,12364	2028	4155	6183	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898340G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.847G>A	8.37:g.104898340G>A	ENSP00000390665:p.Gly283Ser	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.G505S|RIMS2_uc003ylw.2_Missense_Mutation_p.G313S|RIMS2_uc003ylq.2_Missense_Mutation_p.G313S|RIMS2_uc003ylr.2_Missense_Mutation_p.G313S	p.G283S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	1088	+			536					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.847G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	29.0	4.966603	0.92855	2.47E-4	1.2E-4	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.18174	2.23;2.71;2.31;2.27;2.37;2.3;2.68	5.54	5.54	0.83059	.	.	.	.	.	T	0.31420	0.0796	L	0.27053	0.805	0.80722	D	1	D;D;B;D;D	0.89917	0.974;0.977;0.441;1.0;1.0	P;P;B;D;D	0.73708	0.65;0.899;0.114;0.964;0.981	T	0.02603	-1.1135	9	0.46703	T	0.11	.	19.4835	0.95020	0.0:0.0:1.0:0.0	.	536;283;313;313;505	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	S	505;536;505;536;313;313;313;313;283	ENSP00000427018:G505S;ENSP00000384892:G505S;ENSP00000425205:G313S;ENSP00000262231:G313S;ENSP00000423559:G313S;ENSP00000386228:G313S;ENSP00000390665:G283S	ENSP00000262231:G313S	G	+	1	0	RIMS2	104967516	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.015000	0.88690	2.597000	0.87782	0.563000	0.77884	GGT		0.428	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		34	49	0	0	0	0	34	49				
LRP12	29967	broad.mit.edu	37	8	105510194	105510194	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:105510194C>T	ENST00000276654.5	-	5	694	c.586G>A	c.(586-588)Gat>Aat	p.D196N	LRP12_ENST00000424843.2_Missense_Mutation_p.D177N|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	196	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATCTCTTCATCGGAACTATCT	0.423																																						uc003yma.2		NA																	0					0						c.(586-588)GAT>AAT		low density lipoprotein-related protein 12							189.0	170.0	177.0					8																	105510194		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105510194C>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.586G>A	8.37:g.105510194C>T	ENSP00000276654:p.Asp196Asn					LRP12_uc003ymb.2_Missense_Mutation_p.D177N|LRP12_uc003ylz.2_5'Flank	p.D196N	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	681	-			196			Extracellular (Potential).|LDL-receptor class A 1.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.586G>A	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702550	0.88924	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	D;D	0.99214	-5.57;-5.57	5.38	5.38	0.77491	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	H	0.97758	4.07	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.994;0.996	D	0.97403	0.9997	10	0.87932	D	0	-25.5047	19.1664	0.93559	0.0:1.0:0.0:0.0	.	177;196	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	N	177;196	ENSP00000399148:D177N;ENSP00000276654:D196N	ENSP00000276654:D196N	D	-	1	0	LRP12	105579370	1.000000	0.71417	0.938000	0.37757	0.895000	0.52256	7.487000	0.81328	2.524000	0.85096	0.563000	0.77884	GAT		0.423	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		4	210	0	0	0	0	4	210				
POU5F1B	5462	broad.mit.edu	37	8	128428272	128428272	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:128428272G>A	ENST00000465342.2	+	2	1318	c.161G>A	c.(160-162)gGc>gAc	p.G54D	CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.G54D|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	54					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						GTTGGGCCAGGCTCTGAGGTG	0.677																																						uc003ysf.2		NA																	0					0						c.(160-162)GGC>GAC		POU class 5 homeobox 1B							1.0	2.0	2.0					8																	128428272		430	1222	1652	SO:0001583	missense	5462					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:128428272G>A	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"""Homeoboxes / POU class"""	9223	protein-coding gene	gene with protein product		615739	"""POU domain class 5, transcription factor 1 pseudogene 1"", ""POU class 5 homeobox 1 pseudogene 1"""	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.161G>A	8.37:g.128428272G>A	ENSP00000419298:p.Gly54Asp					uc003ysc.1_Intron|uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|uc011liu.1_RNA	p.G54D	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN			1	416	+			54					D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Missense_Mutation	SNP	ENST00000465342.2	37	c.161G>A	CCDS55274.