#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
MMP23B	8510	broad.mit.edu	37	1	1572346	1572346	+	IGR	SNP	C	C	T	rs368832250		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:1572346C>T	ENST00000356026.5	+	0	1326				CDK11B_ENST00000340677.5_Silent_p.A561A|CDK11B_ENST00000407249.3_Silent_p.A574A|CDK11B_ENST00000341832.6_Silent_p.A527A|CDK11B_ENST00000317673.7_Silent_p.A572A			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	CGTACTCCCGCGCCAGCCCGA	0.687																																						uc001agv.1		NA																	0				skin(1)	1						c.(1711-1713)GCG>GCA		cell division cycle 2-like 1 (PITSLRE proteins)		C	,,,,,	1,4075		0,1,2037	42.0	52.0	48.0		1458,945,1347,1356,1476,1449	-10.4	0.0	1		48	0,8396		0,0,4198	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CDK11B	NM_033486.1,NM_033487.1,NM_033488.1,NM_033489.1,NM_033492.1,NM_033493.1	,,,,,	0,1,6235	TT,TC,CC		0.0,0.0245,0.0080	,,,,,	486/698,315/527,449/661,452/664,492/704,483/695	1572346	1,12471	2038	4198	6236	SO:0001628	intergenic_variant	984				apoptosis|cell proliferation|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.chr1:1572346C>T		CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7171	protein-coding gene	gene with protein product	"""matrix metalloproteinase 22"", ""femalysin"", ""matrix metalloproteinase in the female reproductive tract"""	603321	"""matrix metalloproteinase 23B"""	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1572346C>T						CDK11B_uc009vkj.2_Silent_p.A228A|CDK11B_uc001ags.1_Silent_p.A429A|CDK11B_uc001agt.1_Silent_p.A354A|CDK11B_uc001aha.1_Silent_p.A537A|CDK11B_uc001agw.1_Silent_p.A526A|CDK11B_uc001agy.1_Silent_p.A569A|CDK11B_uc001agx.1_Silent_p.A560A|CDK11B_uc001agz.1_Silent_p.A315A	p.A571A	NM_033486	NP_277021	P21127	CD11B_HUMAN			20	1824	-			584			Protein kinase.		A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Silent	SNP	ENST00000356026.5	37	c.1713G>A	CCDS30559.1																																																																																				0.687	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158492.2	NM_006983		15	21	0	0	0	0	15	21				
CELA2B	51032	broad.mit.edu	37	1	15813844	15813844	+	Missense_Mutation	SNP	G	G	A	rs141194336	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:15813844G>A	ENST00000375910.3	+	7	729	c.704G>A	c.(703-705)gGc>gAc	p.G235D		NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	235	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		G -> S (in dbSNP:rs3737703).			extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CATGGCATCGGCAGCCTCACG	0.577																																						uc001awl.2		NA																	0				ovary(1)	1						c.(703-705)GGC>GAC		elastase 2B preproprotein							122.0	117.0	119.0					1																	15813844		2203	4300	6503	SO:0001583	missense	51032				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15813844G>A		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"""pancreatic elastase IIB"""	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.704G>A	1.37:g.15813844G>A	ENSP00000365075:p.Gly235Asp						p.G235D	NM_015849	NP_056933	P08218	CEL2B_HUMAN			7	729	+			235			Peptidase S1.		Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	c.704G>A	CCDS30605.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381124	0.24944	.	.	ENSG00000215704	ENST00000375910	D	0.92858	-3.12	4.77	3.63	0.41609	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.119730	0.35207	U	0.003371	D	0.83931	0.5361	N	0.12961	0.28	0.24378	N	0.994808	B	0.30634	0.288	B	0.36808	0.233	T	0.76080	-0.3090	10	0.72032	D	0.01	.	5.081	0.14656	0.0:0.0965:0.1913:0.7123	.	235	P08218	CEL2B_HUMAN	D	235	ENSP00000365075:G235D	ENSP00000365075:G235D	G	+	2	0	CELA2B	15686431	1.000000	0.71417	0.690000	0.30148	0.041000	0.13682	1.104000	0.31074	0.748000	0.32831	-0.359000	0.07587	GGC		0.577	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		4	109	0	0	0	0	4	109				
ZBTB17	7709	broad.mit.edu	37	1	16272657	16272657	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:16272657G>A	ENST00000375743.4	-	5	759	c.527C>T	c.(526-528)gCg>gTg	p.A176V	ZBTB17_ENST00000375733.2_Missense_Mutation_p.A176V|ZBTB17_ENST00000448462.2_Missense_Mutation_p.A113V|ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000537142.1_Missense_Mutation_p.A94V	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	176					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		ACCGCTGGCCGCACTCTGGGC	0.687																																						uc001axl.3		NA																	0					0						c.(526-528)GCG>GTG		zinc finger and BTB domain containing 17							65.0	66.0	66.0					1																	16272657		2203	4299	6502	SO:0001583	missense	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16272657G>A	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.527C>T	1.37:g.16272657G>A	ENSP00000364895:p.Ala176Val					ZBTB17_uc010obq.1_Missense_Mutation_p.A93V|ZBTB17_uc010obr.1_Missense_Mutation_p.A176V|ZBTB17_uc010obs.1_Missense_Mutation_p.A100V|ZBTB17_uc010obt.1_Missense_Mutation_p.A113V|ZBTB17_uc010obu.1_Missense_Mutation_p.A100V|ZBTB17_uc009vom.1_Missense_Mutation_p.A119V|ZBTB17_uc010obv.1_Missense_Mutation_p.A176V	p.A176V	NM_003443	NP_003434	Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	5	766	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	176					A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	c.527C>T	CCDS165.1	.	.	.	.	.	.	.	.	.	.	G	7.901	0.734460	0.15574	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000537142;ENST00000448462	T;T;T;T	0.13538	2.6;2.58;2.91;2.82	4.39	3.44	0.39384	.	1.005850	0.07994	N	0.987698	T	0.06142	0.0159	N	0.04508	-0.205	0.31039	N	0.716531	P;P;P;P;P;P;B	0.42375	0.734;0.778;0.685;0.472;0.472;0.702;0.342	B;B;B;B;B;B;B	0.35240	0.069;0.135;0.06;0.072;0.141;0.198;0.022	T	0.13522	-1.0506	10	0.33141	T	0.24	.	7.8771	0.29599	0.0:0.1778:0.6389:0.1833	.	176;100;113;176;94;176;176	B4DGV6;B4DYU5;E7EPQ4;Q13105-2;F5H411;B2RCP2;Q13105	.;.;.;.;.;.;ZBT17_HUMAN	V	176;176;94;113	ENSP00000364895:A176V;ENSP00000364885:A176V;ENSP00000438529:A94V;ENSP00000391002:A113V	ENSP00000364885:A176V	A	-	2	0	ZBTB17	16145244	0.000000	0.05858	0.035000	0.18076	0.022000	0.10575	0.290000	0.18975	1.097000	0.41459	0.462000	0.41574	GCG		0.687	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		4	145	0	0	0	0	4	145				
BAI2	576	broad.mit.edu	37	1	32221927	32221927	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:32221927G>T	ENST00000373658.3	-	4	852	c.511C>A	c.(511-513)Cgc>Agc	p.R171S	BAI2_ENST00000527361.1_Missense_Mutation_p.R171S|BAI2_ENST00000398538.1_Missense_Mutation_p.R159S|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000257070.4_Missense_Mutation_p.R171S|BAI2_ENST00000398542.1_Missense_Mutation_p.R159S|BAI2_ENST00000398556.3_Missense_Mutation_p.R174S|BAI2_ENST00000373655.2_Missense_Mutation_p.R171S|BAI2_ENST00000398547.1_Missense_Mutation_p.R159S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	171					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCCAGCAGGCGCGGGGCCTCG	0.622																																						uc001btn.2		NA																	0				lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13						c.(511-513)CGC>AGC		brain-specific angiogenesis inhibitor 2							26.0	32.0	30.0					1																	32221927		2200	4293	6493	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32221927G>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.511C>A	1.37:g.32221927G>T	ENSP00000362762:p.Arg171Ser					BAI2_uc010ogp.1_Missense_Mutation_p.R159S|BAI2_uc010ogq.1_Missense_Mutation_p.R171S|BAI2_uc001bto.2_Missense_Mutation_p.R171S|BAI2_uc001btq.1_Missense_Mutation_p.R159S|BAI2_uc010ogr.1_Missense_Mutation_p.R159S	p.R171S	NM_001703	NP_001694	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	4	865	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	171			Extracellular (Potential).		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.511C>A	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165502	0.38217	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.43688	1.61;1.81;1.0;1.0;1.98;0.94;0.94;1.02;1.6;1.46	5.08	4.09	0.47781	.	0.000000	0.41500	D	0.000879	T	0.47746	0.1462	L	0.46157	1.445	0.80722	D	1	B;D;D;P;P;P	0.63880	0.189;0.993;0.965;0.79;0.776;0.941	B;P;P;B;B;P	0.60609	0.035;0.877;0.697;0.306;0.311;0.501	T	0.20538	-1.0272	10	0.14656	T	0.56	.	10.8336	0.46675	0.0:0.0:0.6574:0.3426	.	159;171;159;159;171;171	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	S	174;159;171;171;159;171;171;159;164;205	ENSP00000381564:R174S;ENSP00000381555:R159S;ENSP00000362762:R171S;ENSP00000362759:R171S;ENSP00000381550:R159S;ENSP00000257070:R171S;ENSP00000435397:R171S;ENSP00000381548:R159S;ENSP00000410921:R164S;ENSP00000437219:R205S	ENSP00000257070:R171S	R	-	1	0	BAI2	31994514	0.995000	0.38212	0.997000	0.53966	0.900000	0.52787	2.771000	0.47670	2.536000	0.85505	0.462000	0.41574	CGC		0.622	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		9	76	1	0	0.000442599	0.000472983	9	76				
TEKT2	27285	broad.mit.edu	37	1	36552864	36552864	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:36552864G>T	ENST00000207457.3	+	7	934	c.807G>T	c.(805-807)ctG>ctT	p.L269L	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	269					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGAAGCGGCTGCGGGAGATGG	0.542																																						uc001bzr.2		NA																	0					0						c.(805-807)CTG>CTT		tektin 2							63.0	67.0	66.0					1																	36552864		2203	4300	6503	SO:0001819	synonymous_variant	27285				cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus		g.chr1:36552864G>T	AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.807G>T	1.37:g.36552864G>T						TEKT2_uc001bzs.2_Silent_p.L175L|ADPRHL2_uc001bzt.2_5'Flank|ADPRHL2_uc001bzu.2_5'Flank	p.L269L	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN			7	934	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	269			Potential.		A6NIS6|O60638	Silent	SNP	ENST00000207457.3	37	c.807G>T	CCDS401.1	.	.	.	.	.	.	.	.	.	.	G	8.372	0.835617	0.16820	.	.	ENSG00000092850	ENST00000473120	.	.	.	5.49	1.18	0.20946	.	.	.	.	.	T	0.50939	0.1645	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36359	-0.9751	4	.	.	.	.	4.7131	0.12882	0.0674:0.2358:0.4019:0.2948	.	.	.	.	S	5	.	.	A	+	1	0	TEKT2	36325451	0.018000	0.18449	0.999000	0.59377	0.998000	0.95712	-1.079000	0.03410	0.212000	0.20703	0.563000	0.77884	GCG		0.542	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	NM_014466		13	50	1	0	2.62e-11	3.16e-11	13	50				
SLC6A9	6536	broad.mit.edu	37	1	44467985	44467985	+	Splice_Site	SNP	C	C	T	rs201870833		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:44467985C>T	ENST00000360584.2	-	8	1372	c.1181G>A	c.(1180-1182)cGg>cAg	p.R394Q	SLC6A9_ENST00000372307.3_Splice_Site_p.R256Q|SLC6A9_ENST00000372310.3_Splice_Site_p.R321Q|SLC6A9_ENST00000475075.2_Splice_Site_p.R210Q|SLC6A9_ENST00000372306.3_Splice_Site_p.R321Q|SLC6A9_ENST00000357730.2_Splice_Site_p.R340Q|SLC6A9_ENST00000537678.1_Splice_Site_p.R256Q	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	394					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GAGCACTCACCGGTAACAGTT	0.607																																						uc001cll.2		NA																	0					0						c.(1180-1182)CGG>CAG		solute carrier family 6 member 9 isoform 2	Glycine(DB00145)						84.0	79.0	80.0					1																	44467985		2203	4300	6503	SO:0001630	splice_region_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44467985C>T	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1181+1G>A	1.37:g.44467985C>T						SLC6A9_uc009vxe.2_Missense_Mutation_p.R250Q|SLC6A9_uc010okm.1_Missense_Mutation_p.R321Q|SLC6A9_uc001clm.2_Missense_Mutation_p.R340Q|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.R325Q|SLC6A9_uc001cln.2_Missense_Mutation_p.R321Q|SLC6A9_uc010oko.1_Missense_Mutation_p.R210Q|SLC6A9_uc010okp.1_RNA	p.R394Q	NM_201649	NP_964012	P48067	SC6A9_HUMAN			8	1373	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	394					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	c.1181G>A	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	C	35	5.481050	0.96307	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730;ENST00000537678	T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.87613	0.6221	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.99;0.99;0.988;0.988;1.0	D;P;P;P;P;D	0.87578	0.998;0.781;0.845;0.743;0.743;0.998	D	0.87180	0.2227	9	.	.	.	.	18.8705	0.92311	0.0:1.0:0.0:0.0	.	325;321;256;321;340;394	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	Q	256;321;321;210;394;340;256	ENSP00000361381:R256Q;ENSP00000361380:R321Q;ENSP00000361384:R321Q;ENSP00000434460:R210Q;ENSP00000353791:R394Q;ENSP00000350362:R340Q;ENSP00000442523:R256Q	.	R	-	2	0	SLC6A9	44240572	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.530000	0.81962	2.518000	0.84900	0.655000	0.94253	CGG		0.607	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649	Missense_Mutation	12	74	0	0	0	0	12	74				
DAB1	1600	broad.mit.edu	37	1	57537304	57537304	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:57537304A>G	ENST00000371231.1	-	5	483	c.449T>C	c.(448-450)gTt>gCt	p.V150A	DAB1_ENST00000439789.2_Intron|DAB1_ENST00000420954.2_Missense_Mutation_p.V150A|DAB1_ENST00000414851.2_Missense_Mutation_p.V150A|DAB1_ENST00000371230.1_Missense_Mutation_p.V150A|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Missense_Mutation_p.V150A|DAB1_ENST00000371234.4_Missense_Mutation_p.V150A			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	150	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GTCCAGAATAACAGGTTCAGC	0.418																																						uc001cys.1		NA																	0				skin(2)|ovary(1)	3						c.(448-450)GTT>GCT		disabled homolog 1							108.0	100.0	103.0					1																	57537304		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57537304A>G	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.449T>C	1.37:g.57537304A>G	ENSP00000360275:p.Val150Ala					DAB1_uc001cyt.1_Missense_Mutation_p.V150A|DAB1_uc001cyq.1_Missense_Mutation_p.V150A|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Missense_Mutation_p.V150A|DAB1_uc009vzx.1_Missense_Mutation_p.V150A	p.V150A	NM_021080	NP_066566	O75553	DAB1_HUMAN			8	1123	-			150			PID.		A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.449T>C		.	.	.	.	.	.	.	.	.	.	A	21.5	4.152937	0.78001	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000371231;ENST00000332102;ENST00000371230	T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.94	5.94	0.96194	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.051761	0.85682	D	0.000000	T	0.40040	0.1101	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.997;0.997	D;D;D;D	0.76575	0.946;0.988;0.972;0.98	T	0.07751	-1.0756	10	0.27082	T	0.32	-32.5537	16.4075	0.83691	1.0:0.0:0.0:0.0	.	150;150;150;150	O75553-4;O75553;O75553-6;O75553-5	.;DAB1_HUMAN;.;.	A	150	ENSP00000360280:V150A;ENSP00000360278:V150A;ENSP00000395296:V150A;ENSP00000387581:V150A;ENSP00000360275:V150A;ENSP00000329120:V150A;ENSP00000360274:V150A	ENSP00000329120:V150A	V	-	2	0	DAB1	57309892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.275000	0.75901	0.528000	0.53228	GTT		0.418	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		21	48	0	0	0	0	21	48				
LRRC7	57554	broad.mit.edu	37	1	70555441	70555441	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:70555441T>C	ENST00000035383.5	+	23	4400	c.4370T>C	c.(4369-4371)cTt>cCt	p.L1457P	LRRC7_ENST00000310961.5_Missense_Mutation_p.L1415P|LRRC7_ENST00000415775.2_Missense_Mutation_p.L741P	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1457	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AATCCTGGCCTTGGATTTAGT	0.289																																						uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(4369-4371)CTT>CCT		leucine rich repeat containing 7							96.0	99.0	98.0					1																	70555441		2202	4299	6501	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70555441T>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4370T>C	1.37:g.70555441T>C	ENSP00000035383:p.Leu1457Pro					LRRC7_uc009wbg.2_Missense_Mutation_p.L741P|LRRC7_uc001deq.2_Missense_Mutation_p.L651P	p.L1457P	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			23	4400	+			1457			PDZ.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.4370T>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.253787	0.80135	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.38240	1.15;1.15;1.15	5.48	5.48	0.80851	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.62539	0.2436	M	0.93016	3.37	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.998;0.999	T	0.73704	-0.3899	10	0.87932	D	0	.	14.3873	0.66953	0.0:0.0:0.0:1.0	.	741;1410;1457	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	P	1415;1457;741;1233	ENSP00000309245:L1415P;ENSP00000035383:L1457P;ENSP00000394867:L741P	ENSP00000035383:L1457P	L	+	2	0	LRRC7	70328029	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.379000	0.79691	2.077000	0.62373	0.482000	0.46254	CTT		0.289	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		22	114	0	0	0	0	22	114				
ZRANB2	9406	broad.mit.edu	37	1	71542527	71542527	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:71542527C>A	ENST00000370920.3	-	4	553	c.252G>T	c.(250-252)gaG>gaT	p.E84D	ZRANB2_ENST00000254821.6_Missense_Mutation_p.E84D	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	84					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						ACATATTACACTCTGATCTTC	0.269																																						uc001dft.2		NA																	0				ovary(2)	2						c.(250-252)GAG>GAT		zinc finger protein 265 isoform 1							114.0	119.0	117.0					1																	71542527		2202	4297	6499	SO:0001583	missense	9406				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:71542527C>A	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.252G>T	1.37:g.71542527C>A	ENSP00000359958:p.Glu84Asp					ZRANB2_uc001dfs.2_Missense_Mutation_p.E84D	p.E84D	NM_203350	NP_976225	O95218	ZRAB2_HUMAN			4	319	-			84			RanBP2-type 2.		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	ENST00000370920.3	37	c.252G>T	CCDS659.1	.	.	.	.	.	.	.	.	.	.	C	8.366	0.834310	0.16820	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.56941	0.43;0.43	5.27	1.06	0.20224	Zinc finger, RanBP2-type (4);	0.000000	0.85682	D	0.000000	T	0.48077	0.1480	L	0.53671	1.685	0.43852	D	0.996443	P;B	0.51057	0.941;0.335	D;B	0.71414	0.973;0.12	T	0.43278	-0.9401	10	0.23891	T	0.37	.	9.2256	0.37405	0.0:0.4718:0.0:0.5282	.	84;84	O95218;O95218-2	ZRAB2_HUMAN;.	D	84	ENSP00000359958:E84D;ENSP00000254821:E84D	ENSP00000254821:E84D	E	-	3	2	ZRANB2	71315115	0.611000	0.26992	1.000000	0.80357	0.314000	0.28054	-0.225000	0.09151	0.182000	0.20032	0.467000	0.42956	GAG		0.269	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		10	99	1	0	6.4e-05	6.99e-05	10	99				
ERICH3	127254	broad.mit.edu	37	1	75055489	75055489	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:75055489C>A	ENST00000326665.5	-	12	2220	c.2002G>T	c.(2002-2004)Gtt>Ttt	p.V668F	C1orf173_ENST00000420661.2_Missense_Mutation_p.V471F|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		668	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTTTAAGAACATTCTCAAAG	0.398																																						uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2002-2004)GTT>TTT		hypothetical protein LOC127254							151.0	150.0	150.0					1																	75055489		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75055489C>A																												ENST00000326665.5:c.2002G>T	1.37:g.75055489C>A	ENSP00000322609:p.Val668Phe					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.V462F	p.V668F	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			12	2221	-			668			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2002G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915878	0.52546	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.22336	2.28;1.96	5.35	-0.527	0.11909	.	.	.	.	.	T	0.13543	0.0328	L	0.50333	1.59	0.09310	N	1	D;D	0.63046	0.977;0.992	P;P	0.62813	0.803;0.907	T	0.06303	-1.0834	9	0.33141	T	0.24	-3.497	2.0345	0.03537	0.1321:0.4581:0.1452:0.2646	.	471;668	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	F	668;471	ENSP00000322609:V668F;ENSP00000398581:V471F	ENSP00000322609:V668F	V	-	1	0	C1orf173	74828077	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.953000	0.03877	-0.010000	0.14271	-0.234000	0.12200	GTT		0.398	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			22	149	1	0	3.01e-09	3.55e-09	22	149				