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029378	0.35797	.	.	ENSG00000212993	ENST00000465342;ENST00000391675	T;T	0.21932	1.98;1.98	0.865	0.865	0.19074	.	0.154096	0.30752	N	0.008950	T	0.27663	0.0680	M	0.68952	2.095	0.09310	N	0.999999	P	0.51653	0.947	P	0.52267	0.694	T	0.06075	-1.0847	10	0.87932	D	0	.	5.1866	0.15187	0.0:0.0:1.0:0.0	.	54	Q06416	P5F1B_HUMAN	D	54	ENSP00000419298:G54D;ENSP00000375557:G54D	ENSP00000375557:G54D	G	+	2	0	POU5F1B	128497454	0.022000	0.18835	0.032000	0.17829	0.034000	0.12701	1.792000	0.38754	0.796000	0.33947	0.121000	0.15741	GGC		0.677	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		9	8	0	0	0	0	9	8				
ZNF16	7564	broad.mit.edu	37	8	146157609	146157609	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:146157609C>G	ENST00000276816.4	-	4	750	c.564G>C	c.(562-564)caG>caC	p.Q188H	ZNF16_ENST00000394909.2_Missense_Mutation_p.Q188H	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	188	Necessary for transcription activation.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|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(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GCTGGAAACTCTGGCCACCCA	0.493																																						uc003zet.2		NA																	0				ovary(5)	5						c.(562-564)CAG>CAC		zinc finger protein 16							128.0	121.0	123.0					8																	146157609		2203	4300	6503	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146157609C>G	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.564G>C	8.37:g.146157609C>G	ENSP00000276816:p.Gln188His					ZNF16_uc003zeu.2_Missense_Mutation_p.Q188H	p.Q188H	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	751	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	188					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.564G>C	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	C	5.252	0.231930	0.09969	.	.	ENSG00000170631	ENST00000276816;ENST00000394909;ENST00000532351	T;T;T	0.28255	1.62;1.62;2.44	3.45	-2.51	0.06365	.	.	.	.	.	T	0.14960	0.0361	N	0.16233	0.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21690	-1.0238	9	0.72032	D	0.01	.	2.6311	0.04945	0.1159:0.4136:0.1243:0.3462	.	188	P17020	ZNF16_HUMAN	H	188	ENSP00000276816:Q188H;ENSP00000378369:Q188H;ENSP00000434321:Q188H	ENSP00000276816:Q188H	Q	-	3	2	ZNF16	146128413	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.242000	0.08928	-0.821000	0.04312	-1.119000	0.02030	CAG		0.493	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		28	260	0	0	0	0	28	260				
AGTPBP1	23287	broad.mit.edu	37	9	88162058	88162058	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr9:88162058G>A	ENST00000357081.3	-	26	3791	c.3647C>T	c.(3646-3648)tCt>tTt	p.S1216F	AGTPBP1_ENST00000432218.1_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.S1228F|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.S1176F			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1216					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTCAGAGTCAGAAAGTACTTC	0.363																																						uc011ltd.1		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(3646-3648)TCT>TTT		ATP/GTP binding protein 1							141.0	131.0	135.0					9																	88162058		2203	4300	6503	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88162058G>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3647C>T	9.37:g.88162058G>A	ENSP00000349592:p.Ser1216Phe					AGTPBP1_uc004aod.3_Missense_Mutation_p.S842F|AGTPBP1_uc011ltc.1_3'UTR|AGTPBP1_uc010mqc.2_Missense_Mutation_p.S1176F|AGTPBP1_uc011lte.1_Missense_Mutation_p.S1228F	p.S1216F	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN			25	3680	-			1216					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.3647C>T		.	.	.	.	.	.	.	.	.	.	G	16.08	3.022300	0.54683	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.25579	1.86;1.86;1.79	6.03	6.03	0.97812	.	0.125321	0.56097	D	0.000027	T	0.44746	0.1308	L	0.32530	0.975	0.80722	D	1	D;B;B	0.89917	1.0;0.006;0.004	D;B;B	0.87578	0.998;0.004;0.007	T	0.27839	-1.0062	10	0.87932	D	0	-22.4654	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1228;1216;1176	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	F	1216;1176;1228	ENSP00000349592:S1216F;ENSP00000365251:S1176F;ENSP00000365277:S1228F	ENSP00000349592:S1216F	S	-	2	0	AGTPBP1	87351878	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.122000	0.77169	2.861000	0.98227	0.655000	0.94253	TCT		0.363	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		8	152	0	0	0	0	8	152				