ST6GALNAC3	256435	broad.mit.edu	37	1	77094330	77094330	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:77094330T>C	ENST00000328299.3	+	5	905	c.757T>C	c.(757-759)Tac>Cac	p.Y253H		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	253					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AAAAGTCCCCTACCATTATTA	0.348																																						uc001dhh.2		NA																	0				ovary(3)|skin(2)	5						c.(757-759)TAC>CAC		sialyltransferase 7C isoform 1							70.0	70.0	70.0					1																	77094330		2203	4298	6501	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77094330T>C		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.757T>C	1.37:g.77094330T>C	ENSP00000329214:p.Tyr253His					ST6GALNAC3_uc010orh.1_Missense_Mutation_p.Y152H	p.Y253H	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			5	920	+			253			Lumenal (Potential).		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.757T>C	CCDS672.1	.	.	.	.	.	.	.	.	.	.	t	18.91	3.722630	0.68959	.	.	ENSG00000184005	ENST00000328299;ENST00000394993;ENST00000415813	T	0.26810	1.71	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.36936	0.0985	L	0.58583	1.82	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.05241	-1.0897	10	0.30854	T	0.27	-9.0829	15.9845	0.80142	0.0:0.0:0.0:1.0	.	152;253	B4DM98;Q8NDV1	.;SIA7C_HUMAN	H	253;252;151	ENSP00000329214:Y253H	ENSP00000329214:Y253H	Y	+	1	0	ST6GALNAC3	76866918	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.637000	0.83313	2.229000	0.72834	0.524000	0.50904	TAC		0.348	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		17	77	0	0	0	0	17	77				
COL24A1	255631	broad.mit.edu	37	1	86426969	86426969	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:86426969A>G	ENST00000370571.2	-	24	2891	c.2525T>C	c.(2524-2526)gTa>gCa	p.V842A	COL24A1_ENST00000436319.1_Missense_Mutation_p.V842A	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	842	Collagen-like 5.			GYAGEPGPEGLKGEVGDQGNIG -> ITVFATLYSFLTGRS RRSRKYW (in Ref. 5; BAD92923). {ECO:0000305}.	extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTGATCTCCTACTTCTCCCTG	0.269																																						uc001dlj.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2524-2526)GTA>GCA		collagen, type XXIV, alpha 1 precursor							94.0	91.0	92.0					1																	86426969		1797	4057	5854	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86426969A>G	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2525T>C	1.37:g.86426969A>G	ENSP00000359603:p.Val842Ala					COL24A1_uc001dli.2_5'UTR|COL24A1_uc010osd.1_Missense_Mutation_p.V142A|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	p.V842A	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	24	2567	-			842	GYAGEPGPEGLKGEVGDQGNIG -> ITVFATLYSFLTGRS RRSRKYW (in Ref. 5; BAD92923).		Collagen-like 5.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.2525T>C	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	A	9.132	1.011770	0.19277	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.93076	-3.16;-3.16	4.74	2.0	0.26442	.	.	.	.	.	T	0.66366	0.2782	N	0.05280	-0.08	0.27686	N	0.946298	B	0.20459	0.045	B	0.22152	0.038	T	0.59440	-0.7454	9	0.09590	T	0.72	.	6.6909	0.23171	0.7455:0.0:0.2545:0.0	.	842	Q17RW2	COOA1_HUMAN	A	842	ENSP00000359603:V842A;ENSP00000392531:V842A	ENSP00000359603:V842A	V	-	2	0	COL24A1	86199557	0.997000	0.39634	0.990000	0.47175	0.992000	0.81027	0.726000	0.25984	0.734000	0.32515	0.533000	0.62120	GTA		0.269	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		26	84	0	0	0	0	26	84				
BARHL2	343472	broad.mit.edu	37	1	91182748	91182748	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:91182748G>T	ENST00000370445.4	-	1	46	c.5C>A	c.(4-6)aCa>aAa	p.T2K		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	2					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CCCTTCCATTGTCATTGCTAC	0.527																																					GBM(199;3561 4100 22440)	uc001dns.2		NA																	0				ovary(1)	1						c.(4-6)ACA>AAA		BarH-like homeobox 2							79.0	85.0	83.0					1																	91182748		2202	4300	6502	SO:0001583	missense	343472					nucleus	sequence-specific DNA binding	g.chr1:91182748G>T	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.5C>A	1.37:g.91182748G>T	ENSP00000359474:p.Thr2Lys						p.T2K	NM_020063	NP_064447	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	1	47	-		all_lung(203;0.0263)|Lung SC(238;0.128)	2					A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	c.5C>A	CCDS730.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.108467	0.56291	.	.	ENSG00000143032	ENST00000370445	D	0.90197	-2.63	5.78	5.78	0.91487	.	0.332965	0.28504	N	0.015116	D	0.86218	0.5880	N	0.08118	0	0.25418	N	0.988292	D	0.57899	0.981	D	0.67231	0.95	T	0.83308	-0.0024	10	0.59425	D	0.04	.	15.5818	0.76448	0.0:0.0:1.0:0.0	.	2	Q9NY43	BARH2_HUMAN	K	2	ENSP00000359474:T2K	ENSP00000359474:T2K	T	-	2	0	BARHL2	90955336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.765000	0.62271	2.749000	0.94314	0.644000	0.83932	ACA		0.527	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			17	136	1	0	1.45e-14	1.8e-14	17	136				
HFM1	164045	broad.mit.edu	37	1	91781966	91781966	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:91781966A>T	ENST00000370425.3	-	26	2978	c.2880T>A	c.(2878-2880)gaT>gaA	p.D960E	HFM1_ENST00000370424.3_Missense_Mutation_p.D639E|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.D192E	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	960	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTCCCTTGCATCTGTCTCTT	0.299																																						uc001doa.3		NA																	0					0						c.(2878-2880)GAT>GAA		HFM1 protein							85.0	87.0	87.0					1																	91781966		2202	4289	6491	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91781966A>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2880T>A	1.37:g.91781966A>T	ENSP00000359454:p.Asp960Glu					HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.D639E|HFM1_uc001dob.3_Missense_Mutation_p.D148E|HFM1_uc010osv.1_Missense_Mutation_p.D644E	p.D960E	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	26	2980	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	960			SEC63.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.2880T>A	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.735|6.735	0.504330|0.504330	0.12822|0.12822	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421|ENST00000430465	T;T;T|.	0.59638|.	0.25;0.25;0.25|.	5.07|5.07	5.07|5.07	0.68467|0.68467	Sec63 domain (2);|.	0.222747|.	0.45361|.	D|.	0.000376|.	T|T	0.17323|0.17323	0.0416|0.0416	N|N	0.16478|0.16478	0.41|0.41	0.27656|0.27656	N|N	0.947224|0.947224	B;B;B|.	0.27997|.	0.056;0.197;0.098|.	B;B;B|.	0.30105|.	0.032;0.111;0.111|.	T|T	0.21314|0.21314	-1.0249|-1.0249	10|5	0.25751|.	T|.	0.34|.	.|.	14.8247|14.8247	0.70101|0.70101	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	639;171;960|.	A6NGI5;B1B0B5;A2PYH4|.	.;.;HFM1_HUMAN|.	E|K	960;192;639;644|172	ENSP00000359454:D960E;ENSP00000294696:D192E;ENSP00000359453:D639E|.	ENSP00000294696:D192E|.	D|M	-|-	3|2	2|0	HFM1|HFM1	91554554|91554554	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.739000|5.739000	0.68622|0.68622	1.885000|1.885000	0.54596|0.54596	0.455000|0.455000	0.32223|0.32223	GAT|ATG		0.299	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		48	122	0	0	0	0	48	122				
SLC44A3	126969	broad.mit.edu	37	1	95322999	95322999	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:95322999T>A	ENST00000271227.6	+	10	1283	c.1181T>A	c.(1180-1182)aTc>aAc	p.I394N	SLC44A3_ENST00000532427.1_Missense_Mutation_p.I314N|SLC44A3_ENST00000529450.1_Missense_Mutation_p.I362N|RP11-465K1.2_ENST00000422162.1_RNA|SLC44A3_ENST00000446120.2_Missense_Mutation_p.I358N|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000527077.1_Missense_Mutation_p.I326N|SLC44A3_ENST00000467909.1_Missense_Mutation_p.I346N	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	394					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	AGTGAATTCATCCTTGCGTGC	0.448																																						uc001dqv.3		NA																	0				kidney(1)	1						c.(1180-1182)ATC>AAC		solute carrier family 44, member 3 isoform 1	Choline(DB00122)						190.0	171.0	178.0					1																	95322999		2203	4300	6503	SO:0001583	missense	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95322999T>A	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1181T>A	1.37:g.95322999T>A	ENSP00000271227:p.Ile394Asn					SLC44A3_uc001dqx.3_Missense_Mutation_p.I394N|SLC44A3_uc010otq.1_Missense_Mutation_p.I326N|SLC44A3_uc010otr.1_Missense_Mutation_p.I358N|SLC44A3_uc001dqw.3_Missense_Mutation_p.I346N|SLC44A3_uc010ots.1_Missense_Mutation_p.I314N|SLC44A3_uc009wds.2_Missense_Mutation_p.I297N|SLC44A3_uc010ott.1_Missense_Mutation_p.I314N|SLC44A3_uc010otu.1_RNA	p.I394N	NM_001114106	NP_001107578	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	10	1288	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	394			Helical; (Potential).		B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	c.1181T>A	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.352715	0.82132	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000019	T	0.52041	0.1710	M	0.86502	2.82	0.52099	D	0.999944	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.996	D;D;D;D;D	0.76071	0.979;0.987;0.979;0.979;0.948	T	0.62445	-0.6853	10	0.87932	D	0	-18.3091	13.6816	0.62489	0.0:0.0:0.0:1.0	.	314;358;326;362;394	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	N	358;394;326;362;346;314	ENSP00000389143:I358N;ENSP00000271227:I394N;ENSP00000433641:I326N;ENSP00000431836:I362N;ENSP00000432789:I346N;ENSP00000436661:I314N	ENSP00000271227:I394N	I	+	2	0	SLC44A3	95095587	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.303000	0.78871	2.031000	0.59945	0.528000	0.53228	ATC		0.448	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		64	166	0	0	0	0	64	166				
SLC44A3	126969	broad.mit.edu	37	1	95332973	95332973	+	Splice_Site	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:95332973G>C	ENST00000271227.6	+	12	1584	c.1482G>C	c.(1480-1482)caG>caC	p.Q494H	SLC44A3_ENST00000532427.1_Splice_Site_p.Q414H|SLC44A3_ENST00000529450.1_Splice_Site_p.Q461H|SLC44A3_ENST00000446120.2_Splice_Site_p.Q458H|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000527077.1_Splice_Site_p.Q426H|SLC44A3_ENST00000467909.1_Splice_Site_p.Q446H	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	494					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	ATCTCAACCAGGTACGTCTCT	0.493																																						uc001dqv.3		NA																	0				kidney(1)	1						c.(1480-1482)CAG>CAC		solute carrier family 44, member 3 isoform 1	Choline(DB00122)						190.0	145.0	160.0					1																	95332973		2203	4300	6503	SO:0001630	splice_region_variant	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95332973G>C	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1482+1G>C	1.37:g.95332973G>C						SLC44A3_uc001dqx.3_Missense_Mutation_p.Q493H|SLC44A3_uc010otq.1_Missense_Mutation_p.Q426H|SLC44A3_uc010otr.1_Missense_Mutation_p.Q458H|SLC44A3_uc001dqw.3_Missense_Mutation_p.Q446H|SLC44A3_uc010ots.1_Missense_Mutation_p.Q414H|SLC44A3_uc009wds.2_Missense_Mutation_p.Q397H|SLC44A3_uc010ott.1_Missense_Mutation_p.Q413H|SLC44A3_uc010otu.1_RNA	p.Q494H	NM_001114106	NP_001107578	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	12	1589	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	494					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	c.1482G>C	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513268	0.64522	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427;ENST00000532670	T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000012	T	0.25644	0.0624	N	0.25201	0.72	0.51767	D	0.999939	D;B;D;D;D	0.89917	1.0;0.036;1.0;1.0;0.97	D;B;D;D;P	0.91635	0.999;0.036;0.999;0.999;0.89	T	0.02156	-1.1204	10	0.32370	T	0.25	-7.8894	19.9906	0.97362	0.0:0.0:1.0:0.0	.	414;458;426;461;494	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	H	458;494;426;461;446;414;29	ENSP00000389143:Q458H;ENSP00000271227:Q494H;ENSP00000433641:Q426H;ENSP00000431836:Q461H;ENSP00000432789:Q446H;ENSP00000436661:Q414H;ENSP00000432880:Q29H	ENSP00000271227:Q494H	Q	+	3	2	SLC44A3	95105561	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	4.506000	0.60428	2.822000	0.97130	0.563000	0.77884	CAG		0.493	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369	Missense_Mutation	25	165	0	0	0	0	25	165				
AMY2B	280	broad.mit.edu	37	1	104114736	104114736	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:104114736C>G	ENST00000361355.4	+	4	789	c.173C>G	c.(172-174)tCt>tGt	p.S58C	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	58					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTGTAGGTCTCTCCACCAAAT	0.313																																						uc001duq.2		NA																	0					0						c.(172-174)TCT>TGT		amylase, pancreatic, alpha-2B precursor							133.0	130.0	131.0					1																	104114736		2203	4300	6503	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104114736C>G	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.173C>G	1.37:g.104114736C>G	ENSP00000354610:p.Ser58Cys					AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.S58C	p.S58C	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	4	789	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	58					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.173C>G	CCDS782.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056725	0.55325	.	.	ENSG00000240038	ENST00000361355;ENST00000435302;ENST00000453959	D	0.98732	-5.1	4.65	4.65	0.58169	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99480	0.9815	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98122	1.0426	10	0.87932	D	0	.	17.5357	0.87830	0.0:1.0:0.0:0.0	.	58	P19961	AMY2B_HUMAN	C	58	ENSP00000354610:S58C	ENSP00000354610:S58C	S	+	2	0	AMY2B	103916259	1.000000	0.71417	0.741000	0.31004	0.233000	0.25261	7.754000	0.85163	2.105000	0.64084	0.460000	0.39030	TCT		0.313	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		50	282	0	0	0	0	50	282				
AMY2B	280	broad.mit.edu	37	1	104115822	104115822	+	Silent	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:104115822T>C	ENST00000361355.4	+	5	1069	c.453T>C	c.(451-453)ttT>ttC	p.F151F	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	151					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GATGGGATTTTAATGATGGTA	0.408																																						uc001duq.2		NA																	0					0						c.(451-453)TTT>TTC		amylase, pancreatic, alpha-2B precursor							201.0	216.0	211.0					1																	104115822		2203	4294	6497	SO:0001819	synonymous_variant	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104115822T>C	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.453T>C	1.37:g.104115822T>C						AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Silent_p.F151F|AMY2B_uc001dus.1_5'Flank	p.F151F	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	5	1069	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	151					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Silent	SNP	ENST00000361355.4	37	c.453T>C	CCDS782.1																																																																																				0.408	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		76	795	0	0	0	0	76	795				
PRMT6	55170	broad.mit.edu	37	1	107600360	107600360	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:107600360C>G	ENST00000370078.1	+	1	1060	c.1023C>G	c.(1021-1023)atC>atG	p.I341M	PRMT6_ENST00000361318.5_Missense_Mutation_p.I282M			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	341	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CAGGAGAGATCACGCTGCTGC	0.617																																						uc010ous.1		NA																	0					0						c.(1021-1023)ATC>ATG		protein arginine methyltransferase 6							39.0	43.0	42.0					1																	107600360		2023	4178	6201	SO:0001583	missense	55170				base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr1:107600360C>G	AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.1023C>G	1.37:g.107600360C>G	ENSP00000359095:p.Ile341Met						p.I341M	NM_018137	NP_060607	Q96LA8	ANM6_HUMAN		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)	1	1094	+		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)	341					A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Missense_Mutation	SNP	ENST00000370078.1	37	c.1023C>G	CCDS41360.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.54|18.54	3.646013|3.646013	0.67358|0.67358	.|.	.|.	ENSG00000198890|ENSG00000198890	ENST00000540389|ENST00000361318;ENST00000370078	.|T;T	.|0.23950	.|1.88;1.88	5.4|5.4	4.48|4.48	0.54585|0.54585	.|.	.|0.198053	.|0.43416	.|D	.|0.000575	T|T	0.19525|0.19525	0.0469|0.0469	M|M	0.74881|0.74881	2.28|2.28	0.39756|0.39756	D|D	0.971959|0.971959	.|P	.|0.38800	.|0.648	.|B	.|0.41466	.|0.358	T|T	0.02805|0.02805	-1.1108|-1.1108	6|10	0.87932|0.27082	D|T	0|0.32	-14.5716|-14.5716	13.2916|13.2916	0.60274|0.60274	0.1595:0.8405:0.0:0.0|0.1595:0.8405:0.0:0.0	.|.	.|341	.|Q96LA8	.|ANM6_HUMAN	D|M	235|282;341	.|ENSP00000355145:I282M;ENSP00000359095:I341M	ENSP00000440829:H235D|ENSP00000355145:I282M	H|I	+|+	1|3	0|3	PRMT6|PRMT6	107401883|107401883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.683000|0.683000	0.25349|0.25349	1.266000|1.266000	0.44231|0.44231	0.542000|0.542000	0.68232|0.68232	CAC|ATC		0.617	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	NM_018137		9	45	0	0	0	0	9	45				
NES	10763	broad.mit.edu	37	1	156641773	156641773	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:156641773A>G	ENST00000368223.3	-	4	2339	c.2207T>C	c.(2206-2208)cTa>cCa	p.L736P		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	736	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCTGTTTCTAGAGGTCTCAC	0.428																																						uc001fpq.2		NA																	0				ovary(6)	6						c.(2206-2208)CTA>CCA		nestin							117.0	118.0	118.0					1																	156641773		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156641773A>G	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2207T>C	1.37:g.156641773A>G	ENSP00000357206:p.Leu736Pro						p.L736P	NM_006617	NP_006608	P48681	NEST_HUMAN			4	2340	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		736			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.2207T>C	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.448891	0.26074	.	.	ENSG00000132688	ENST00000368223	D	0.88124	-2.34	5.0	-4.02	0.04034	.	.	.	.	.	T	0.68118	0.2966	L	0.55990	1.75	0.20563	N	0.999885	B	0.25441	0.126	B	0.22152	0.038	T	0.64019	-0.6505	9	0.87932	D	0	.	6.1878	0.20508	0.2394:0.0:0.4986:0.262	.	736	P48681	NEST_HUMAN	P	736	ENSP00000357206:L736P	ENSP00000357206:L736P	L	-	2	0	NES	154908397	0.001000	0.12720	0.005000	0.12908	0.145000	0.21501	0.262000	0.18460	-0.280000	0.09154	-0.371000	0.07208	CTA		0.428	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		66	202	0	0	0	0	66	202				
CD1A	909	broad.mit.edu	37	1	158224885	158224885	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:158224885C>A	ENST00000289429.5	+	2	603	c.70C>A	c.(70-72)Cct>Act	p.P24T		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	24					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GCTCAAGGAGCCTCTCTCCTT	0.483																																						uc001frt.2		NA																	0				pancreas(2)|skin(1)	3						c.(70-72)CCT>ACT		CD1A antigen precursor	Antithymocyte globulin(DB00098)						124.0	107.0	113.0					1																	158224885		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158224885C>A	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.70C>A	1.37:g.158224885C>A	ENSP00000289429:p.Pro24Thr						p.P24T	NM_001763	NP_001754	P06126	CD1A_HUMAN			2	603	+	all_hematologic(112;0.0378)		24			Extracellular (Potential).		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.70C>A	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139064	0.37728	.	.	ENSG00000158477	ENST00000289429	T	0.06687	3.27	4.54	1.61	0.23674	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.237073	0.22001	N	0.066005	T	0.10551	0.0258	M	0.84433	2.695	0.09310	N	1	P	0.43352	0.804	P	0.55871	0.786	T	0.09975	-1.0650	10	0.56958	D	0.05	-10.0585	4.3752	0.11267	0.0:0.6066:0.1877:0.2057	.	24	P06126	CD1A_HUMAN	T	24	ENSP00000289429:P24T	ENSP00000289429:P24T	P	+	1	0	CD1A	156491509	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.060000	0.11712	0.169000	0.19679	0.585000	0.79938	CCT		0.483	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		4	188	1	0	0.000602214	0.000640275	4	188				