ZNF883	169834	broad.mit.edu	37	9	115760138	115760138	+	lincRNA	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr9:115760138G>A	ENST00000427548.1	-	0	1675							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGATATGGCTGAAAGCTTTCC	0.393																																						uc011lwy.1		NA																	0					0						c.(400-402)TTC>TTT		hypothetical protein LOC169834							71.0	73.0	72.0					9																	115760138		2177	4286	6463			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115760138G>A	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760138G>A							p.F134F	NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN			5	1641	-			134			C2H2-type 5.			Silent	SNP	ENST00000427548.1	37	c.402C>T																																																																																					0.393	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		6	115	0	0	0	0	6	115				
PAPPA	5069	broad.mit.edu	37	9	118949729	118949729	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr9:118949729C>G	ENST00000328252.3	+	2	1081	c.712C>G	c.(712-714)Ctc>Gtc	p.L238V	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	238					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L238V(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGCAAAGTGCTCATGTTAGG	0.557																																						uc004bjn.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(4)|skin(4)|pancreas(1)	9						c.(712-714)CTC>GTC		pregnancy-associated plasma protein A							75.0	72.0	73.0					9																	118949729		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118949729C>G		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.712C>G	9.37:g.118949729C>G	ENSP00000330658:p.Leu238Val					PAPPA_uc011lxp.1_Missense_Mutation_p.L31V|PAPPA_uc011lxq.1_Missense_Mutation_p.L31V	p.L238V	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			2	1093	+			238					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.712C>G	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529321	0.85706	.	.	ENSG00000182752	ENST00000328252	T	0.77877	-1.13	6.07	6.07	0.98685	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.90140	0.6919	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90186	0.4246	10	0.72032	D	0.01	-24.8591	20.6439	0.99570	0.0:1.0:0.0:0.0	.	238	Q13219	PAPP1_HUMAN	V	238	ENSP00000330658:L238V	ENSP00000330658:L238V	L	+	1	0	PAPPA	117989550	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.062000	0.71155	2.884000	0.98904	0.655000	0.94253	CTC		0.557	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		19	155	0	0	0	0	19	155				
CNTRL	11064	broad.mit.edu	37	9	123880662	123880662	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr9:123880662G>C	ENST00000373855.1	+	12	1754	c.1494G>C	c.(1492-1494)ttG>ttC	p.L498F	CNTRL_ENST00000238341.5_Missense_Mutation_p.L498F|CNTRL_ENST00000373850.1_5'Flank|CNTRL_ENST00000373865.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	498					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ACAAGCAGTTGAGTGGTAGAC	0.393																																						uc004bkx.1		NA																	0					0						c.(1492-1494)TTG>TTC		centrosomal protein 110kDa							109.0	116.0	114.0					9																	123880662		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123880662G>C	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1494G>C	9.37:g.123880662G>C	ENSP00000362962:p.Leu498Phe					CEP110_uc004bky.1_Missense_Mutation_p.L102F	p.L498F	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			10	1525	+			498			Potential.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.1494G>C	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478194	0.63849	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.34859	1.34;1.34	5.46	3.24	0.37175	.	.	.	.	.	T	0.53417	0.1795	M	0.64997	1.995	0.34785	D	0.735106	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.64719	-0.6341	9	0.56958	D	0.05	.	10.0044	0.41949	0.2132:0.0:0.7868:0.0	.	498;498	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	F	498	ENSP00000362962:L498F;ENSP00000238341:L498F	ENSP00000238341:L498F	L	+	3	2	CNTRL	122920483	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.342000	0.33919	1.442000	0.47568	0.563000	0.77884	TTG		0.393	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		5	342	0	0	0	0	5	342				
SPTAN1	6709	broad.mit.edu	37	9	131370227	131370227	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr9:131370227G>A	ENST00000372731.4	+	33	4353	c.4243G>A	c.(4243-4245)Gag>Aag	p.E1415K	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1415K|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1415K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1415					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGCCAGCCCTGAGATCAAGCA	0.547																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NA																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(4243-4245)GAG>AAG		spectrin, alpha, non-erythrocytic 1							76.0	76.0	76.0					9																	131370227		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131370227G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4243G>A	9.37:g.131370227G>A	ENSP00000361816:p.Glu1415Lys					SPTAN1_uc004bvm.3_Missense_Mutation_p.E1415K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1395K	p.E1415K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			33	4356	+			1415			Spectrin 15.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.4243G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593351	0.66219	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.52295	0.67;0.67;0.67	5.73	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	M	0.91038	3.17	0.80722	D	1	P;B;B	0.52692	0.955;0.003;0.004	B;B;B	0.39706	0.307;0.003;0.006	T	0.71334	-0.4624	10	0.62326	D	0.03	.	15.0295	0.71696	0.0682:0.0:0.9318:0.0	.	1395;1415;1415	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	K	1415;1415;1415;1395	ENSP00000350882:E1415K;ENSP00000361816:E1415K;ENSP00000361824:E1415K	ENSP00000350882:E1415K	E	+	1	0	SPTAN1	130410048	1.000000	0.71417	0.952000	0.39060	0.919000	0.55068	8.009000	0.88606	1.567000	0.49668	-0.136000	0.14681	GAG		0.547	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		7	158	0	0	0	0	7	158				
ZER1	10444	broad.mit.edu	37	9	131503106	131503106	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr9:131503106C>T	ENST00000291900.2	-	12	2204	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	600					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TCCTTCACTTCTGCCACATTC	0.463																																						uc004bwa.1		NA																	0				ovary(1)	1						c.(1798-1800)GAA>AAA		zyg-11 homolog B (C. elegans)-like							123.0	114.0	117.0					9																	131503106		2203	4300	6503	SO:0001583	missense	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131503106C>T	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1798G>A	9.37:g.131503106C>T	ENSP00000291900:p.Glu600Lys						p.E600K	NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN			12	2231	-			600			ARM 3.		O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	c.1798G>A	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	C	35	5.591311	0.96590	.	.	ENSG00000160445	ENST00000291900	T	0.57436	0.4	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.094756	0.64402	D	0.000001	T	0.74809	0.3765	M	0.80332	2.49	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.75448	-0.3314	10	0.52906	T	0.07	-31.6887	18.5908	0.91212	0.0:1.0:0.0:0.0	.	600	Q7Z7L7	ZER1_HUMAN	K	600	ENSP00000291900:E600K	ENSP00000291900:E600K	E	-	1	0	ZER1	130542927	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.130000	0.77235	2.873000	0.98535	0.561000	0.74099	GAA		0.463	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		12	192	0	0	0	0	12	192				