OR10K2	391107	broad.mit.edu	37	1	158389862	158389862	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:158389862G>C	ENST00000314902.2	-	1	794	c.795C>G	c.(793-795)aaC>aaG	p.N265K		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TTGAGGAGTAGTTGGACTGAG	0.398																																						uc010pii.1		NA																	0				pancreas(1)	1						c.(793-795)AAC>AAG		olfactory receptor, family 10, subfamily K,							112.0	110.0	111.0					1																	158389862		2203	4300	6503	SO:0001583	missense	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158389862G>C	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.795C>G	1.37:g.158389862G>C	ENSP00000324251:p.Asn265Lys						p.N265K	NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN			1	795	-	all_hematologic(112;0.0378)		265			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000314902.2	37	c.795C>G	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.590024	0.00126	.	.	ENSG00000180708	ENST00000314902	T	0.00063	8.78	4.23	1.16	0.20824	GPCR, rhodopsin-like superfamily (1);	0.449691	0.18655	N	0.134895	T	0.00012	0.0000	N	0.03071	-0.42	0.09310	N	1	B	0.28470	0.213	B	0.24848	0.056	T	0.12344	-1.0551	10	0.12103	T	0.63	.	0.8519	0.01174	0.2607:0.1681:0.3987:0.1725	.	265	Q6IF99	O10K2_HUMAN	K	265	ENSP00000324251:N265K	ENSP00000324251:N265K	N	-	3	2	OR10K2	156656486	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.145000	0.10265	0.136000	0.18733	-1.077000	0.02231	AAC		0.398	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		41	96	0	0	0	0	41	96				
SPTA1	6708	broad.mit.edu	37	1	158585170	158585170	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:158585170C>T	ENST00000368147.4	-	48	6804	c.6624G>A	c.(6622-6624)gcG>gcA	p.A2208A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2208					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GACGCTTCATCGCCTGGATCT	0.468																																						uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6622-6624)GCG>GCA		spectrin, alpha, erythrocytic 1							155.0	150.0	152.0					1																	158585170		1924	4142	6066	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158585170C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6624G>A	1.37:g.158585170C>T							p.A2208A	NM_003126	NP_003117	P02549	SPTA1_HUMAN			48	6823	-	all_hematologic(112;0.0378)		2208			Spectrin 21.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.6624G>A	CCDS41423.1																																																																																				0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		92	198	0	0	0	0	92	198				
OR6K2	81448	broad.mit.edu	37	1	158669837	158669837	+	Silent	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:158669837G>C	ENST00000359610.2	-	1	649	c.606C>G	c.(604-606)gtC>gtG	p.V202V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V202V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CTGCATGAATGACATCCACTA	0.483																																						uc001fsu.1		NA																	1	Substitution - coding silent(1)		prostate(1)	pancreas(1)	1						c.(604-606)GTC>GTG		olfactory receptor, family 6, subfamily K,							169.0	135.0	146.0					1																	158669837		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669837G>C	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.606C>G	1.37:g.158669837G>C							p.V202V	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	606	-	all_hematologic(112;0.0378)		202			Helical; Name=5; (Potential).		B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.606C>G	CCDS30902.1																																																																																				0.483	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		33	115	0	0	0	0	33	115				
IGSF9	57549	broad.mit.edu	37	1	159897613	159897613	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:159897613G>A	ENST00000368094.1	-	20	3492	c.3295C>T	c.(3295-3297)Ctg>Ttg	p.L1099L	TAGLN2_ENST00000368097.4_5'Flank|IGSF9_ENST00000361509.3_Silent_p.L1083L|IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000478033.1_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1099					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AAAGTCTCCAGCAATTCCATG	0.527																																						uc001fur.2		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)	5						c.(3295-3297)CTG>TTG		immunoglobulin superfamily, member 9 isoform a							51.0	52.0	51.0					1																	159897613		2203	4300	6503	SO:0001819	synonymous_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159897613G>A	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.3295C>T	1.37:g.159897613G>A						IGSF9_uc001fuq.2_Silent_p.L1083L|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.L245L	p.L1099L	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		20	3493	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	1099			Cytoplasmic (Potential).			Silent	SNP	ENST00000368094.1	37	c.3295C>T	CCDS44254.1																																																																																				0.527	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		32	103	0	0	0	0	32	103				
RXRG	6258	broad.mit.edu	37	1	165380003	165380004	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:165380003_165380004CC>AT	ENST00000359842.5	-	6	1150_1151	c.848_849GG>AT	c.(847-849)tGG>tAT	p.W283Y	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	283	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	TACGCTTGGCCCATTCAACGAG	0.49																																						uc001gda.2		NA																	0					0						c.(847-849)TGG>TAT		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)																																			SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165380003_165380004CC>AT	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.848_849delinsAT	1.37:g.165380003_165380004delinsAT	ENSP00000352900:p.Trp283Tyr						p.W283Y	NM_006917	NP_008848	P48443	RXRG_HUMAN			6	1148_1149	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		283			Ligand-binding (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	DNP	ENST00000359842.5	37	c.848_849GG>AT	CCDS1248.1																																																																																				0.490	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		7	47	0	0	0	0	7	47				
QSOX1	5768	broad.mit.edu	37	1	180165686	180165686	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:180165686G>T	ENST00000367602.3	+	12	1832	c.1758G>T	c.(1756-1758)atG>atT	p.M586I	QSOX1_ENST00000367600.5_Missense_Mutation_p.M586I			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	586					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGAGATGATGAAGTCCCCCA	0.637																																						uc001gnz.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1756-1758)ATG>ATT		quiescin Q6 sulfhydryl oxidase 1 isoform a							81.0	83.0	82.0					1																	180165686		2203	4300	6503	SO:0001583	missense	5768				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	g.chr1:180165686G>T	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.1758G>T	1.37:g.180165686G>T	ENSP00000356574:p.Met586Ile					QSOX1_uc001gny.2_Missense_Mutation_p.M586I|QSOX1_uc001goa.2_Missense_Mutation_p.M586I|QSOX1_uc001goc.2_Missense_Mutation_p.M128I|FLJ23867_uc001god.3_5'Flank	p.M586I	NM_002826	NP_002817	O00391	QSOX1_HUMAN			12	1833	+			586					Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	ENST00000367602.3	37	c.1758G>T	CCDS1337.1	.	.	.	.	.	.	.	.	.	.	G	9.323	1.058579	0.19987	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.04454	3.71;3.62	4.37	-4.07	0.03975	.	2.832820	0.01498	N	0.017361	T	0.03827	0.0108	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.17038	0.0;0.0;0.02;0.0	B;B;B;B	0.16289	0.001;0.0;0.015;0.0	T	0.41070	-0.9529	10	0.29301	T	0.29	3.5047	6.7783	0.23632	0.2961:0.2862:0.4177:0.0	.	586;586;586;586	A8K4C2;A8K477;O00391;O00391-2	.;.;QSOX1_HUMAN;.	I	586	ENSP00000356574:M586I;ENSP00000356572:M586I	ENSP00000356572:M586I	M	+	3	0	QSOX1	178432309	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.973000	0.00164	-0.782000	0.04541	-0.416000	0.06073	ATG		0.637	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		45	132	1	0	2.21e-33	2.92e-33	45	132				
LAMC1	3915	broad.mit.edu	37	1	183105651	183105651	+	Silent	SNP	T	T	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:183105651T>G	ENST00000258341.4	+	25	4502	c.4245T>G	c.(4243-4245)gcT>gcG	p.A1415A	RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1415	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TGGGCAGTGCTGCGGCGGATG	0.592																																						uc001gpy.3		NA																	0				ovary(3)|large_intestine(1)|kidney(1)	5						c.(4243-4245)GCT>GCG		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						55.0	57.0	57.0					1																	183105651		2203	4300	6503	SO:0001819	synonymous_variant	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183105651T>G	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4245T>G	1.37:g.183105651T>G							p.A1415A	NM_002293	NP_002284	P11047	LAMC1_HUMAN			25	4502	+			1415			Potential.|Domain II and I.		Q5VYE7	Silent	SNP	ENST00000258341.4	37	c.4245T>G	CCDS1351.1																																																																																				0.592	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		4	53	0	0	0	0	4	53				
ZBTB41	360023	broad.mit.edu	37	1	197128771	197128771	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:197128771C>T	ENST00000367405.4	-	10	2516	c.2448G>A	c.(2446-2448)caG>caA	p.Q816Q	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	816					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGTCAGGCATCTGAACTGGAA	0.463																																						uc001gtx.1		NA																	0				ovary(1)|skin(1)	2						c.(2446-2448)CAG>CAA		zinc finger and BTB domain containing 41							184.0	170.0	174.0					1																	197128771		2203	4300	6503	SO:0001819	synonymous_variant	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197128771C>T		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.2448G>A	1.37:g.197128771C>T						ZBTB41_uc009wyz.1_RNA	p.Q816Q	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN			10	2517	-			816					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Silent	SNP	ENST00000367405.4	37	c.2448G>A	CCDS30960.1																																																																																				0.463	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		52	120	0	0	0	0	52	120				
CRB1	23418	broad.mit.edu	37	1	197390919	197390919	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:197390919C>T	ENST00000367400.3	+	6	2096	c.1961C>T	c.(1960-1962)aCc>aTc	p.T654I	CRB1_ENST00000538660.1_Missense_Mutation_p.T654I|CRB1_ENST00000544212.1_Missense_Mutation_p.T135I|CRB1_ENST00000367397.1_Missense_Mutation_p.T35I|CRB1_ENST00000535699.1_Missense_Mutation_p.T585I|CRB1_ENST00000367399.2_Missense_Mutation_p.T542I|CRB1_ENST00000543483.1_Missense_Mutation_p.P284S	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	654	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AATCACATTACCCTGGAGAAC	0.448																																						uc001gtz.2		NA																	0		p.T654T(1)		ovary(5)|skin(3)|large_intestine(1)	9	GRCh37	CM057652	CRB1	M		c.(1960-1962)ACC>ATC		crumbs homolog 1 precursor							138.0	131.0	133.0					1																	197390919		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390919C>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1961C>T	1.37:g.197390919C>T	ENSP00000356370:p.Thr654Ile					CRB1_uc010poz.1_Missense_Mutation_p.T585I|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.T542I|CRB1_uc010ppb.1_Missense_Mutation_p.T654I|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.T135I|CRB1_uc001gub.1_Missense_Mutation_p.T303I	p.T654I	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	2096	+			654			Extracellular (Potential).|Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1961C>T	CCDS1390.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.013|0.013	-1.619515|-1.619515	0.00828|0.00828	.|.	.|.	ENSG00000134376|ENSG00000134376	ENST00000543483|ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D|T;T;T;T;T;T	0.86230|0.79554	-2.09|-1.28;-1.28;-1.28;-1.28;-1.28;0.86	5.9|5.9	3.04|3.04	0.35103|0.35103	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.|.	.|.	.|.	.|.	D|D	0.83667|0.83667	0.5304|0.5304	L|L	0.45137|0.45137	1.4|1.4	0.09310|0.09310	N|N	0.999999|0.999999	.|B;P;D;B;P	.|0.89917	.|0.349;0.793;1.0;0.037;0.818	.|B;B;D;B;B	.|0.85130	.|0.13;0.315;0.997;0.041;0.386	T|T	0.71341|0.71341	-0.4622|-0.4622	7|9	0.09590|0.31617	T|T	0.72|0.26	.|.	9.5024|9.5024	0.39026|0.39026	0.0:0.7232:0.0:0.2768|0.0:0.7232:0.0:0.2768	.|.	.|654;585;542;303;654	.|B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.|.;.;.;.;CRUM1_HUMAN	S|I	284|585;654;654;542;135;35;303	ENSP00000439579:P284S|ENSP00000438786:T585I;ENSP00000438091:T654I;ENSP00000356370:T654I;ENSP00000356369:T542I;ENSP00000444556:T135I;ENSP00000356367:T35I	ENSP00000439579:P284S|ENSP00000356367:T35I	P|T	+|+	1|2	0|0	CRB1|CRB1	195657542|195657542	0.937000|0.937000	0.31787|0.31787	0.010000|0.010000	0.14722|0.14722	0.082000|0.082000	0.17680|0.17680	1.794000|1.794000	0.38774|0.38774	0.840000|0.840000	0.34995|0.34995	0.650000|0.650000	0.86243|0.86243	CCC|ACC		0.448	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		68	218	0	0	0	0	68	218				
CRB1	23418	broad.mit.edu	37	1	197404293	197404293	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:197404293A>G	ENST00000367400.3	+	9	3435	c.3300A>G	c.(3298-3300)atA>atG	p.I1100M	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.I581M|CRB1_ENST00000367397.1_Missense_Mutation_p.I481M|CRB1_ENST00000535699.1_Missense_Mutation_p.I1076M|CRB1_ENST00000367399.2_Missense_Mutation_p.I988M|RP11-75C23.1_ENST00000422250.1_RNA	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1100	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.		I -> R (in LCA8). {ECO:0000269|PubMed:11389483}.|I -> T (in RP12). {ECO:0000269|PubMed:12843338, ECO:0000269|PubMed:15459956}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAAGTACAATAGAAATCGGAG	0.368																																						uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(3298-3300)ATA>ATG		crumbs homolog 1 precursor							59.0	63.0	62.0					1																	197404293		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197404293A>G		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3300A>G	1.37:g.197404293A>G	ENSP00000356370:p.Ile1100Met					CRB1_uc010poz.1_Missense_Mutation_p.I1076M|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.I988M|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.I581M|CRB1_uc001gub.1_Missense_Mutation_p.I749M	p.I1100M	NM_201253	NP_957705	P82279	CRUM1_HUMAN			9	3435	+			1100		I -> R (in LCA8).|I -> T (in RP12).	Extracellular (Potential).|Laminin G-like 3.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.3300A>G	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.430822	0.43122	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	5.7	4.55	0.56014	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.83330	0.5231	M	0.75447	2.3	0.38383	D	0.94519	D;D;D;D	0.62365	0.989;0.98;0.989;0.991	P;P;P;P	0.62740	0.847;0.837;0.882;0.906	T	0.82438	-0.0457	9	0.38643	T	0.18	.	6.2783	0.20993	0.7738:0.0:0.0735:0.1526	.	1076;988;749;1100	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	M	1076;1100;988;581;481;749	ENSP00000438786:I1076M;ENSP00000356370:I1100M;ENSP00000356369:I988M;ENSP00000444556:I581M;ENSP00000356367:I481M	ENSP00000356367:I481M	I	+	3	3	CRB1	195670916	0.999000	0.42202	0.985000	0.45067	0.669000	0.39330	0.711000	0.25764	0.940000	0.37473	0.528000	0.53228	ATA		0.368	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		47	119	0	0	0	0	47	119				
IPO9	55705	broad.mit.edu	37	1	201839980	201839980	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:201839980C>T	ENST00000361565.4	+	18	2472	c.2403C>T	c.(2401-2403)gtC>gtT	p.V801V		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	801					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CGCTCAGTGTCATGCAGGTAA	0.498																																						uc001gwz.2		NA																	0				ovary(2)	2						c.(2401-2403)GTC>GTT		importin 9							47.0	47.0	47.0					1																	201839980		2203	4300	6503	SO:0001819	synonymous_variant	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201839980C>T	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2403C>T	1.37:g.201839980C>T							p.V801V	NM_018085	NP_060555	Q96P70	IPO9_HUMAN			18	2453	+			801					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Silent	SNP	ENST00000361565.4	37	c.2403C>T	CCDS1415.1																																																																																				0.498	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		12	70	0	0	0	0	12	70				
IKBKE	9641	broad.mit.edu	37	1	206648211	206648211	+	Missense_Mutation	SNP	G	G	A	rs202128741		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:206648211G>A	ENST00000367120.3	+	5	605	c.232G>A	c.(232-234)Gga>Aga	p.G78R	IKBKE_ENST00000463979.1_3'UTR|IKBKE_ENST00000537984.1_5'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	78	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCCATAGGGCGGAAGCCGGCA	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16729	0.0		0.0	False		,,,				2504	0.0					uc001hdz.1		NA																	0				ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8						c.(232-234)GGA>AGA		IKK-related kinase epsilon							94.0	80.0	85.0					1																	206648211		2203	4300	6503	SO:0001583	missense	9641				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206648211G>A	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.232G>A	1.37:g.206648211G>A	ENSP00000356087:p.Gly78Arg					IKBKE_uc009xbu.1_Missense_Mutation_p.G78R|IKBKE_uc009xbv.1_Missense_Mutation_p.G78R|IKBKE_uc001hea.1_5'UTR	p.G78R	NM_014002	NP_054721	Q14164	IKKE_HUMAN			5	600	+	Breast(84;0.137)		78			Protein kinase.		D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	c.232G>A	CCDS30996.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	9.528	1.110165	0.20714	.	.	ENSG00000143466	ENST00000367120	T	0.45276	0.9	4.78	1.35	0.21983	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.664358	0.15653	N	0.251267	T	0.24084	0.0583	N	0.12569	0.235	0.80722	D	1	P	0.49253	0.921	P	0.49226	0.603	T	0.15206	-1.0445	10	0.16896	T	0.51	-1.0269	2.0871	0.03648	0.4364:0.0:0.3195:0.244	.	78	Q14164	IKKE_HUMAN	R	78	ENSP00000356087:G78R	ENSP00000356087:G78R	G	+	1	0	IKBKE	204714834	0.521000	0.26258	0.994000	0.49952	0.117000	0.20001	0.082000	0.14847	0.431000	0.26258	-0.310000	0.09108	GGA		0.617	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			7	50	0	0	0	0	7	50				
DYRK3	8444	broad.mit.edu	37	1	206821624	206821624	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:206821624T>G	ENST00000367109.2	+	3	1249	c.1081T>G	c.(1081-1083)Ttc>Gtc	p.F361V	DYRK3_ENST00000367106.1_Missense_Mutation_p.F341V|DYRK3_ENST00000367108.3_Missense_Mutation_p.F341V|DYRK3_ENST00000489878.1_Intron	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	361	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTCCAGCTGTTTCGAGTACCA	0.453																																					Melanoma(164;427 2622 26826 51707)	uc001hej.2		NA																	0				stomach(2)|central_nervous_system(1)	3						c.(1081-1083)TTC>GTC		dual-specificity tyrosine-(Y)-phosphorylation							89.0	97.0	94.0					1																	206821624		2203	4300	6503	SO:0001583	missense	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821624T>G	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1081T>G	1.37:g.206821624T>G	ENSP00000356076:p.Phe361Val					DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.F341V	p.F361V	NM_003582	NP_003573	O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		3	1249	+	Breast(84;0.183)		361			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	c.1081T>G	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	T	19.13	3.768462	0.69878	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.64085	-0.08;-0.08;-0.08	5.3	5.3	0.74995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	L	0.38733	1.17	0.80722	D	1	P;P	0.47604	0.898;0.57	P;B	0.56343	0.796;0.274	T	0.68330	-0.5437	10	0.52906	T	0.07	.	14.5705	0.68208	0.0:0.0:0.0:1.0	.	361;341	O43781;O43781-2	DYRK3_HUMAN;.	V	361;341;341	ENSP00000356076:F361V;ENSP00000356075:F341V;ENSP00000356073:F341V	ENSP00000356073:F341V	F	+	1	0	DYRK3	204888247	1.000000	0.71417	0.985000	0.45067	0.899000	0.52679	7.860000	0.86993	2.227000	0.72691	0.448000	0.29417	TTC		0.453	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		12	188	0	0	0	0	12	188				
FCAMR	83953	broad.mit.edu	37	1	207135666	207135666	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:207135666C>A	ENST00000324852.4	-	5	1018	c.544G>T	c.(544-546)Gtg>Ttg	p.V182L	FCAMR_ENST00000450945.2_Missense_Mutation_p.V182L|FCAMR_ENST00000400962.3_Missense_Mutation_p.V182L|FCAMR_ENST00000486178.1_5'Flank	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	137					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						AGCCTCACCACAAACAAGCCT	0.507																																					Ovarian(199;1883 2142 16966 44409 45154)	uc001hfa.3		NA																	0				ovary(1)	1						c.(544-546)GTG>TTG		Fc receptor, IgA, IgM, high affinity isoform 2							96.0	93.0	94.0					1																	207135666		1568	3582	5150	SO:0001583	missense	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207135666C>A	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.544G>T	1.37:g.207135666C>A	ENSP00000316491:p.Val182Leu					FCAMR_uc001hfb.2_Missense_Mutation_p.V182L|FCAMR_uc009xca.1_Missense_Mutation_p.V182L|FCAMR_uc001hfc.2_Missense_Mutation_p.V157L	p.V182L	NM_001122980	NP_001116452	Q8WWV6	FCAMR_HUMAN			5	1044	-			137			Extracellular (Potential).|Ig-like V-type.		Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	37	c.544G>T	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351581	0.41700	.	.	ENSG00000162897	ENST00000400962;ENST00000324852;ENST00000450945;ENST00000367087	T;T;T	0.64991	-0.13;-0.13;-0.13	5.6	3.69	0.42338	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.233855	0.29892	N	0.010932	T	0.57695	0.2071	L	0.31420	0.93	0.28006	N	0.935119	P;D;B;B	0.57899	0.952;0.981;0.198;0.091	P;P;B;B	0.54210	0.476;0.745;0.07;0.07	T	0.50659	-0.8802	10	0.35671	T	0.21	-10.8273	9.2799	0.37722	0.0:0.8271:0.0:0.1729	.	137;157;137;137	Q8WWV6-4;D2KTA8;Q8WWV6-2;Q8WWV6	.;.;.;FCAMR_HUMAN	L	182;182;182;158	ENSP00000383746:V182L;ENSP00000316491:V182L;ENSP00000392707:V182L	ENSP00000316491:V182L	V	-	1	0	FCAMR	205202289	0.377000	0.25106	0.999000	0.59377	0.492000	0.33523	0.080000	0.14802	1.334000	0.45468	0.655000	0.94253	GTG		0.507	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		3	50	1	0	2.32e-09	2.74e-09	3	50				
INTS7	25896	broad.mit.edu	37	1	212118271	212118271	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:212118271A>G	ENST00000366994.3	-	19	2560	c.2456T>C	c.(2455-2457)aTt>aCt	p.I819T	INTS7_ENST00000366992.3_Missense_Mutation_p.I799T|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.I770T|INTS7_ENST00000366993.3_Missense_Mutation_p.I805T	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	819					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CTGGACAGCAATGGGCTCTGC	0.512																																						uc001hiw.1		NA																	0					0						c.(2455-2457)ATT>ACT		integrator complex subunit 7							87.0	81.0	83.0					1																	212118271		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212118271A>G	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2456T>C	1.37:g.212118271A>G	ENSP00000355961:p.Ile819Thr					INTS7_uc009xdb.1_Missense_Mutation_p.I799T|INTS7_uc001hix.1_Missense_Mutation_p.I695T|INTS7_uc001hiy.1_Missense_Mutation_p.I805T|INTS7_uc010pta.1_Missense_Mutation_p.I770T	p.I819T	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	19	2561	-			819					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.2456T>C	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552608	0.86127	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.56275	0.49;0.47;0.51;0.5	5.49	5.49	0.81192	.	0.046134	0.85682	D	0.000000	T	0.68256	0.2981	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.61080	0.989;0.989;0.989;0.989	D;D;D;D	0.75020	0.978;0.978;0.978;0.985	T	0.71391	-0.4607	10	0.87932	D	0	-20.4816	15.5835	0.76465	1.0:0.0:0.0:0.0	.	770;799;805;819	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	T	819;805;799;770	ENSP00000355961:I819T;ENSP00000355960:I805T;ENSP00000355959:I799T;ENSP00000388908:I770T	ENSP00000355959:I799T	I	-	2	0	INTS7	210184894	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.696000	0.91302	2.090000	0.63153	0.533000	0.62120	ATT		0.512	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		23	72	0	0	0	0	23	72				
USH2A	7399	broad.mit.edu	37	1	216074210	216074210	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:216074210G>A	ENST00000307340.3	-	39	7724	c.7338C>T	c.(7336-7338)gcC>gcT	p.A2446A	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000366943.2_Silent_p.A2446A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2446	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGTTGGAGTGGCAGATGAAA	0.517										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(7336-7338)GCC>GCT		usherin isoform B							104.0	103.0	103.0					1																	216074210		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216074210G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7338C>T	1.37:g.216074210G>A		HNSCC(13;0.011)					p.A2446A	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	39	7725	-			2446			Extracellular (Potential).|Fibronectin type-III 11.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.7338C>T	CCDS31025.1																																																																																				0.517	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		26	91	0	0	0	0	26	91				
MAP10	54627	broad.mit.edu	37	1	232941433	232941433	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:232941433G>C	ENST00000418460.1	+	1	791	c.664G>C	c.(664-666)Gcc>Ccc	p.A222P		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	80					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										CGCTCCCGCCGCCGAACCGTG	0.731																																						uc001hvh.2		NA																	0				ovary(1)	1						c.(664-666)GCC>CCC		hypothetical protein LOC54627							7.0	9.0	8.0					1																	232941433		1903	4037	5940	SO:0001583	missense	54627							g.chr1:232941433G>C	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.664G>C	1.37:g.232941433G>C	ENSP00000403208:p.Ala222Pro						p.A222P	NM_019090	NP_061963	Q9P2G4	K1383_HUMAN			1	796	+		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)	80					A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.664G>C	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	0.292	-0.979196	0.02197	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.12	4.21	0.49690	.	0.537281	0.15710	N	0.248452	T	0.06645	0.0170	N	0.00128	-2.045	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26326	-1.0106	9	0.13108	T	0.6	-3.7222	10.1927	0.43037	0.1532:0.6983:0.1485:0.0	.	80	Q9P2G4	K1383_HUMAN	P	222	.	ENSP00000403208:A222P	A	+	1	0	KIAA1383	231008056	0.000000	0.05858	0.025000	0.17156	0.005000	0.04900	0.312000	0.19397	1.288000	0.44600	-0.387000	0.06579	GCC		0.731	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		4	20	0	0	0	0	4	20				
RYR2	6262	broad.mit.edu	37	1	237666648	237666648	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:237666648A>G	ENST00000366574.2	+	22	2773	c.2456A>G	c.(2455-2457)tAt>tGt	p.Y819C	RYR2_ENST00000542537.1_Missense_Mutation_p.Y803C|RYR2_ENST00000360064.6_Missense_Mutation_p.Y817C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	819					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCACCTGGGTATGCTCCTTGT	0.458																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(2455-2457)TAT>TGT		cardiac muscle ryanodine receptor							82.0	81.0	81.0					1																	237666648		1922	4130	6052	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237666648A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2456A>G	1.37:g.237666648A>G	ENSP00000355533:p.Tyr819Cys						p.Y819C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		22	2576	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	819			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2456A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.986376	0.53934	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.61158	0.13;0.13;0.13	5.72	5.72	0.89469	.	0.000000	0.56097	D	0.000022	T	0.76891	0.4051	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.80018	-0.1558	10	0.87932	D	0	.	16.2962	0.82776	1.0:0.0:0.0:0.0	.	819	Q92736	RYR2_HUMAN	C	819;817;803	ENSP00000355533:Y819C;ENSP00000353174:Y817C;ENSP00000443798:Y803C	ENSP00000353174:Y817C	Y	+	2	0	RYR2	235733271	1.000000	0.71417	0.593000	0.28771	0.406000	0.30931	7.326000	0.79133	2.304000	0.77564	0.528000	0.53228	TAT		0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	34	0	0	0	0	8	34				
RYR2	6262	broad.mit.edu	37	1	237935319	237935319	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:237935319G>A	ENST00000366574.2	+	86	11882	c.11565G>A	c.(11563-11565)caG>caA	p.Q3855Q	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.Q3839Q|RYR2_ENST00000360064.6_Silent_p.Q3861Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3855					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAGATTTTCAGAATTATCTGA	0.343																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(11563-11565)CAG>CAA		cardiac muscle ryanodine receptor							52.0	48.0	49.0					1																	237935319		1806	4062	5868	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237935319G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11565G>A	1.37:g.237935319G>A						RYR2_uc010pya.1_Silent_p.Q270Q	p.Q3855Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		86	11685	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3855					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.11565G>A	CCDS55691.1																																																																																				0.343	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	7	0	0	0	0	5	7				
ECHDC3	79746	broad.mit.edu	37	10	11805415	11805415	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:11805415G>A	ENST00000379215.4	+	5	995	c.784G>A	c.(784-786)Gac>Aac	p.D262N	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	262						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						GCTGCCCCAGGACCTGGGGAC	0.637																																						uc001ikw.3		NA																	0					0						c.(784-786)GAC>AAC		enoyl Coenzyme A hydratase domain containing 3							51.0	43.0	46.0					10																	11805415		2203	4300	6503	SO:0001583	missense	79746					mitochondrion	catalytic activity	g.chr10:11805415G>A	AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 3"""			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.784G>A	10.37:g.11805415G>A	ENSP00000368517:p.Asp262Asn					ECHDC3_uc009xix.2_Missense_Mutation_p.D131N	p.D262N	NM_024693	NP_078969	Q96DC8	ECHD3_HUMAN			5	1004	+			262					Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Missense_Mutation	SNP	ENST00000379215.4	37	c.784G>A	CCDS7084.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734042	0.48939	.	.	ENSG00000134463	ENST00000379215	T	0.22945	1.93	5.73	5.73	0.89815	.	0.098768	0.64402	D	0.000001	T	0.24547	0.0595	L	0.60957	1.885	0.41178	D	0.986217	B	0.19817	0.039	B	0.22880	0.042	T	0.05937	-1.0855	10	0.10377	T	0.69	.	12.2329	0.54499	0.0776:0.0:0.9224:0.0	.	262	Q96DC8	ECHD3_HUMAN	N	262	ENSP00000368517:D262N	ENSP00000368517:D262N	D	+	1	0	ECHDC3	11845421	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.205000	0.72148	2.706000	0.92434	0.561000	0.74099	GAC		0.637	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1	NM_024693		25	55	0	0	0	0	25	55				
SEPHS1	22929	broad.mit.edu	37	10	13361236	13361236	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:13361236C>T	ENST00000327347.5	-	9	1460	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	SEPHS1_ENST00000545675.1_3'UTR|SEPHS1_ENST00000378614.4_Missense_Mutation_p.R291H|SEPHS1_ENST00000537130.1_Missense_Mutation_p.R295H	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	362					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)	p.R362H(2)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						TCTGGCTGTGCGGTTGCCCTT	0.522																																						uc001imk.2		NA																	2	Substitution - Missense(2)		endometrium(2)	skin(1)	1						c.(1084-1086)CGC>CAC		selenophosphate synthetase 1							281.0	280.0	280.0					10																	13361236		2203	4300	6503	SO:0001583	missense	22929				protein modification process		ATP binding|GTP binding|selenide, water dikinase activity	g.chr10:13361236C>T	BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.1085G>A	10.37:g.13361236C>T	ENSP00000367893:p.Arg362His					SEPHS1_uc001imh.2_Missense_Mutation_p.R286H|SEPHS1_uc010qbs.1_Missense_Mutation_p.R314H|SEPHS1_uc001imi.2_Missense_Mutation_p.R360H|SEPHS1_uc001imj.2_3'UTR|SEPHS1_uc010qbt.1_Missense_Mutation_p.R295H	p.R362H	NM_012247	NP_036379	P49903	SPS1_HUMAN			9	1444	-			362					B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Missense_Mutation	SNP	ENST00000327347.5	37	c.1085G>A	CCDS7098.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502011	0.44455	.	.	ENSG00000086475	ENST00000327347;ENST00000319684;ENST00000378614;ENST00000537130	T;T;T	0.43688	0.94;0.94;0.94	5.23	5.23	0.72850	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	L	0.43646	1.37	0.80722	D	1	B;P;P;B	0.38148	0.421;0.62;0.62;0.281	B;B;B;B	0.32928	0.067;0.155;0.155;0.045	T	0.27088	-1.0084	10	0.45353	T	0.12	-18.7683	19.197	0.93693	0.0:1.0:0.0:0.0	.	314;362;362;295	B4DLS1;P49903;D3DRS9;B4DWK0	.;SPS1_HUMAN;.;.	H	362;291;291;295	ENSP00000367893:R362H;ENSP00000367877:R291H;ENSP00000442768:R295H	ENSP00000367887:R291H	R	-	2	0	SEPHS1	13401242	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	7.776000	0.85560	2.605000	0.88082	0.655000	0.94253	CGC		0.522	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1	NM_012247		12	735	0	0	0	0	12	735				
CUBN	8029	broad.mit.edu	37	10	16873368	16873368	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:16873368C>T	ENST00000377833.4	-	65	10476	c.10411G>A	c.(10411-10413)Gga>Aga	p.G3471R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3471	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCAGAGTTCCACAGTACTTG	0.373																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(10411-10413)GGA>AGA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						136.0	125.0	129.0					10																	16873368		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16873368C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10411G>A	10.37:g.16873368C>T	ENSP00000367064:p.Gly3471Arg						p.G3471R	NM_001081	NP_001072	O60494	CUBN_HUMAN			65	10463	-			3471			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10411G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169586	0.78452	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.65178	-0.14	4.6	3.69	0.42338	CUB (5);	0.394368	0.18640	N	0.135309	D	0.83547	0.5278	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86787	0.1983	10	0.87932	D	0	.	12.3998	0.55405	0.0:0.9184:0.0:0.0816	.	3471	O60494	CUBN_HUMAN	R	3471;312	ENSP00000367064:G3471R	ENSP00000367064:G3471R	G	-	1	0	CUBN	16913374	1.000000	0.71417	0.943000	0.38184	0.958000	0.62258	5.330000	0.65899	1.147000	0.42369	0.561000	0.74099	GGA		0.373	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		48	202	0	0	0	0	48	202				
NEBL	10529	broad.mit.edu	37	10	21139422	21139422	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:21139422T>C	ENST00000377122.4	-	11	1414	c.1018A>G	c.(1018-1020)Aaa>Gaa	p.K340E	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	340					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TATTCTTCTTTATATTTCACC	0.318																																						uc001iqi.2		NA																	0				ovary(2)	2						c.(1018-1020)AAA>GAA		nebulette sarcomeric isoform							109.0	106.0	107.0					10																	21139422		2203	4299	6502	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21139422T>C	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1018A>G	10.37:g.21139422T>C	ENSP00000366326:p.Lys340Glu					NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	p.K340E	NM_006393	NP_006384	O76041	NEBL_HUMAN			11	1415	-			340			Nebulin 9.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.1018A>G	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.573559	0.86542	.	.	ENSG00000078114	ENST00000377122	T	0.69040	-0.37	5.63	5.63	0.86233	.	0.224693	0.45126	D	0.000399	T	0.75027	0.3794	M	0.83774	2.66	0.80722	D	1	B	0.30211	0.273	B	0.39339	0.297	T	0.76713	-0.2858	10	0.62326	D	0.03	.	15.1294	0.72511	0.0:0.0:0.0:1.0	.	340	O76041	NEBL_HUMAN	E	340	ENSP00000366326:K340E	ENSP00000366326:K340E	K	-	1	0	NEBL	21179428	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.350000	0.73017	2.281000	0.76405	0.533000	0.62120	AAA		0.318	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		45	132	0	0	0	0	45	132				
ZEB1	6935	broad.mit.edu	37	10	31810534	31810534	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:31810534G>C	ENST00000320985.10	+	7	2381	c.2271G>C	c.(2269-2271)caG>caC	p.Q757H	ZEB1_ENST00000542815.3_Missense_Mutation_p.Q690H|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Missense_Mutation_p.Q741H|ZEB1_ENST00000361642.5_Missense_Mutation_p.Q758H|ZEB1_ENST00000560721.2_Missense_Mutation_p.Q737H			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	757					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GTGTTTACCAGAACAGTGTTT	0.418																																					Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3		NA																	0				ovary(3)|central_nervous_system(2)	5						c.(2269-2271)CAG>CAC		zinc finger E-box binding homeobox 1 isoform b							98.0	94.0	95.0					10																	31810534		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810534G>C	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2271G>C	10.37:g.31810534G>C	ENSP00000319248:p.Gln757His					ZEB1_uc001ivr.3_Missense_Mutation_p.Q539H|ZEB1_uc010qee.1_Missense_Mutation_p.Q539H|ZEB1_uc010qef.1_Missense_Mutation_p.Q539H|ZEB1_uc009xlj.1_Missense_Mutation_p.Q683H|ZEB1_uc010qeg.1_Missense_Mutation_p.Q616H|ZEB1_uc009xlk.1_Missense_Mutation_p.Q539H|ZEB1_uc001ivt.3_Missense_Mutation_p.Q539H|ZEB1_uc001ivu.3_Missense_Mutation_p.Q758H|ZEB1_uc001ivv.3_Missense_Mutation_p.Q737H|ZEB1_uc010qeh.1_Missense_Mutation_p.Q690H|ZEB1_uc009xlo.1_Missense_Mutation_p.Q740H|ZEB1_uc009xlp.2_Missense_Mutation_p.Q741H	p.Q757H	NM_030751	NP_110378	P37275	ZEB1_HUMAN			7	2334	+		Prostate(175;0.0156)	757					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2271G>C	CCDS7169.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.969|8.969	0.972369|0.972369	0.18736|0.18736	.|.	.|.	ENSG00000148516|ENSG00000148516	ENST00000546250|ENST00000542879;ENST00000537225;ENST00000361642;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	.|T;T;T;T;T	.|0.10573	.|3.16;2.87;2.9;2.86;2.91	5.21|5.21	4.3|4.3	0.51218|0.51218	.|.	.|.	.|.	.|.	.|.	T|T	0.14056|0.14056	0.0340|0.0340	M|M	0.65975|0.65975	2.015|2.015	0.45427|0.45427	D|D	0.998402|0.998402	.|B;B;B;B;B;B;B;B	.|0.09022	.|0.001;0.001;0.002;0.002;0.002;0.001;0.002;0.002	.|B;B;B;B;B;B;B;B	.|0.10450	.|0.005;0.003;0.003;0.002;0.002;0.002;0.003;0.002	T|T	0.03684|0.03684	-1.1013|-1.1013	6|9	0.33141|0.23302	T|T	0.24|0.38	-11.2956|-11.2956	13.9067|13.9067	0.63841|0.63841	0.0737:0.0:0.9263:0.0|0.0737:0.0:0.9263:0.0	.|.	.|690;757;741;757;757;737;758;757	.|F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.|.;.;.;.;.;.;.;ZEB1_HUMAN	Q|H	754|539;757;758;690;757;737;648;741	.|ENSP00000444282:Q539H;ENSP00000354487:Q758H;ENSP00000444891:Q690H;ENSP00000319248:Q757H;ENSP00000391612:Q741H	ENSP00000445457:E754Q|ENSP00000319248:Q757H	E|Q	+|+	1|3	0|2	ZEB1|ZEB1	31850540|31850540	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.361000|4.361000	0.59461|0.59461	1.324000|1.324000	0.45282|0.45282	0.585000|0.585000	0.79938|0.79938	GAA|CAG		0.418	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		58	92	0	0	0	0	58	92				