CSF2RA	1438	broad.mit.edu	37	X	1409269	1409269	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chrX:1409269C>T	ENST00000381524.3	+	7	699	c.513C>T	c.(511-513)gaC>gaT	p.D171D	CSF2RA_ENST00000355432.3_Silent_p.D171D|CSF2RA_ENST00000361536.3_Silent_p.D171D|CSF2RA_ENST00000494969.2_Intron|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000381500.1_Silent_p.D171D|CSF2RA_ENST00000417535.2_Silent_p.D171D|CSF2RA_ENST00000432318.2_Silent_p.D171D|CSF2RA_ENST00000381529.3_Silent_p.D171D|CSF2RA_ENST00000381509.3_Silent_p.D171D|CSF2RA_ENST00000355805.2_Silent_p.D171D|CSF2RA_ENST00000501036.2_Silent_p.D38D|BX649553.4_ENST00000580687.1_RNA			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	171					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.D171D(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACATACAAGACTCAGGAACCC	0.433																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(511-513)GAC>GAT		colony stimulating factor 2 receptor alpha chain	Sargramostim(DB00020)						274.0	266.0	269.0					X																	1409269		2203	4296	6499	SO:0001819	synonymous_variant	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1409269C>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.513C>T	X.37:g.1409269C>T						CSF2RA_uc011mhb.1_Silent_p.D171D|CSF2RA_uc004cpq.2_Silent_p.D171D|CSF2RA_uc004cpn.2_Silent_p.D171D|CSF2RA_uc004cpo.2_Silent_p.D171D|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Silent_p.D38D|CSF2RA_uc004cpp.2_Silent_p.D171D|CSF2RA_uc010ncv.2_Silent_p.D171D|CSF2RA_uc004cpr.2_Silent_p.D171D	p.D171D	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN			8	835	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	171			Extracellular (Potential).		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	ENST00000381524.3	37	c.513C>T	CCDS35191.1																																																																																				0.433	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			96	61	0	0	0	0	96	61				
YY2	404281	broad.mit.edu	37	X	21875244	21875244	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chrX:21875244G>A	ENST00000429584.2	+	1	1140	c.642G>A	c.(640-642)ttG>ttA	p.L214L	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CCGAGTACTTGAAAGGGAAGA	0.483																																						uc011mjp.1		NA																	0				breast(1)|skin(1)	2						c.(640-642)TTG>TTA		YY2 transcription factor							138.0	150.0	146.0					X																	21875244		2203	4300	6503	SO:0001819	synonymous_variant	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875244G>A	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.642G>A	X.37:g.21875244G>A						MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Silent_p.L432L|MBTPS2_uc004dab.2_Intron	p.L214L	NM_206923	NP_996806	O15391	TYY2_HUMAN			1	642	+			214					B2RP10|Q6Q1S4	Silent	SNP	ENST00000429584.2	37	c.642G>A	CCDS14202.1																																																																																				0.483	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		9	192	0	0	0	0	9	192				
ACRC	93953	broad.mit.edu	37	X	70823703	70823703	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chrX:70823703C>T	ENST00000373695.1	+	7	1113	c.576C>T	c.(574-576)aaC>aaT	p.N192N	ACRC_ENST00000373696.3_Silent_p.N192N			Q96QF7	ACRC_HUMAN	acidic repeat containing	192	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCGACGACAACAGTGATGATT	0.498																																						uc004eae.2		NA																	0				ovary(3)	3						c.(574-576)AAC>AAT		ACRC protein							322.0	260.0	281.0					X																	70823703		2203	4300	6503	SO:0001819	synonymous_variant	93953					nucleus		g.chrX:70823703C>T	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.576C>T	X.37:g.70823703C>T						BCYRN1_uc011mpt.1_Intron	p.N192N	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			8	1077	+	Renal(35;0.156)		192			Asp/Ser-rich.		B9EG62	Silent	SNP	ENST00000373695.1	37	c.576C>T	CCDS35326.1																																																																																				0.498	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			6	245	0	0	0	0	6	245				
ZNF711	7552	broad.mit.edu	37	X	84502625	84502625	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chrX:84502625G>T	ENST00000373165.3	+	3	353	c.47G>T	c.(46-48)aGa>aTa	p.R16I	ZNF711_ENST00000395402.1_5'UTR|ZNF711_ENST00000360700.4_Missense_Mutation_p.R16I|ZNF711_ENST00000276123.3_Missense_Mutation_p.R16I	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	16					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CCAGACTCTAGAATGGCCCAT	0.333																																						uc004eeo.2		NA																	0				ovary(3)|skin(1)	4						c.