ARHGAP12	94134	broad.mit.edu	37	10	32128565	32128565	+	Splice_Site	SNP	T	T	C	rs552390287		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:32128565T>C	ENST00000344936.2	-	8	1605	c.1371A>G	c.(1369-1371)acA>acG	p.T457T	ARHGAP12_ENST00000375245.4_Splice_Site_p.T410T|ARHGAP12_ENST00000311380.4_Splice_Site_p.T410T|ARHGAP12_ENST00000396144.4_Splice_Site_p.T457T|ARHGAP12_ENST00000375250.5_Intron	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	457					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.T457T(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TCATACTAACTGTATCTTGGT	0.328													T|||	1	0.000199681	0.0	0.0	5008	,	,		14143	0.001		0.0	False		,,,				2504	0.0					uc001ivz.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1369-1371)ACA>ACG		Rho GTPase activating protein 12							100.0	102.0	102.0					10																	32128565		2203	4300	6503	SO:0001630	splice_region_variant	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32128565T>C	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1371+1A>G	10.37:g.32128565T>C						ARHGAP12_uc001ivy.1_Silent_p.T408T|ARHGAP12_uc009xls.2_Silent_p.T408T|ARHGAP12_uc001iwb.1_Silent_p.T455T|ARHGAP12_uc001iwc.1_Intron|ARHGAP12_uc009xlq.1_Intron|ARHGAP12_uc001iwd.1_Intron|ARHGAP12_uc009xlr.1_Silent_p.T455T	p.T457T	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN			8	1641	-		Prostate(175;0.0199)	457					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Silent	SNP	ENST00000344936.2	37	c.1371A>G	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.655456	0.47467	.	.	ENSG00000165322	ENST00000454919	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	T	0.72003	0.3407	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71258	-0.4646	4	.	.	.	.	15.9211	0.79575	0.0:0.0:0.0:1.0	.	.	.	.	G	133	.	.	R	-	1	2	ARHGAP12	32168571	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.440000	0.44855	2.210000	0.71456	0.533000	0.62120	AGA		0.328	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1		Silent	32	73	0	0	0	0	32	73				
ANKRD30A	91074	broad.mit.edu	37	10	37505229	37505229	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:37505229G>A	ENST00000602533.1	+	32	2921	c.2822G>A	c.(2821-2823)tGt>tAt	p.C941Y	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.C941Y|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.C1060Y			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	997					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGAAGTTTTGTGTACTGAAA	0.353																																						uc001iza.1		NA																	0				ovary(7)|breast(1)|skin(1)	9						c.(2821-2823)TGT>TAT		ankyrin repeat domain 30A							80.0	77.0	78.0					10																	37505229		1817	4076	5893	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37505229G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2822G>A	10.37:g.37505229G>A	ENSP00000473551:p.Cys941Tyr						p.C941Y	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			32	2921	+			997					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2822G>A		.	.	.	.	.	.	.	.	.	.	g	0.023	-1.403305	0.01165	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.16743	2.32;2.32	2.63	-2.85	0.05734	.	.	.	.	.	T	0.11495	0.0280	L	0.50333	1.59	0.09310	N	1	P	0.36712	0.566	B	0.31191	0.125	T	0.16837	-1.0389	9	0.45353	T	0.12	.	4.6441	0.12563	0.535:0.1929:0.2721:0.0	.	997	Q9BXX3	AN30A_HUMAN	Y	941;1060	ENSP00000354432:C941Y;ENSP00000363792:C1060Y	ENSP00000354432:C941Y	C	+	2	0	ANKRD30A	37545235	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.051000	0.14141	-0.440000	0.07211	-0.671000	0.03813	TGT		0.353	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		25	103	0	0	0	0	25	103				
A1CF	29974	broad.mit.edu	37	10	52570857	52570857	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:52570857C>G	ENST00000373993.1	-	9	1471	c.1427G>C	c.(1426-1428)aGa>aCa	p.R476T	A1CF_ENST00000373997.3_Missense_Mutation_p.R468T|A1CF_ENST00000395495.1_Missense_Mutation_p.R421T|A1CF_ENST00000374001.2_Missense_Mutation_p.R468T|A1CF_ENST00000373995.3_Missense_Mutation_p.R476T|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395489.2_Missense_Mutation_p.R469T|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Missense_Mutation_p.R476T			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	476					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GAATAGCTGTCTTTGGTCTTG	0.388																																						uc001jjj.2		NA																	0				central_nervous_system(1)	1						c.(1426-1428)AGA>ACA		apobec-1 complementation factor isoform 2							115.0	104.0	108.0					10																	52570857		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52570857C>G	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1427G>C	10.37:g.52570857C>G	ENSP00000363105:p.Arg476Thr					A1CF_uc010qhn.1_Missense_Mutation_p.R476T|A1CF_uc001jji.2_Missense_Mutation_p.R468T|A1CF_uc001jjh.2_Missense_Mutation_p.R476T|A1CF_uc010qho.1_Missense_Mutation_p.R484T|A1CF_uc009xov.2_Missense_Mutation_p.R468T	p.R476T	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			11	1615	-			476					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.1427G>C	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944014	0.92593	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.13901	2.72;2.75;2.72;2.73;2.75;2.55;2.75	6.05	6.05	0.98169	Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	L	0.49350	1.555	0.58432	D	0.999999	D;D;D;P	0.89917	1.0;0.999;0.998;0.824	D;D;D;B	0.74023	0.982;0.915;0.943;0.284	T	0.00087	-1.2092	10	0.35671	T	0.21	-14.4115	18.0951	0.89487	0.0:1.0:0.0:0.0	.	469;476;468;476	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	T	468;476;468;476;476;421;451;469	ENSP00000363113:R468T;ENSP00000363105:R476T;ENSP00000363109:R468T;ENSP00000363107:R476T;ENSP00000282641:R476T;ENSP00000378873:R421T;ENSP00000378868:R469T	ENSP00000282641:R476T	R	-	2	0	A1CF	52240863	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.473000	0.81007	2.878000	0.98634	0.650000	0.86243	AGA		0.388	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		15	67	0	0	0	0	15	67				
PCDH15	65217	broad.mit.edu	37	10	56106239	56106239	+	Silent	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:56106239A>T	ENST00000320301.6	-	6	874	c.480T>A	c.(478-480)acT>acA	p.T160T	PCDH15_ENST00000361849.3_Silent_p.T160T|PCDH15_ENST00000437009.1_Silent_p.T160T|PCDH15_ENST00000373957.3_Silent_p.T138T|PCDH15_ENST00000395445.1_Silent_p.T160T|PCDH15_ENST00000395433.1_Silent_p.T138T|PCDH15_ENST00000395442.1_Silent_p.T160T|PCDH15_ENST00000373965.2_Silent_p.T160T|PCDH15_ENST00000395438.1_Silent_p.T160T|PCDH15_ENST00000395446.1_Silent_p.T160T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Silent_p.T160T|PCDH15_ENST00000414778.1_Silent_p.T165T|PCDH15_ENST00000373955.1_Silent_p.T160T|PCDH15_ENST00000395440.1_Silent_p.T160T|AC013737.1_ENST00000583830.1_RNA|PCDH15_ENST00000395432.2_Silent_p.T160T	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	160	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TACCAACTGGAGTGAGCTGAA	0.333										HNSCC(58;0.16)																												uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(478-480)ACT>ACA		protocadherin 15 isoform CD1-4 precursor							140.0	144.0	143.0					10																	56106239		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56106239A>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.480T>A	10.37:g.56106239A>T		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Silent_p.T165T|PCDH15_uc010qhr.1_Silent_p.T160T|PCDH15_uc010qhs.1_Silent_p.T165T|PCDH15_uc010qht.1_Silent_p.T160T|PCDH15_uc010qhu.1_Silent_p.T160T|PCDH15_uc001jjv.1_Silent_p.T138T|PCDH15_uc010qhv.1_Silent_p.T160T|PCDH15_uc010qhw.1_Silent_p.T160T|PCDH15_uc010qhx.1_Silent_p.T160T|PCDH15_uc010qhy.1_Silent_p.T165T|PCDH15_uc010qhz.1_Silent_p.T160T|PCDH15_uc010qia.1_Silent_p.T138T|PCDH15_uc010qib.1_Silent_p.T138T|PCDH15_uc001jjw.2_Silent_p.T160T	p.T160T	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			6	875	-		Melanoma(3;0.117)|Lung SC(717;0.238)	160			Extracellular (Potential).|Cadherin 2.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.480T>A	CCDS7248.1																																																																																				0.333	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		34	185	0	0	0	0	34	185				
PCDH15	65217	broad.mit.edu	37	10	56138617	56138617	+	Silent	SNP	C	C	A	rs151119732	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:56138617C>A	ENST00000320301.6	-	4	637	c.243G>T	c.(241-243)gtG>gtT	p.V81V	PCDH15_ENST00000361849.3_Silent_p.V81V|PCDH15_ENST00000437009.1_Silent_p.V81V|PCDH15_ENST00000373957.3_Silent_p.V59V|PCDH15_ENST00000395445.1_Silent_p.V81V|PCDH15_ENST00000395433.1_Silent_p.V59V|PCDH15_ENST00000395442.1_Silent_p.V81V|PCDH15_ENST00000373965.2_Silent_p.V81V|PCDH15_ENST00000395438.1_Silent_p.V81V|PCDH15_ENST00000395446.1_Silent_p.V81V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Silent_p.V81V|PCDH15_ENST00000414778.1_Silent_p.V86V|PCDH15_ENST00000373955.1_Silent_p.V81V|PCDH15_ENST00000395440.1_Silent_p.V81V|PCDH15_ENST00000395432.2_Silent_p.V81V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	81	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCCAGTAATCCACATTATCCT	0.433										HNSCC(58;0.16)																												uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(241-243)GTG>GTT		protocadherin 15 isoform CD1-4 precursor							152.0	160.0	157.0					10																	56138617		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56138617C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.243G>T	10.37:g.56138617C>A		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Silent_p.V86V|PCDH15_uc010qhr.1_Silent_p.V81V|PCDH15_uc010qhs.1_Silent_p.V86V|PCDH15_uc010qht.1_Silent_p.V81V|PCDH15_uc010qhu.1_Silent_p.V81V|PCDH15_uc001jjv.1_Silent_p.V59V|PCDH15_uc010qhv.1_Silent_p.V81V|PCDH15_uc010qhw.1_Silent_p.V81V|PCDH15_uc010qhx.1_Silent_p.V81V|PCDH15_uc010qhy.1_Silent_p.V86V|PCDH15_uc010qhz.1_Silent_p.V81V|PCDH15_uc010qia.1_Silent_p.V59V|PCDH15_uc010qib.1_Silent_p.V59V|PCDH15_uc001jjw.2_Silent_p.V81V	p.V81V	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			4	638	-		Melanoma(3;0.117)|Lung SC(717;0.238)	81			Cadherin 1.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.243G>T	CCDS7248.1																																																																																				0.433	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		80	221	1	0	4.04e-35	5.37e-35	80	221				
FAM213A	84293	broad.mit.edu	37	10	82187166	82187166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:82187166C>T	ENST00000372181.1	+	4	960	c.490C>T	c.(490-492)Cga>Tga	p.R164*	FAM213A_ENST00000372187.5_Nonsense_Mutation_p.R164*|FAM213A_ENST00000372185.1_Nonsense_Mutation_p.R153*|FAM213A_ENST00000372188.1_Nonsense_Mutation_p.R164*	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	164					oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)										CAACTTCTTCCGAGCCTGGAA	0.488																																						uc001kcc.3		NA																	0					0						c.(490-492)CGA>TGA		hypothetical protein LOC84293 precursor							136.0	123.0	127.0					10																	82187166		2203	4300	6503	SO:0001587	stop_gained	84293					extracellular region		g.chr10:82187166C>T	AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"""peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"""		"""chromosome 10 open reading frame 58"""	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.490C>T	10.37:g.82187166C>T	ENSP00000361254:p.Arg164*					C10orf58_uc001kcd.3_Nonsense_Mutation_p.R153*|C10orf58_uc001kce.3_Nonsense_Mutation_p.R164*|C10orf58_uc001kcf.3_Nonsense_Mutation_p.R164*	p.R164*	NM_032333	NP_115709	Q9BRX8	CJ058_HUMAN	Colorectal(32;0.229)		5	650	+			164					B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Nonsense_Mutation	SNP	ENST00000372181.1	37	c.490C>T	CCDS7368.1	.	.	.	.	.	.	.	.	.	.	C	41	9.054361	0.99050	.	.	ENSG00000122378	ENST00000372188;ENST00000372187;ENST00000372185;ENST00000372181	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5267	17.9177	0.88957	0.0:1.0:0.0:0.0	.	.	.	.	X	164;164;153;164	.	ENSP00000361254:R164X	R	+	1	2	C10orf58	82177146	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	2.140000	0.42159	2.828000	0.97474	0.655000	0.94253	CGA		0.488	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2			22	167	0	0	0	0	22	167				
SORCS3	22986	broad.mit.edu	37	10	107022247	107022247	+	Missense_Mutation	SNP	T	T	C	rs199505192		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:107022247T>C	ENST00000369701.3	+	26	3829	c.3602T>C	c.(3601-3603)aTa>aCa	p.I1201T		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1201					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACGCGGGTCATAGGTACATGC	0.542																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(3601-3603)ATA>ACA		VPS10 domain receptor protein SORCS 3 precursor							57.0	45.0	49.0					10																	107022247		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107022247T>C	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3602T>C	10.37:g.107022247T>C	ENSP00000358715:p.Ile1201Thr						p.I1201T	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	26	3829	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1201			Cytoplasmic (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.3602T>C	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.858345	0.51376	.	.	ENSG00000156395	ENST00000369701	T	0.16196	2.36	5.84	5.84	0.93424	.	0.331703	0.35525	N	0.003155	T	0.11495	0.0280	N	0.14661	0.345	0.32974	D	0.522792	B	0.18310	0.027	B	0.14023	0.01	T	0.13361	-1.0512	9	.	.	.	.	16.2322	0.82352	0.0:0.0:0.0:1.0	.	1201	Q9UPU3	SORC3_HUMAN	T	1201	ENSP00000358715:I1201T	.	I	+	2	0	SORCS3	107012237	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.948000	0.56660	2.233000	0.73108	0.454000	0.30748	ATA		0.542	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		25	63	0	0	0	0	25	63				
ZDHHC6	64429	broad.mit.edu	37	10	114205170	114205170	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:114205170T>C	ENST00000369405.3	-	2	448	c.25A>G	c.(25-27)Aag>Gag	p.K9E	VTI1A_ENST00000393077.2_5'Flank|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.K9E|VTI1A_ENST00000432306.1_5'Flank	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	9					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		TTTTCAAACTTGATAACCGAA	0.398																																						uc001kzv.2		NA																	0					0						c.(25-27)AAG>GAG		zinc finger, DHHC-type containing 6							77.0	76.0	76.0					10																	114205170		2203	4300	6503	SO:0001583	missense	64429					integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:114205170T>C	AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"""Zinc fingers, DHHC-type"""	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.25A>G	10.37:g.114205170T>C	ENSP00000358413:p.Lys9Glu					VTI1A_uc001kzy.2_5'Flank|VTI1A_uc001kzz.2_5'Flank|ZDHHC6_uc001kzw.2_Missense_Mutation_p.K9E|ZDHHC6_uc009xya.1_Missense_Mutation_p.K9E|VTI1A_uc001kzx.2_5'Flank	p.K9E	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN		Epithelial(162;0.0291)|all cancers(201;0.117)	2	449	-		Colorectal(252;0.198)	9					D3DRB6|Q53G45|Q96IV7|Q9H605	Missense_Mutation	SNP	ENST00000369405.3	37	c.25A>G	CCDS7574.1	.	.	.	.	.	.	.	.	.	.	T	9.115	1.007487	0.19199	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.65178	0.58;-0.14	5.93	5.93	0.95920	.	0.386292	0.27951	N	0.017200	T	0.43897	0.1268	N	0.08118	0	0.25769	N	0.984852	B;B	0.18741	0.03;0.008	B;B	0.21917	0.037;0.011	T	0.37267	-0.9713	10	0.37606	T	0.19	-3.8484	13.8886	0.63724	0.0:0.0:0.0:1.0	.	9;9	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	E	9	ENSP00000358413:K9E;ENSP00000358412:K9E	ENSP00000358412:K9E	K	-	1	0	ZDHHC6	114195160	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	2.971000	0.49248	2.270000	0.75569	0.533000	0.62120	AAG		0.398	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1	NM_022494		3	88	0	0	0	0	3	88				
GFRA1	2674	broad.mit.edu	37	10	117884808	117884808	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:117884808C>G	ENST00000355422.6	-	6	1244	c.694G>C	c.(694-696)Gtg>Ctg	p.V232L	GFRA1_ENST00000544592.1_Missense_Mutation_p.V111L|GFRA1_ENST00000439649.3_Missense_Mutation_p.V227L|GFRA1_ENST00000369236.1_Missense_Mutation_p.V227L	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	232					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TAGGAGCACACAGGCACGATG	0.562																																					Ovarian(128;329 1725 45498 46808 50759)	uc001lcj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(694-696)GTG>CTG		GDNF family receptor alpha 1 isoform a							76.0	65.0	69.0					10																	117884808		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117884808C>G	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.694G>C	10.37:g.117884808C>G	ENSP00000347591:p.Val232Leu					GFRA1_uc001lci.2_Missense_Mutation_p.V227L|GFRA1_uc009xyr.2_Missense_Mutation_p.V227L	p.V232L	NM_005264	NP_005255	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	6	1392	-		Lung NSC(174;0.21)	232			2		A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.694G>C	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921865	0.33908	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.62364	0.03;0.03	5.75	4.8	0.61643	GDNF/GAS1 (2);	0.354456	0.28482	N	0.015190	T	0.43255	0.1239	N	0.08118	0	0.42964	D	0.994411	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.28004	-1.0057	10	0.26408	T	0.33	-11.4516	17.1602	0.86802	0.0:0.7802:0.2198:0.0	.	232;227	P56159;P56159-2	GFRA1_HUMAN;.	L	232;227;227;111;227	ENSP00000358239:V227L;ENSP00000442179:V111L	ENSP00000347591:V227L	V	-	1	0	GFRA1	117874798	0.995000	0.38212	0.986000	0.45419	0.990000	0.78478	3.259000	0.51515	2.725000	0.93324	0.655000	0.94253	GTG		0.562	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		32	73	0	0	0	0	32	73				
TH	7054	broad.mit.edu	37	11	2189385	2189385	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:2189385G>T	ENST00000381178.1	-	5	623	c.605C>A	c.(604-606)tCa>tAa	p.S202*	TH_ENST00000352909.3_Nonsense_Mutation_p.S171*|TH_ENST00000333684.5_Nonsense_Mutation_p.S175*|TH_ENST00000381175.1_Nonsense_Mutation_p.S198*	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	202					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GTCCAGCTCTGACACTTTTCT	0.597																																						uc001lvq.2		NA																	0					0						c.(604-606)TCA>TAA		tyrosine hydroxylase isoform a	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						132.0	120.0	124.0					11																	2189385		2202	4299	6501	SO:0001587	stop_gained	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2189385G>T	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.605C>A	11.37:g.2189385G>T	ENSP00000370571:p.Ser202*					TH_uc001lvp.2_Nonsense_Mutation_p.S198*|TH_uc001lvr.2_Nonsense_Mutation_p.S171*|TH_uc010qxj.1_Nonsense_Mutation_p.S175*|TH_uc001lvs.2_Nonsense_Mutation_p.S171*|TH_uc001lvt.2_Nonsense_Mutation_p.S175*|TH_uc009ydh.1_RNA	p.S202*	NM_199292	NP_954986	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	5	624	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	202					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Nonsense_Mutation	SNP	ENST00000381178.1	37	c.605C>A	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	G	33	5.237957	0.95240	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	.	.	.	2.91	2.91	0.33838	.	0.531898	0.17935	U	0.157034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-11.208	10.3189	0.43753	0.0:0.2224:0.7776:0.0	.	.	.	.	X	202;198;171;175	.	ENSP00000328814:S175X	S	-	2	0	TH	2145961	0.992000	0.36948	0.353000	0.25747	0.589000	0.36550	4.663000	0.61532	1.633000	0.50488	0.205000	0.17691	TCA		0.597	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		25	57	1	0	2.8e-10	3.33e-10	25	57				
OR52I2	143502	broad.mit.edu	37	11	4608360	4608360	+	Silent	SNP	G	G	C	rs149411057	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:4608360G>C	ENST00000312614.4	+	1	340	c.318G>C	c.(316-318)tcG>tcC	p.S106S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCCTCCTCGGTGGTACCCA	0.493													G|||	5	0.000998403	0.0015	0.0014	5008	,	,		25374	0.001		0.0	False		,,,				2504	0.001					uc010qyh.1		NA																	0				pancreas(1)	1						c.(316-318)TCG>TCC		olfactory receptor, family 52, subfamily I,							288.0	280.0	283.0					11																	4608360		2201	4298	6499	SO:0001819	synonymous_variant	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608360G>C	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.318G>C	11.37:g.4608360G>C							p.S106S	NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	318	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	106			Extracellular (Potential).		B2RNJ5|B9EKV8|Q6IFJ8	Silent	SNP	ENST00000312614.4	37	c.318G>C	CCDS31355.1																																																																																				0.493	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		68	204	0	0	0	0	68	204				
OR10A5	144124	broad.mit.edu	37	11	6867339	6867339	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:6867339G>T	ENST00000299454.4	+	1	457	c.426G>T	c.(424-426)cgG>cgT	p.R142R	OR10A5_ENST00000379831.2_Silent_p.R146R			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	142					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAAGGACACGGGCCAAACTGG	0.537																																					Pancreas(44;21 1072 25662 28041 45559)	uc001met.1		NA																	0				skin(2)|ovary(1)	3						c.(424-426)CGG>CGT		olfactory receptor, family 10, subfamily A,							145.0	139.0	141.0					11																	6867339		2201	4296	6497	SO:0001819	synonymous_variant	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867339G>T	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.426G>T	11.37:g.6867339G>T							p.R142R	NM_178168	NP_835462	Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	426	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	142			Helical; Name=4; (Potential).		O95223|Q52M66|Q96R21|Q96R22	Silent	SNP	ENST00000299454.4	37	c.426G>T	CCDS7773.1																																																																																				0.537	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		16	194	1	0	2.35e-11	2.84e-11	16	194				
OR10A5	144124	broad.mit.edu	37	11	6867357	6867357	+	Silent	SNP	T	T	C	rs574256387	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:6867357T>C	ENST00000299454.4	+	1	475	c.444T>C	c.(442-444)gcT>gcC	p.A148A	OR10A5_ENST00000379831.2_Silent_p.A152A			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	148					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGCTGCTGCTTCCTGGTTCC	0.527													t|||	3	0.000599042	0.0008	0.0	5008	,	,		21750	0.0		0.0	False		,,,				2504	0.002				Pancreas(44;21 1072 25662 28041 45559)	uc001met.1		NA																	0				skin(2)|ovary(1)	3						c.(442-444)GCT>GCC		olfactory receptor, family 10, subfamily A,							139.0	132.0	134.0					11																	6867357		2201	4296	6497	SO:0001819	synonymous_variant	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867357T>C	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.444T>C	11.37:g.6867357T>C							p.A148A	NM_178168	NP_835462	Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	444	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	148			Helical; Name=4; (Potential).		O95223|Q52M66|Q96R21|Q96R22	Silent	SNP	ENST00000299454.4	37	c.444T>C	CCDS7773.1																																																																																				0.527	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		12	157	0	0	0	0	12	157				
OR10A2	341276	broad.mit.edu	37	11	6891366	6891366	+	Silent	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:6891366T>A	ENST00000307322.4	+	1	443	c.381T>A	c.(379-381)acT>acA	p.T127T		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACCAAAGGACTCGTGCCAAAC	0.537																																						uc001meu.1		NA																	0				breast(1)	1						c.(379-381)ACT>ACA		olfactory receptor, family 10, subfamily A,							161.0	152.0	155.0					11																	6891366		2201	4296	6497	SO:0001819	synonymous_variant	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891366T>A	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.381T>A	11.37:g.6891366T>A							p.T127T	NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	381	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	127			Helical; Name=4; (Potential).		B2RNL9|Q6IFG9	Silent	SNP	ENST00000307322.4	37	c.381T>A	CCDS31415.1																																																																																				0.537	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		7	235	0	0	0	0	7	235				
NELL1	4745	broad.mit.edu	37	11	20939793	20939793	+	Silent	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:20939793A>G	ENST00000357134.5	+	6	821	c.669A>G	c.(667-669)ctA>ctG	p.L223L	NELL1_ENST00000532434.1_Silent_p.L223L|NELL1_ENST00000325319.5_Silent_p.L166L|NELL1_ENST00000298925.5_Silent_p.L251L	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	223	Laminin G-like.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTCCAAATCTAAATCACAGTA	0.343																																						uc001mqe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(667-669)CTA>CTG		nel-like 1 isoform 1 precursor							135.0	129.0	131.0					11																	20939793		2203	4299	6502	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20939793A>G	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.669A>G	11.37:g.20939793A>G						NELL1_uc001mqf.2_Silent_p.L223L|NELL1_uc009yid.2_Silent_p.L251L|NELL1_uc010rdo.1_Silent_p.L166L|NELL1_uc010rdp.1_Intron	p.L223L	NM_006157	NP_006148	Q92832	NELL1_HUMAN			6	822	+			223			TSP N-terminal.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.669A>G	CCDS7855.1																																																																																				0.343	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		65	101	0	0	0	0	65	101				
NELL1	4745	broad.mit.edu	37	11	21581766	21581766	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:21581766C>T	ENST00000357134.5	+	17	1970	c.1818C>T	c.(1816-1818)acC>acT	p.T606T	NELL1_ENST00000532434.1_Silent_p.T559T|NELL1_ENST00000529218.1_Intron|NELL1_ENST00000325319.5_Silent_p.T549T|NELL1_ENST00000298925.5_Silent_p.T634T	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	606	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAACTCACACCTGTTGGAACG	0.502																																						uc001mqe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1816-1818)ACC>ACT		nel-like 1 isoform 1 precursor							153.0	138.0	143.0					11																	21581766		2203	4300	6503	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21581766C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1818C>T	11.37:g.21581766C>T						NELL1_uc001mqf.2_Silent_p.T559T|NELL1_uc009yid.2_Silent_p.T634T|NELL1_uc010rdo.1_Silent_p.T549T|NELL1_uc010rdp.1_Silent_p.T319T|NELL1_uc001mqh.2_Intron	p.T606T	NM_006157	NP_006148	Q92832	NELL1_HUMAN			17	1971	+			606			EGF-like 6; calcium-binding (Potential).		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.1818C>T	CCDS7855.1																																																																																				0.502	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		66	130	0	0	0	0	66	130				
SLC17A6	57084	broad.mit.edu	37	11	22360160	22360160	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:22360160C>G	ENST00000263160.3	+	1	518	c.81C>G	c.(79-81)atC>atG	p.I27M	CTD-2140G10.2_ENST00000530569.1_RNA|CTD-2140G10.2_ENST00000531304.1_RNA|CTD-2140G10.2_ENST00000528009.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	27					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.I27I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TCGGCCAGATCTACAGGTAAG	0.453																																						uc001mqk.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(3)|breast(1)	4						c.(79-81)ATC>ATG		solute carrier family 17 (sodium-dependent							56.0	59.0	58.0					11																	22360160		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22360160C>G	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.81C>G	11.37:g.22360160C>G	ENSP00000263160:p.Ile27Met						p.I27M	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			1	494	+			27			Cytoplasmic (Potential).		A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.81C>G	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560894	0.27827	.	.	ENSG00000091664	ENST00000263160	T	0.62105	0.05	5.27	5.27	0.74061	.	0.202218	0.50627	D	0.000117	T	0.43255	0.1239	N	0.08118	0	0.42109	D	0.991376	B	0.10296	0.003	B	0.14578	0.011	T	0.37776	-0.9691	10	0.48119	T	0.1	.	13.8319	0.63386	0.1528:0.8472:0.0:0.0	.	27	Q9P2U8	VGLU2_HUMAN	M	27	ENSP00000263160:I27M	ENSP00000263160:I27M	I	+	3	3	SLC17A6	22316736	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.950000	0.56676	2.465000	0.83290	0.655000	0.94253	ATC		0.453	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		15	32	0	0	0	0	15	32				
HIPK3	10114	broad.mit.edu	37	11	33375104	33375104	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:33375104C>A	ENST00000303296.4	+	17	3943	c.3638C>A	c.(3637-3639)cCa>cAa	p.P1213Q	AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000525975.1_Missense_Mutation_p.P1192Q|HIPK3_ENST00000456517.1_Missense_Mutation_p.P1192Q|HIPK3_ENST00000379016.3_Missense_Mutation_p.P1192Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1213					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AGCCAGTATCCATATATGTGA	0.353																																						uc001mul.1		NA																	0				large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						c.(3637-3639)CCA>CAA		homeodomain interacting protein kinase 3 isoform							56.0	51.0	53.0					11																	33375104		2202	4298	6500	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33375104C>A	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3638C>A	11.37:g.33375104C>A	ENSP00000304226:p.Pro1213Gln					HIPK3_uc001mum.1_Missense_Mutation_p.P1192Q|HIPK3_uc009yjv.1_Missense_Mutation_p.P1192Q	p.P1213Q	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN			17	3908	+			1213					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.3638C>A	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740688	0.49045	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.61980	0.06;0.09;0.06;0.06	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000020	T	0.78162	0.4240	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.75428	-0.3321	10	0.48119	T	0.1	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	1192;1213	Q9H422-2;Q9H422	.;HIPK3_HUMAN	Q	1192;1213;1192;1192	ENSP00000431710:P1192Q;ENSP00000304226:P1213Q;ENSP00000368301:P1192Q;ENSP00000398241:P1192Q	ENSP00000304226:P1213Q	P	+	2	0	HIPK3	33331680	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.294000	0.78760	2.868000	0.98415	0.557000	0.71058	CCA		0.353	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		51	57	1	0	2.28e-18	2.91e-18	51	57				
ALX4	60529	broad.mit.edu	37	11	44297071	44297071	+	Silent	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:44297071A>G	ENST00000329255.3	-	2	707	c.604T>C	c.(604-606)Ttg>Ctg	p.L202L		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	202					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCCTTCTCCAATGGGCTGGGG	0.617																																						uc001myb.2		NA																	0					0						c.(604-606)TTG>CTG		aristaless-like homeobox 4							115.0	125.0	121.0					11																	44297071		2203	4299	6502	SO:0001819	synonymous_variant	60529				hair follicle development			g.chr11:44297071A>G	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.604T>C	11.37:g.44297071A>G							p.L202L	NM_021926	NP_068745	Q9H161	ALX4_HUMAN			2	708	-			202					Q96JN7|Q9H198|Q9HAY9	Silent	SNP	ENST00000329255.3	37	c.604T>C	CCDS31468.1																																																																																				0.617	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			93	178	0	0	0	0	93	178				
LRP4	4038	broad.mit.edu	37	11	46896618	46896618	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:46896618G>A	ENST00000378623.1	-	28	4204	c.3962C>T	c.(3961-3963)tCc>tTc	p.S1321F	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1321					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCAGAGGTGGGAGCAGCCGCC	0.547																																						uc001ndn.3		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(3961-3963)TCC>TTC		low density lipoprotein receptor-related protein							32.0	36.0	34.0					11																	46896618		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46896618G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3962C>T	11.37:g.46896618G>A	ENSP00000367888:p.Ser1321Phe						p.S1321F	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	28	4108	-			1321			Extracellular (Potential).		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.3962C>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069059	0.55539	.	.	ENSG00000134569	ENST00000378623	D	0.97575	-4.44	5.67	5.67	0.87782	Epidermal growth factor-like (1);	0.055252	0.85682	D	0.000000	D	0.98406	0.9470	M	0.88105	2.93	0.52099	D	0.999945	P	0.49253	0.921	P	0.57548	0.823	D	0.99282	1.0896	10	0.87932	D	0	.	17.9629	0.89091	0.0:0.0:1.0:0.0	.	1321	O75096	LRP4_HUMAN	F	1321	ENSP00000367888:S1321F	ENSP00000367888:S1321F	S	-	2	0	LRP4	46853194	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.730000	0.68546	2.677000	0.91161	0.561000	0.74099	TCC		0.547	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		13	28	0	0	0	0	13	28				
OR4C16	219428	broad.mit.edu	37	11	55339627	55339628	+	Nonsense_Mutation	DNP	TG	TG	CT			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:55339627_55339628TG>CT	ENST00000314634.3	+	1	24_25	c.24_25TG>CT	c.(22-27)acTGag>acCTag	p.E9*		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATAATGTGACTGAGTTCATTCT	0.376																																						uc010rih.1		NA																	0				ovary(1)|skin(1)	2						c.(22-27)ACTGAG>ACCTAG		olfactory receptor, family 4, subfamily C,																																				SO:0001587	stop_gained	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339627_55339628TG>CT	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	Exception_encountered	11.37:g.55339627_55339628delinsCT	ENSP00000324913:p.Glu9*						p.E9*	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	24_25	+		all_epithelial(135;0.0748)	9			Extracellular (Potential).		Q6IEV8	Nonsense_Mutation	DNP	ENST00000314634.3	37	c.24_25TG>CT	CCDS31502.1																																																																																				0.376	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		5	115	0	0	0	0	5	115				
OR5M3	219482	broad.mit.edu	37	11	56237559	56237559	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:56237559A>G	ENST00000312240.2	-	1	455	c.415T>C	c.(415-417)Tgt>Cgt	p.C139R		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGTCGAATACAGACAACCCTT	0.398																																						uc010rjk.1		NA																	0				ovary(2)	2						c.(415-417)TGT>CGT		olfactory receptor, family 5, subfamily M,							100.0	92.0	95.0					11																	56237559		2201	4295	6496	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237559A>G	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.415T>C	11.37:g.56237559A>G	ENSP00000312208:p.Cys139Arg						p.C139R	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			1	415	-	Esophageal squamous(21;0.00448)		139			Helical; Name=4; (Potential).		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.415T>C	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.683704	0.47991	.	.	ENSG00000174937	ENST00000312240	T	0.00241	8.46	5.13	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000091	T	0.00496	0.0016	M	0.79123	2.44	0.30850	N	0.734686	D	0.89917	1.0	D	0.97110	1.0	T	0.28681	-1.0036	10	0.87932	D	0	-15.9251	9.5671	0.39405	0.9159:0.0:0.0841:0.0	.	139	Q8NGP4	OR5M3_HUMAN	R	139	ENSP00000312208:C139R	ENSP00000312208:C139R	C	-	1	0	OR5M3	55994135	0.284000	0.24287	0.754000	0.31244	0.838000	0.47535	2.313000	0.43735	0.805000	0.34159	0.391000	0.25812	TGT		0.398	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		67	130	0	0	0	0	67	130				
OR5A2	219981	broad.mit.edu	37	11	59190426	59190426	+	Start_Codon_SNP	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:59190426T>C	ENST00000302040.4	-	1	23	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCTACAGCCATAGGCCTGCTT	0.378																																						uc010rkt.1		NA																	0					0						c.(1-3)ATG>GTG		olfactory receptor, family 5, subfamily A,							107.0	108.0	108.0					11																	59190426		2201	4295	6496	SO:0001582	initiator_codon_variant	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59190426T>C	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.1A>G	11.37:g.59190426T>C	ENSP00000303834:p.Met1Val						p.M1V	NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN			1	1	-			1			Extracellular (Potential).		B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	c.1A>G	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.804448	0.50315	.	.	ENSG00000172324	ENST00000302040	T	0.00000	9.94	5.3	4.17	0.49024	.	0.000000	0.42294	U	0.000722	T	0.00073	0.0002	.	.	.	0.48341	D	0.99963	B	0.34372	0.451	B	0.26517	0.07	D	0.84850	0.0813	9	0.87932	D	0	.	9.5034	0.39031	0.0:0.0846:0.0:0.9154	.	1	Q8NGI9	OR5A2_HUMAN	V	1	ENSP00000303834:M1V	ENSP00000303834:M1V	M	-	1	0	OR5A2	58947002	0.002000	0.14202	0.011000	0.14972	0.796000	0.44982	1.117000	0.31234	0.969000	0.38237	0.377000	0.23210	ATG		0.378	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954	Missense_Mutation	77	182	0	0	0	0	77	182				
PITPNM1	9600	broad.mit.edu	37	11	67261436	67261436	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:67261436G>A	ENST00000534749.1	-	19	3153	c.2965C>T	c.(2965-2967)Cgc>Tgc	p.R989C	PITPNM1_ENST00000356404.3_Missense_Mutation_p.R989C|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000436757.2_Missense_Mutation_p.R988C			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	989					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCCAGCGCGCGTTCTGGGGGA	0.682																																					GBM(28;144 709 4607 5525)	uc001olx.2		NA																	0				lung(2)|central_nervous_system(1)	3						c.(2965-2967)CGC>TGC		phosphatidylinositol transfer protein,							39.0	36.0	37.0					11																	67261436		2198	4293	6491	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67261436G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2965C>T	11.37:g.67261436G>A	ENSP00000437286:p.Arg989Cys					PITPNM1_uc001olw.2_Missense_Mutation_p.R271C|PITPNM1_uc001oly.2_Missense_Mutation_p.R989C|PITPNM1_uc001olz.2_Missense_Mutation_p.R988C	p.R989C	NM_004910	NP_004901	O00562	PITM1_HUMAN			19	3154	-			989					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.2965C>T	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406313	0.25378	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.49139	0.79;0.79;0.79	4.02	4.02	0.46733	.	0.827182	0.10161	N	0.708274	T	0.47875	0.1469	L	0.43923	1.385	0.20638	N	0.999874	D;P	0.54207	0.965;0.926	P;B	0.48627	0.584;0.306	T	0.37454	-0.9705	10	0.87932	D	0	-13.4407	9.6702	0.40008	0.0:0.0:0.6698:0.3301	.	988;989	O00562-2;O00562	.;PITM1_HUMAN	C	989;988;989	ENSP00000437286:R989C;ENSP00000398787:R988C;ENSP00000348772:R989C	ENSP00000348772:R989C	R	-	1	0	PITPNM1	67018012	0.998000	0.40836	0.743000	0.31040	0.089000	0.18198	4.634000	0.61325	1.966000	0.57179	0.305000	0.20034	CGC		0.682	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		9	20	0	0	0	0	9	20				
KRTAP5-10	387273	broad.mit.edu	37	11	71276971	71276971	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:71276971G>A	ENST00000398531.1	+	1	363	c.338G>A	c.(337-339)gGc>gAc	p.G113D	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	113	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCCAAGGGGGGCTGTGGCTCC	0.657																																						uc001oqt.1		NA																	0				skin(1)	1						c.(337-339)GGC>GAC		keratin associated protein 5-10							48.0	71.0	63.0					11																	71276971		2178	4284	6462	SO:0001583	missense	387273					keratin filament		g.chr11:71276971G>A	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.338G>A	11.37:g.71276971G>A	ENSP00000381542:p.Gly113Asp						p.G113D	NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN			1	363	+			113			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Missense_Mutation	SNP	ENST00000398531.1	37	c.338G>A	CCDS41684.1	.	.	.	.	.	.	.	.	.	.	.	7.439	0.640307	0.14386	.	.	ENSG00000204572	ENST00000398531	T	0.01159	5.25	1.94	1.94	0.25998	.	.	.	.	.	T	0.04543	0.0124	M	0.83774	2.66	0.26224	N	0.979114	D	0.54047	0.964	P	0.54401	0.751	T	0.14783	-1.0460	9	0.66056	D	0.02	.	9.8658	0.41142	0.0:0.0:1.0:0.0	.	113	Q6L8G5	KR510_HUMAN	D	113	ENSP00000381542:G113D	ENSP00000381542:G113D	G	+	2	0	KRTAP5-10	70954619	0.233000	0.23772	0.993000	0.49108	0.157000	0.22087	0.974000	0.29436	1.411000	0.46957	0.460000	0.39030	GGC		0.657	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			5	168	0	0	0	0	5	168				