(46-48)AGA>ATA		zinc finger protein 711							148.0	134.0	139.0					X																	84502625		2203	4300	6503	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84502625G>T	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.47G>T	X.37:g.84502625G>T	ENSP00000362260:p.Arg16Ile					ZNF711_uc004eep.2_Missense_Mutation_p.R16I|ZNF711_uc004eeq.2_Missense_Mutation_p.R16I	p.R16I	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN			3	394	+			16					B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.47G>T	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	g	15.27	2.782846	0.49891	.	.	ENSG00000147180	ENST00000373165;ENST00000276123;ENST00000360700	T;T;T	0.07800	3.16;3.16;3.2	4.64	3.5	0.40072	.	0.203139	0.23481	U	0.047715	T	0.03520	0.0101	N	0.08118	0	0.80722	D	1	P;P	0.37864	0.545;0.61	B;B	0.35607	0.206;0.07	T	0.44421	-0.9329	10	0.46703	T	0.11	-8.4683	3.2293	0.06742	0.4886:0.0:0.5114:0.0	.	16;16	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	I	16	ENSP00000362260:R16I;ENSP00000276123:R16I;ENSP00000353922:R16I	ENSP00000276123:R16I	R	+	2	0	ZNF711	84389281	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.785000	0.68998	2.033000	0.60031	0.509000	0.49947	AGA		0.333	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		20	101	1	0	4.35e-09	5e-09	20	101				
IRS4	8471	broad.mit.edu	37	X	107978638	107978638	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chrX:107978638C>T	ENST00000372129.2	-	1	1013	c.937G>A	c.(937-939)Gac>Aac	p.D313N	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	313	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ACCACACAGTCATCGACCTGC	0.547																																						uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(937-939)GAC>AAC		insulin receptor substrate 4							156.0	142.0	147.0					X																	107978638		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107978638C>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.937G>A	X.37:g.107978638C>T	ENSP00000361202:p.Asp313Asn						p.D313N	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	970	-			313			IRS-type PTB.			Missense_Mutation	SNP	ENST00000372129.2	37	c.937G>A	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689432	0.68271	.	.	ENSG00000133124	ENST00000372129	T	0.44881	0.91	4.58	4.58	0.56647	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.188219	0.43919	D	0.000511	T	0.66107	0.2756	M	0.76938	2.355	0.53005	D	0.999962	D	0.76494	0.999	D	0.91635	0.999	T	0.71444	-0.4591	10	0.62326	D	0.03	-22.4824	16.736	0.85447	0.0:1.0:0.0:0.0	.	313	O14654	IRS4_HUMAN	N	313	ENSP00000361202:D313N	ENSP00000361202:D313N	D	-	1	0	IRS4	107865294	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.641000	0.83368	2.124000	0.65301	0.600000	0.82982	GAC		0.547	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		6	169	0	0	0	0	6	169				
HTATSF1	27336	broad.mit.edu	37	X	135581841	135581841	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chrX:135581841G>C	ENST00000218364.4	+	2	445	c.271G>C	c.(271-273)Gat>Cat	p.D91H	HTATSF1_ENST00000535601.1_Missense_Mutation_p.D91H	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	91					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AAATGTTGAAGATGTCCATGC	0.443																																						uc004ezw.2		NA																	0				ovary(2)|breast(1)	3						c.(271-273)GAT>CAT		HIV-1 Tat specific factor 1							128.0	125.0	126.0					X																	135581841		2203	4300	6503	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135581841G>C	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.271G>C	X.37:g.135581841G>C	ENSP00000218364:p.Asp91His					HTATSF1_uc004ezx.2_Missense_Mutation_p.D91H	p.D91H	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN			3	693	+	Acute lymphoblastic leukemia(192;0.000127)		91					D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.271G>C	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544727	0.27563	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000425695;ENST00000218364;ENST00000415377	T;T	0.25085	1.82;1.82	5.87	4.09	0.47781	.	0.697909	0.14866	N	0.293809	T	0.30166	0.0756	L	0.58101	1.795	0.09310	N	1	P	0.47910	0.902	P	0.47430	0.547	T	0.21690	-1.0238	10	0.87932	D	0	-19.2971	5.8256	0.18552	0.2321:0.0:0.6268:0.141	.	91	O43719	HTSF1_HUMAN	H	91	ENSP00000442699:D91H;ENSP00000218364:D91H	ENSP00000218364:D91H	D	+	1	0	HTATSF1	135409507	0.640000	0.27243	0.302000	0.25058	0.038000	0.13279	1.571000	0.36450	1.228000	0.43614	0.594000	0.82650	GAT		0.443	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		9	117	0	0	0	0	9	117				