NARS2	79731	broad.mit.edu	37	11	78279726	78279726	+	Silent	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:78279726C>A	ENST00000281038.5	-	3	699	c.324G>T	c.(322-324)gtG>gtT	p.V108V	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	108					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CCTTCAGTTCCACATTTTGCC	0.348																																						uc001ozi.2		NA																	0				ovary(2)	2						c.(322-324)GTG>GTT		asparaginyl-tRNA synthetase 2, mitochondrial	L-Asparagine(DB00174)						191.0	180.0	183.0					11																	78279726		2200	4291	6491	SO:0001819	synonymous_variant	79731				asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr11:78279726C>A	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.324G>T	11.37:g.78279726C>A						NARS2_uc010rsq.1_5'UTR	p.V108V	NM_024678	NP_078954	Q96I59	SYNM_HUMAN			3	700	-	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)		108					G3V178	Silent	SNP	ENST00000281038.5	37	c.324G>T	CCDS8261.1																																																																																				0.348	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		53	117	1	0	1.63e-21	2.11e-21	53	117				
DLG2	1740	broad.mit.edu	37	11	83673957	83673957	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:83673957C>A	ENST00000532653.1	-	9	1298	c.996G>T	c.(994-996)aaG>aaT	p.K332N	DLG2_ENST00000398301.2_Missense_Mutation_p.K371N|DLG2_ENST00000280241.8_Missense_Mutation_p.K371N|DLG2_ENST00000524982.1_Missense_Mutation_p.K332N|DLG2_ENST00000537455.1_Missense_Mutation_p.K86N|DLG2_ENST00000376104.2_Missense_Mutation_p.K437N|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.K271N|DLG2_ENST00000543673.1_Missense_Mutation_p.K437N|DLG2_ENST00000398309.2_Missense_Mutation_p.K332N|DLG2_ENST00000418306.2_Missense_Mutation_p.K281N|DLG2_ENST00000531015.1_Missense_Mutation_p.K299N			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CAAGCATGTGCTTTGGAATTG	0.428																																						uc001paj.2		NA																	0				ovary(3)|pancreas(2)|skin(1)	6						c.(994-996)AAG>AAT		chapsyn-110 isoform 2							198.0	188.0	191.0					11																	83673957		1931	4137	6068	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83673957C>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.996G>T	11.37:g.83673957C>A	ENSP00000435849:p.Lys332Asn					DLG2_uc001pai.2_Missense_Mutation_p.K281N|DLG2_uc010rsy.1_Missense_Mutation_p.K299N|DLG2_uc010rsz.1_Missense_Mutation_p.K332N|DLG2_uc010rta.1_Missense_Mutation_p.K332N|DLG2_uc001pak.2_Missense_Mutation_p.K437N|DLG2_uc010rtb.1_Missense_Mutation_p.K299N|DLG2_uc001pal.1_Missense_Mutation_p.K332N|DLG2_uc001pam.1_Missense_Mutation_p.K371N	p.K332N	NM_001364	NP_001355	Q15700	DLG2_HUMAN			9	1299	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	332					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.996G>T		.	.	.	.	.	.	.	.	.	.	C	19.09	3.759236	0.69763	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T;T	0.20200	2.62;2.62;2.43;2.62;2.58;2.54;2.33;2.62;2.58;2.43;2.09	5.79	5.79	0.91817	PDZ-associated domain of NMDA receptors (1);	0.000000	0.64402	D	0.000001	T	0.43678	0.1258	M	0.64404	1.975	0.80722	D	1	P;B;P;B;D;P;P;P	0.52996	0.65;0.229;0.624;0.351;0.957;0.804;0.624;0.597	P;B;P;B;P;P;P;B	0.60473	0.574;0.124;0.579;0.187;0.875;0.545;0.653;0.438	T	0.04268	-1.0964	9	.	.	.	.	20.0417	0.97594	0.0:1.0:0.0:0.0	.	299;332;332;271;371;437;332;281	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	N	332;437;281;437;371;271;86;332;332;437;299;371	ENSP00000381355:K332N;ENSP00000365272:K437N;ENSP00000402275:K281N;ENSP00000441994:K437N;ENSP00000280241:K371N;ENSP00000381353:K271N;ENSP00000443248:K86N;ENSP00000432894:K332N;ENSP00000435849:K332N;ENSP00000433848:K299N;ENSP00000381346:K371N	.	K	-	3	2	DLG2	83351605	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.277000	0.43417	2.736000	0.93811	0.655000	0.94253	AAG		0.428	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		73	189	1	0	1.14e-45	1.53e-45	73	189				
GRM5	2915	broad.mit.edu	37	11	88386571	88386571	+	Splice_Site	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:88386571A>T	ENST00000305447.4	-	3	1061	c.912T>A	c.(910-912)agT>agA	p.S304R	GRM5_ENST00000305432.5_Splice_Site_p.S304R|GRM5_ENST00000418177.2_Splice_Site_p.S304R|GRM5_ENST00000393297.1_Splice_Site_p.S304R|GRM5_ENST00000455756.2_Splice_Site_p.S304R	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	304					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CCCAGCCATCACTGTGGGGAA	0.433																																						uc001pcq.2		NA																	0				central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(910-912)AGT>AGA		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						58.0	58.0	58.0					11																	88386571		2201	4299	6500	SO:0001630	splice_region_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88386571A>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.912-1T>A	11.37:g.88386571A>T						GRM5_uc009yvm.2_Missense_Mutation_p.S304R	p.S304R	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			3	1112	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	304			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.912T>A	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907156	0.72868	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99	5.88	2.4	0.29515	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92714	0.7684	M	0.92507	3.315	0.53005	D	0.99996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91768	0.5425	9	.	.	.	.	8.9545	0.35809	0.7916:0.0:0.2084:0.0	.	304;304	P41594-2;P41594	.;GRM5_HUMAN	R	304	ENSP00000402912:S304R;ENSP00000405690:S304R;ENSP00000305905:S304R;ENSP00000306138:S304R;ENSP00000376975:S304R	.	S	-	3	2	GRM5	88026219	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.960000	0.40422	0.503000	0.28060	0.482000	0.46254	AGT		0.433	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	Missense_Mutation	28	30	0	0	0	0	28	30				
Unknown	0	broad.mit.edu	37	11	89819194	89819194	+	IGR	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:89819194G>C								TRIM49C (12636 upstream) : SNORD56 (32364 downstream)																							GAGAATAATCGCCCATCTGAT	0.418																																						uc010rub.1		NA																	0					0						c.(76-78)CGC>CCC		upstream binding transcription factor, RNA							44.0	28.0	33.0					11																	89819194		689	1566	2255	SO:0001628	intergenic_variant	642623				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr11:89819194G>C																													11.37:g.89819194G>C							p.R26P	NM_001143975	NP_001137447	P0CB47	UBFL1_HUMAN			1	77	+			26						Missense_Mutation	SNP		37	c.77G>C																																																																																				0	0.418									30	80	0	0	0	0	30	80				
FAT3	120114	broad.mit.edu	37	11	92085313	92085313	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:92085313G>T	ENST00000298047.6	+	1	52	c.35G>T	c.(34-36)cGg>cTg	p.R12L	FAT3_ENST00000525166.1_5'Flank|FAT3_ENST00000541502.1_Missense_Mutation_p.R12L|FAT3_ENST00000409404.2_Missense_Mutation_p.R12L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	12					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGGCACACGGCCTCCTGCT	0.502										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(34-36)CGG>CTG		FAT tumor suppressor homolog 3							49.0	51.0	50.0					11																	92085313		1970	4141	6111	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085313G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.35G>T	11.37:g.92085313G>T	ENSP00000298047:p.Arg12Leu	TCGA Ovarian(4;0.039)					p.R12L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	52	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	12					B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.35G>T		.	.	.	.	.	.	.	.	.	.	G	5.518	0.280549	0.10458	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502	T;T;T	0.75821	-0.96;-0.97;0.36	5.51	4.59	0.56863	.	.	.	.	.	T	0.64735	0.2625	L	0.42245	1.32	0.18873	N	0.999986	B	0.02656	0.0	B	0.04013	0.001	T	0.51593	-0.8686	9	0.25751	T	0.34	.	9.1419	0.36908	0.0749:0.0:0.7808:0.1443	.	12	Q8TDW7-3	.	L	12	ENSP00000298047:R12L;ENSP00000387040:R12L;ENSP00000443786:R12L	ENSP00000298047:R12L	R	+	2	0	FAT3	91724961	0.936000	0.31750	0.660000	0.29694	0.141000	0.21300	2.095000	0.41729	1.428000	0.47296	0.655000	0.94253	CGG		0.502	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		11	85	1	0	9.31e-06	1.04e-05	11	85				
FAT3	120114	broad.mit.edu	37	11	92086560	92086560	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:92086560C>A	ENST00000298047.6	+	1	1299	c.1282C>A	c.(1282-1284)Ctg>Atg	p.L428M	FAT3_ENST00000525166.1_Missense_Mutation_p.L278M|FAT3_ENST00000541502.1_Missense_Mutation_p.L428M|FAT3_ENST00000409404.2_Missense_Mutation_p.L428M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	428	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCGGTCGGGTCTGATTGTTAC	0.408										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(1282-1284)CTG>ATG		FAT tumor suppressor homolog 3							56.0	52.0	53.0					11																	92086560		1866	4100	5966	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086560C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1282C>A	11.37:g.92086560C>A	ENSP00000298047:p.Leu428Met	TCGA Ovarian(4;0.039)					p.L428M	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	1299	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	428			Extracellular (Potential).|Cadherin 4.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.1282C>A		.	.	.	.	.	.	.	.	.	.	C	9.607	1.130323	0.21041	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	5.62	1.7	0.24286	.	.	.	.	.	T	0.69260	0.3091	M	0.67953	2.075	0.31422	N	0.674222	D	0.69078	0.997	D	0.65874	0.939	T	0.69760	-0.5058	9	0.56958	D	0.05	.	10.0552	0.42241	0.0:0.73:0.0:0.27	.	428	Q8TDW7-3	.	M	428;428;428;278	ENSP00000298047:L428M;ENSP00000387040:L428M;ENSP00000443786:L428M;ENSP00000432586:L278M	ENSP00000298047:L428M	L	+	1	2	FAT3	91726208	0.944000	0.32072	0.964000	0.40570	0.246000	0.25737	1.059000	0.30517	0.337000	0.23665	-0.794000	0.03295	CTG		0.408	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		9	20	1	0	1.59e-06	1.8e-06	9	20				
CEP57	9702	broad.mit.edu	37	11	95564303	95564303	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:95564303G>A	ENST00000325542.5	+	11	1624	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	CEP57_ENST00000325486.5_Silent_p.K436K|CEP57_ENST00000541150.1_Silent_p.K453K|CEP57_ENST00000537677.1_Silent_p.K435K	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	462	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCACAAATAAGAAAGATTTTA	0.363									Mosaic Variegated Aneuploidy Syndrome																													uc001pfp.1		NA																	0				ovary(1)	1						c.(1384-1386)AAG>AAA		translokin							65.0	67.0	67.0					11																	95564303		2200	4297	6497	SO:0001819	synonymous_variant	9702	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity	g.chr11:95564303G>A	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.1386G>A	11.37:g.95564303G>A						CEP57_uc010ruh.1_Silent_p.K453K|CEP57_uc010rui.1_Silent_p.K436K|CEP57_uc009ywn.1_Silent_p.K310K|CEP57_uc001pfq.1_Silent_p.K436K|CEP57_uc001pfr.1_Silent_p.K310K	p.K462K	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN			11	1607	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	462			Mediates interaction with microtubules (By similarity).|Potential.		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Silent	SNP	ENST00000325542.5	37	c.1386G>A	CCDS8304.1	.	.	.	.	.	.	.	.	.	.	G	0.798	-0.756576	0.03019	.	.	ENSG00000166037	ENST00000535224	.	.	.	5.52	4.61	0.57282	.	.	.	.	.	T	0.62756	0.2454	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60924	-0.7166	4	.	.	.	-6.4628	11.2262	0.48886	0.1591:0.0:0.8409:0.0	.	.	.	.	K	252	.	.	E	+	1	0	CEP57	95203951	1.000000	0.71417	0.996000	0.52242	0.298000	0.27526	0.805000	0.27112	1.324000	0.45282	0.557000	0.71058	GAA		0.363	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		9	60	0	0	0	0	9	60				
CNTN5	53942	broad.mit.edu	37	11	100211321	100211321	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:100211321T>C	ENST00000524871.1	+	22	3147	c.2857T>C	c.(2857-2859)Tac>Cac	p.Y953H	CNTN5_ENST00000279463.3_Missense_Mutation_p.Y953H|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.Y879H|CNTN5_ENST00000528682.1_Missense_Mutation_p.Y953H	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	953	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGTGAGGGCTTACAATGGAGC	0.448																																						uc001pga.2		NA																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(2857-2859)TAC>CAC		contactin 5 isoform long							84.0	82.0	83.0					11																	100211321		1914	4137	6051	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100211321T>C	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2857T>C	11.37:g.100211321T>C	ENSP00000435637:p.Tyr953His					CNTN5_uc001pgb.2_Missense_Mutation_p.Y879H|CNTN5_uc010ruk.1_Missense_Mutation_p.Y224H	p.Y953H	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	22	3196	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	953			Fibronectin type-III 3.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.2857T>C	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.009391	0.75046	.	.	ENSG00000149972	ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.18	5.18	0.71444	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.112092	0.64402	D	0.000007	T	0.67571	0.2907	M	0.75884	2.315	0.45366	D	0.998351	P;D	0.57257	0.955;0.979	P;P	0.58331	0.643;0.837	T	0.70040	-0.4981	9	.	.	.	.	14.1943	0.65659	0.0:0.0:0.0:1.0	.	879;953	O94779-2;O94779	.;CNTN5_HUMAN	H	953;953;879;953	ENSP00000436185:Y953H;ENSP00000435637:Y953H;ENSP00000393229:Y879H;ENSP00000279463:Y953H	.	Y	+	1	0	CNTN5	99716531	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.387000	0.66243	1.952000	0.56665	0.482000	0.46254	TAC		0.448	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		9	26	0	0	0	0	9	26				
KIAA1377	57562	broad.mit.edu	37	11	101863550	101863550	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:101863550A>G	ENST00000263468.8	+	10	3556	c.3286A>G	c.(3286-3288)Act>Gct	p.T1096A	KIAA1377_ENST00000537689.1_Missense_Mutation_p.T897A	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1096										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CATCAAAAATACTTTACAAAT	0.259																																						uc001pgm.2		NA																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(3286-3288)ACT>GCT		hypothetical protein LOC57562							27.0	29.0	29.0					11																	101863550		2188	4263	6451	SO:0001583	missense	57562						protein binding	g.chr11:101863550A>G	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.3286A>G	11.37:g.101863550A>G	ENSP00000263468:p.Thr1096Ala					KIAA1377_uc001pgn.2_Missense_Mutation_p.T1052A|KIAA1377_uc010run.1_Missense_Mutation_p.T897A	p.T1096A	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	10	3556	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	1096					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.3286A>G	CCDS31658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.64|11.64	1.700022|1.700022	0.30142|0.30142	.|.	.|.	ENSG00000110318|ENSG00000110318	ENST00000263468;ENST00000537689|ENST00000532077	T;T|.	0.08282|.	3.26;3.11|.	5.33|5.33	4.2|4.2	0.49525|0.49525	.|.	0.321960|.	0.27060|.	N|.	0.021128|.	T|T	0.44973|0.44973	0.1319|0.1319	L|L	0.57536|0.57536	1.79|1.79	0.26225|0.26225	N|N	0.979105|0.979105	B|.	0.20671|.	0.047|.	B|.	0.21151|.	0.033|.	T|T	0.33163|0.33163	-0.9879|-0.9879	10|5	0.29301|.	T|.	0.29|.	-0.2939|-0.2939	8.3749|8.3749	0.32436|0.32436	0.8365:0.0:0.1635:0.0|0.8365:0.0:0.1635:0.0	.|.	1096|.	Q9P2H0|.	K1377_HUMAN|.	A|C	1096;897|59	ENSP00000263468:T1096A;ENSP00000443184:T897A|.	ENSP00000263468:T1096A|.	T|Y	+|+	1|2	0|0	KIAA1377|KIAA1377	101368760|101368760	0.999000|0.999000	0.42202|0.42202	0.996000|0.996000	0.52242|0.52242	0.923000|0.923000	0.55619|0.55619	1.473000|1.473000	0.35387|0.35387	0.967000|0.967000	0.38186|0.38186	0.477000|0.477000	0.44152|0.44152	ACT|TAC		0.259	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		6	27	0	0	0	0	6	27				
MMP1	4312	broad.mit.edu	37	11	102663349	102663349	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:102663349G>A	ENST00000315274.6	-	7	1087	c.1020C>T	c.(1018-1020)gtC>gtT	p.V340V	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	340					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	TGAAAAACCGGACTTCATCTC	0.388																																						uc001phi.2		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(1018-1020)GTC>GTT		matrix metalloproteinase 1 isoform 1							114.0	117.0	116.0					11																	102663349		2203	4299	6502	SO:0001819	synonymous_variant	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102663349G>A	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.1020C>T	11.37:g.102663349G>A						uc001phh.1_Intron|MMP1_uc010ruv.1_Silent_p.V274V	p.V340V	NM_002421	NP_002412	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	7	1163	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	340			Hemopexin-like 2.		P08156	Silent	SNP	ENST00000315274.6	37	c.1020C>T	CCDS8322.1																																																																																				0.388	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		30	156	0	0	0	0	30	156				
CADM1	23705	broad.mit.edu	37	11	115047259	115047259	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:115047259T>C	ENST00000452722.3	-	10	1284	c.1264A>G	c.(1264-1266)Aca>Gca	p.T422A	CADM1_ENST00000331581.6_Missense_Mutation_p.T451A|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Missense_Mutation_p.T394A|CADM1_ENST00000536727.1_Missense_Mutation_p.T423A|CADM1_ENST00000537058.1_Missense_Mutation_p.T433A	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		ATTATAGCTGTGTCTGCGTCT	0.463																																						uc001ppi.3		NA																	0				ovary(2)	2						c.(1264-1266)ACA>GCA		immunoglobulin superfamily, member 4D isoform 1							268.0	240.0	250.0					11																	115047259		2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115047259T>C	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1264A>G	11.37:g.115047259T>C	ENSP00000395359:p.Thr422Ala					CADM1_uc001ppf.3_Intron|CADM1_uc001ppk.3_Missense_Mutation_p.T394A|CADM1_uc001ppj.3_Missense_Mutation_p.T423A|CADM1_uc001pph.3_Missense_Mutation_p.T185A	p.T422A	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	10	1393	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	422			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000452722.3	37	c.1264A>G	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.94|17.94	3.512362|3.512362	0.64522|0.64522	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000545380|ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000541325	.|T;T;T;T;T	.|0.70631	.|-0.5;0.07;0.36;-0.01;0.15	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|0.113303	.|0.64402	.|D	.|0.000016	T|T	0.76550|0.76550	0.4003|0.4003	L|L	0.28504|0.28504	0.86|0.86	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.994;0.997	.|D;D;D	.|0.81914	.|0.995;0.97;0.952	T|T	0.79262|0.79262	-0.1876|-0.1876	5|10	.|0.66056	.|D	.|0.02	.|.	15.5185|15.5185	0.75846|0.75846	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|433;395;422	.|F5H0J4;A4FVB5;Q9BY67	.|.;.;CADM1_HUMAN	R|A	392|394;422;433;423;353;451;107	.|ENSP00000439176:T394A;ENSP00000395359:T422A;ENSP00000439817:T433A;ENSP00000440322:T423A;ENSP00000329797:T451A	.|ENSP00000329797:T451A	H|T	-|-	2|1	0|0	CADM1|CADM1	114552469|114552469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.868000|7.868000	0.87116|0.87116	2.246000|2.246000	0.74042|0.74042	0.533000|0.533000	0.62120|0.62120	CAC|ACA		0.463	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		61	145	0	0	0	0	61	145				
ARHGEF12	23365	broad.mit.edu	37	11	120350888	120350888	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:120350888G>A	ENST00000397843.2	+	38	4152	c.3986G>A	c.(3985-3987)cGg>cAg	p.R1329Q	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R1226Q|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R1310Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1329					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TACAGTCCACGGACTTCAACT	0.448			T	MLL	AML																																	uc001pxl.1		NA		Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(3985-3987)CGG>CAG		Rho guanine nucleotide exchange factor (GEF) 12							133.0	127.0	128.0					11																	120350888		1903	4121	6024	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120350888G>A	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3986G>A	11.37:g.120350888G>A	ENSP00000380942:p.Arg1329Gln					ARHGEF12_uc009zat.2_Missense_Mutation_p.R1310Q|ARHGEF12_uc009zau.1_Missense_Mutation_p.R1226Q	p.R1329Q	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	38	3993	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1329					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.3986G>A	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686386	0.88639	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.69685	-0.32;-0.42;-0.3	5.65	3.79	0.43588	.	0.000000	0.45126	D	0.000381	T	0.70098	0.3185	L	0.29908	0.895	0.30896	N	0.72985	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.978	T	0.69386	-0.5159	10	0.33940	T	0.23	-9.5154	12.2582	0.54634	0.1374:0.0:0.8626:0.0	.	1310;1329	Q9NZN5-2;Q9NZN5	.;ARHGC_HUMAN	Q	1329;1310;1226	ENSP00000380942:R1329Q;ENSP00000349056:R1310Q;ENSP00000432984:R1226Q	ENSP00000349056:R1310Q	R	+	2	0	ARHGEF12	119856098	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.105000	0.50314	0.747000	0.32809	0.650000	0.86243	CGG		0.448	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		40	166	0	0	0	0	40	166				
ROBO4	54538	broad.mit.edu	37	11	124761403	124761403	+	Silent	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:124761403A>G	ENST00000306534.3	-	12	2225	c.1740T>C	c.(1738-1740)acT>acC	p.T580T	RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Silent_p.T435T	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	580					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGCCATAAAAAGTGCTGGTGT	0.622																																						uc001qbg.2		NA																	0				ovary(1)|skin(1)	2						c.(1738-1740)ACT>ACC		roundabout homolog 4, magic roundabout							40.0	52.0	48.0					11																	124761403		2201	4299	6500	SO:0001819	synonymous_variant	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124761403A>G	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1740T>C	11.37:g.124761403A>G						ROBO4_uc010sas.1_Silent_p.T435T|ROBO4_uc001qbh.2_Silent_p.T470T|ROBO4_uc001qbi.2_Silent_p.T138T|ROBO4_uc010sat.1_Silent_p.T138T	p.T580T	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	12	1880	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	580					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	c.1740T>C	CCDS8455.1																																																																																				0.622	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		17	55	0	0	0	0	17	55				
CDON	50937	broad.mit.edu	37	11	125885306	125885306	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:125885306C>G	ENST00000392693.3	-	7	1155	c.1028G>C	c.(1027-1029)tGt>tCt	p.C343S	CDON_ENST00000263577.7_Missense_Mutation_p.C343S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	343	Ig-like C2-type 4.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		AAACCAGGTACAGTTGGGGGC	0.488																																						uc009zbw.2		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(1027-1029)TGT>TCT		surface glycoprotein, Ig superfamily member							110.0	92.0	98.0					11																	125885306		2201	4299	6500	SO:0001583	missense	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125885306C>G	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.1028G>C	11.37:g.125885306C>G	ENSP00000376458:p.Cys343Ser					CDON_uc001qdc.3_Missense_Mutation_p.C343S|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Missense_Mutation_p.C343S	p.C343S	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	7	1156	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	343			Extracellular (Potential).|Ig-like C2-type 4.		O14631	Missense_Mutation	SNP	ENST00000392693.3	37	c.1028G>C	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	C	8.306	0.821113	0.16678	.	.	ENSG00000064309	ENST00000392693;ENST00000263577	T;T	0.66638	-0.22;-0.22	5.58	2.41	0.29592	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.612663	0.14518	N	0.314664	T	0.49626	0.1568	N	0.14661	0.345	0.09310	N	1	B;B	0.27166	0.17;0.141	B;B	0.33620	0.167;0.047	T	0.48352	-0.9043	10	0.66056	D	0.02	-0.0617	7.4778	0.27387	0.5477:0.3654:0.0:0.0869	.	343;343	Q4KMG0;Q4KMG0-2	CDON_HUMAN;.	S	343	ENSP00000376458:C343S;ENSP00000263577:C343S	ENSP00000263577:C343S	C	-	2	0	CDON	125390516	0.902000	0.30710	0.002000	0.10522	0.205000	0.24178	4.981000	0.63819	0.709000	0.31976	-0.314000	0.08810	TGT		0.488	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		11	85	0	0	0	0	11	85				
ST14	6768	broad.mit.edu	37	11	130060396	130060396	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:130060396T>A	ENST00000278742.5	+	7	1100	c.682T>A	c.(682-684)Ttc>Atc	p.F228I		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	228	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCTGATGCGCTTCACCACGCC	0.697																																						uc001qfw.2		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(682-684)TTC>ATC		matriptase	Urokinase(DB00013)						29.0	32.0	31.0					11																	130060396		2201	4296	6497	SO:0001583	missense	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130060396T>A	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.682T>A	11.37:g.130060396T>A	ENSP00000278742:p.Phe228Ile					ST14_uc010sca.1_Missense_Mutation_p.F38I	p.F228I	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	7	875	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	228			Extracellular (Potential).|CUB 1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	c.682T>A	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.614602	0.46631	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	T	0.26223	1.75	5.45	5.45	0.79879	CUB (5);	0.000000	0.39759	N	0.001264	T	0.31104	0.0786	N	0.16903	0.455	0.53688	D	0.999974	D;B	0.63880	0.993;0.012	D;B	0.63113	0.911;0.029	T	0.07751	-1.0756	10	0.22706	T	0.39	.	15.1939	0.73071	0.0:0.0:0.0:1.0	.	38;228	B4DYI7;Q9Y5Y6	.;ST14_HUMAN	I	228;130	ENSP00000278742:F228I	ENSP00000278742:F228I	F	+	1	0	ST14	129565606	1.000000	0.71417	0.999000	0.59377	0.307000	0.27823	3.362000	0.52314	2.077000	0.62373	0.528000	0.53228	TTC		0.697	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			9	67	0	0	0	0	9	67				
RAPGEF3	10411	broad.mit.edu	37	12	48141546	48141546	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:48141546G>T	ENST00000449771.2	-	14	1510	c.1422C>A	c.(1420-1422)gcC>gcA	p.A474A	RAPGEF3_ENST00000389212.3_Silent_p.A474A|RAPGEF3_ENST00000395358.3_Silent_p.A474A|RAPGEF3_ENST00000548919.1_Silent_p.A432A|RAPGEF3_ENST00000171000.4_Silent_p.A432A|RAPGEF3_ENST00000405493.2_Silent_p.A432A|RAPGEF3_ENST00000549151.1_Silent_p.A432A			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	474	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGCCATACAGGGCCACCCACT	0.657																																						uc009zkp.2		NA																	0				lung(2)|skin(1)|pancreas(1)	4						c.(1294-1296)GCC>GCA		Rap guanine nucleotide exchange factor 3 isoform							37.0	38.0	38.0					12																	48141546		2203	4300	6503	SO:0001819	synonymous_variant	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48141546G>T	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1422C>A	12.37:g.48141546G>T						RAPGEF3_uc001rpx.2_5'Flank|RAPGEF3_uc010sln.1_5'UTR|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Silent_p.A432A|RAPGEF3_uc001rpz.3_Silent_p.A474A|RAPGEF3_uc001rqa.2_5'UTR	p.A432A	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	13	1736	-	Lung SC(27;0.192)		432					A8K2G5|E7EQC8|O95634|Q8WVN0	Silent	SNP	ENST00000449771.2	37	c.1296C>A	CCDS41775.1																																																																																				0.657	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		7	45	1	0	2.74e-10	3.27e-10	7	45				
ANP32D	23519	broad.mit.edu	37	12	48866821	48866821	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:48866821T>A	ENST00000266594.1	+	1	374	c.374T>A	c.(373-375)gTa>gAa	p.V125E		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	125						nuclear matrix (GO:0016363)				central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						ACTTGCGAGGTAACCAACCTG	0.448																																						uc010slt.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(373-375)GTA>GAA		acidic nuclear phosphoprotein 32D							85.0	84.0	85.0					12																	48866821		2203	4300	6503	SO:0001583	missense	23519							g.chr12:48866821T>A	U71084	CCDS31788.1	12q13.12	2008-08-04			ENSG00000139223	ENSG00000139223		"""ANP32 acidic nuclear phosphoproteins"""	16676	protein-coding gene	gene with protein product	"""pp32 related 2"""	606878				10086381, 10400610	Standard	NM_012404		Approved	PP32R2	uc010slt.2	O95626	OTTHUMG00000162681	ENST00000266594.1:c.374T>A	12.37:g.48866821T>A	ENSP00000266594:p.Val125Glu						p.V125E	NM_012404	NP_036536	O95626	AN32D_HUMAN			1	374	+			125			LRR 5.		Q6NTC4	Missense_Mutation	SNP	ENST00000266594.1	37	c.374T>A	CCDS31788.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.045449	0.55110	.	.	ENSG00000139223	ENST00000266594	T	0.26810	1.71	1.67	1.67	0.24075	.	0.054732	0.64402	D	0.000001	T	0.61602	0.2360	H	0.98466	4.24	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	T	0.66520	-0.5903	10	0.87932	D	0	.	7.1398	0.25550	0.0:0.0:0.0:1.0	.	125	O95626	AN32D_HUMAN	E	125	ENSP00000266594:V125E	ENSP00000266594:V125E	V	+	2	0	ANP32D	47153088	1.000000	0.71417	0.002000	0.10522	0.107000	0.19398	5.146000	0.64845	0.805000	0.34159	0.405000	0.27470	GTA		0.448	ANP32D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370058.1	NM_012404		18	95	0	0	0	0	18	95				
SLC4A8	9498	broad.mit.edu	37	12	51834519	51834519	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:51834519C>T	ENST00000453097.2	+	2	293	c.76C>T	c.(76-78)Cag>Tag	p.Q26*	SLC4A8_ENST00000394856.1_5'UTR|SLC4A8_ENST00000514353.3_5'UTR|SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.Q53*|SLC4A8_ENST00000535225.2_5'UTR	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGTGGTGGATCAGGGTGGGAC	0.428																																						uc001rys.1		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(76-78)CAG>TAG		solute carrier family 4, sodium bicarbonate							136.0	119.0	124.0					12																	51834519		2203	4300	6503	SO:0001587	stop_gained	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51834519C>T	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.76C>T	12.37:g.51834519C>T	ENSP00000405812:p.Gln26*					SLC4A8_uc010sni.1_5'UTR|SLC4A8_uc001rym.2_5'UTR|SLC4A8_uc001ryn.2_5'UTR|SLC4A8_uc001ryo.2_5'UTR|SLC4A8_uc001ryp.1_5'UTR|SLC4A8_uc010snj.1_Nonsense_Mutation_p.Q53*|SLC4A8_uc001ryq.3_Nonsense_Mutation_p.Q26*|SLC4A8_uc001ryr.2_Nonsense_Mutation_p.Q26*|SLC4A8_uc010snk.1_5'UTR	p.Q26*	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	2	254	+			26			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000453097.2	37	c.76C>T	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	C	37	6.412154	0.97546	.	.	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000319957	.	.	.	4.94	4.94	0.65067	.	0.056047	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	17.4606	0.87619	0.0:1.0:0.0:0.0	.	.	.	.	X	53;26;26	.	ENSP00000315789:Q26X	Q	+	1	0	SLC4A8	50120786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.096000	0.71446	2.745000	0.94114	0.561000	0.74099	CAG		0.428	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		22	83	0	0	0	0	22	83				
MON2	23041	broad.mit.edu	37	12	62892803	62892803	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:62892803G>T	ENST00000393632.2	+	5	931	c.540G>T	c.(538-540)atG>atT	p.M180I	MON2_ENST00000546600.1_Missense_Mutation_p.M180I|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000280379.6_Missense_Mutation_p.M180I|MON2_ENST00000552115.1_Missense_Mutation_p.M180I|MON2_ENST00000552738.1_Missense_Mutation_p.M180I|MON2_ENST00000393630.3_Missense_Mutation_p.M180I|MON2_ENST00000393629.2_Missense_Mutation_p.M180I	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	180					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTGAGAGGATGGTTGCTGAAG	0.378																																						uc001sre.2		NA																	0				central_nervous_system(2)	2						c.(538-540)ATG>ATT		MON2 homolog							258.0	248.0	251.0					12																	62892803		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62892803G>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.540G>T	12.37:g.62892803G>T	ENSP00000377252:p.Met180Ile					MON2_uc009zqj.2_Missense_Mutation_p.M180I|MON2_uc010ssl.1_Missense_Mutation_p.M108I|MON2_uc010ssm.1_Missense_Mutation_p.M180I|MON2_uc010ssn.1_Missense_Mutation_p.M180I|MON2_uc001srf.2_5'Flank|MON2_uc001srd.1_Missense_Mutation_p.M72I	p.M180I	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	5	931	+			180					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.540G>T	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971504	0.74246	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.64803	0.34;-0.12;-0.12;0.35;0.35;-0.12;0.36	5.4	5.4	0.78164	.	0.033752	0.85682	D	0.000000	T	0.54240	0.1846	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B	0.11235	0.0;0.0;0.0;0.004;0.002	B;B;B;B;B	0.09377	0.0;0.001;0.004;0.002;0.001	T	0.47586	-0.9106	9	.	.	.	-16.1752	19.173	0.93588	0.0:0.0:1.0:0.0	.	180;180;180;180;180	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4;Q7Z3U7	.;.;.;.;MON2_HUMAN	I	180;180;180;180;108;180;180;180	ENSP00000377252:M180I;ENSP00000377250:M180I;ENSP00000280379:M180I;ENSP00000447407:M180I;ENSP00000449215:M180I;ENSP00000377249:M180I;ENSP00000446635:M180I	.	M	+	3	0	MON2	61179070	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.869000	0.99810	2.553000	0.86117	0.491000	0.48974	ATG		0.378	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		102	297	1	0	6.84e-50	9.22e-50	102	297				
C12orf66	144577	broad.mit.edu	37	12	64588097	64588097	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:64588097G>A	ENST00000398055.3	-	3	916	c.863C>T	c.(862-864)aCg>aTg	p.T288M	C12orf66_ENST00000544871.1_Missense_Mutation_p.T235M|C12orf66_ENST00000311915.8_Missense_Mutation_p.T288M	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	288										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						TGCTGTCAACGTTTTCATTTC	0.393																																						uc001srw.3		NA																	0				ovary(1)	1						c.(862-864)ACG>ATG		hypothetical protein LOC144577							94.0	87.0	89.0					12																	64588097		1839	4089	5928	SO:0001583	missense	144577							g.chr12:64588097G>A		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.863C>T	12.37:g.64588097G>A	ENSP00000381132:p.Thr288Met					C12orf66_uc009zql.2_Missense_Mutation_p.T235M	p.T288M	NM_152440	NP_689653	Q96MD2	CL066_HUMAN			3	922	-			288					C9JX54|Q8IYA0	Missense_Mutation	SNP	ENST00000398055.3	37	c.863C>T	CCDS41803.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471804	0.43942	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.33216	1.42;1.42;1.42	5.94	5.05	0.67936	.	0.472859	0.27084	N	0.021016	T	0.34542	0.0901	L	0.34521	1.04	0.24330	N	0.995007	B;P	0.34977	0.448;0.478	P;B	0.46172	0.506;0.372	T	0.25502	-1.0130	9	.	.	.	-0.4338	14.8816	0.70537	0.0683:0.0:0.9317:0.0	.	235;288	F5H2Q3;Q96MD2	.;CL066_HUMAN	M	288;235;288	ENSP00000311486:T288M;ENSP00000445481:T235M;ENSP00000381132:T288M	.	T	-	2	0	C12orf66	62874364	1.000000	0.71417	0.013000	0.15412	0.540000	0.34992	7.946000	0.87746	1.523000	0.49018	0.561000	0.74099	ACG		0.393	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440		49	161	0	0	0	0	49	161				
GRIP1	23426	broad.mit.edu	37	12	66788009	66788009	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:66788009G>C	ENST00000398016.3	-	16	2020	c.1952C>G	c.(1951-1953)aCt>aGt	p.T651S	GRIP1_ENST00000359742.4_Missense_Mutation_p.T703S|GRIP1_ENST00000542021.1_5'Flank|GRIP1_ENST00000286445.7_Missense_Mutation_p.T703S	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)		TCCCCCTTTAGTGAGGCTTGA	0.433																																						uc001stk.2		NA																	0				ovary(2)	2						c.(1951-1953)ACT>AGT		glutamate receptor interacting protein 1							126.0	123.0	124.0					12																	66788009		1830	4085	5915	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.chr12:66788009G>C	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.1952C>G	12.37:g.66788009G>C	ENSP00000381098:p.Thr651Ser					GRIP1_uc010sta.1_Missense_Mutation_p.T595S|GRIP1_uc001stj.2_Missense_Mutation_p.T433S|GRIP1_uc001stl.1_Missense_Mutation_p.T543S|GRIP1_uc001stm.2_Missense_Mutation_p.T651S	p.T651S	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	16	2193	-			703			PDZ 6.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.1952C>G	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.124472|4.124472	0.77436|0.77436	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.|T;T;T;T;T;T	.|0.25414	.|1.8;1.8;1.8;1.8;1.8;1.8	4.2|4.2	4.2|4.2	0.49525|0.49525	.|PDZ/DHR/GLGF (4);	.|0.145753	.|0.64402	.|D	.|0.000010	T|T	0.30978|0.30978	0.0782|0.0782	L|L	0.48218|0.48218	1.51|1.51	0.58432|0.58432	D|D	0.999995|0.999995	.|B;B;P;B	.|0.38800	.|0.434;0.08;0.648;0.254	.|B;B;B;B	.|0.44224	.|0.209;0.081;0.444;0.169	T|T	0.03503|0.03503	-1.1030|-1.1030	5|9	.|.	.|.	.|.	-18.3489|-18.3489	17.8456|17.8456	0.88729|0.88729	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|651;703;651;703	.|F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.|.;GRIP1_HUMAN;.;.	V|S	518|651;703;703;651;595;543	.|ENSP00000381098:T651S;ENSP00000352780:T703S;ENSP00000286445:T703S;ENSP00000446047:T651S;ENSP00000446024:T595S;ENSP00000446011:T543S	.|.	L|T	-|-	1|2	2|0	GRIP1|GRIP1	65074276|65074276	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	5.263000|5.263000	0.65507|0.65507	2.644000|2.644000	0.89710|0.89710	0.655000|0.655000	0.94253|0.94253	CTA|ACT		0.433	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			67	192	0	0	0	0	67	192				
TRHDE	29953	broad.mit.edu	37	12	73056937	73056937	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:73056937G>T	ENST00000261180.4	+	19	3133	c.3037G>T	c.(3037-3039)Gag>Tag	p.E1013*		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1013					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E1013Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTACCAAGACGAGCTTTTCCA	0.393																																						uc001sxa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3037-3039)GAG>TAG		thyrotropin-releasing hormone degrading enzyme							51.0	53.0	53.0					12																	73056937		2203	4300	6503	SO:0001587	stop_gained	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73056937G>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.3037G>T	12.37:g.73056937G>T	ENSP00000261180:p.Glu1013*						p.E1013*	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			19	3067	+			1013			Extracellular (Potential).		A5PL19|Q6UWJ4	Nonsense_Mutation	SNP	ENST00000261180.4	37	c.3037G>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	40	8.024272	0.98616	.	.	ENSG00000072657	ENST00000261180	.	.	.	5.59	5.59	0.84812	.	0.052265	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	19.956	0.97218	0.0:0.0:1.0:0.0	.	.	.	.	X	1013	.	ENSP00000261180:E1013X	E	+	1	0	TRHDE	71343204	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.386000	0.73186	2.788000	0.95919	0.557000	0.71058	GAG		0.393	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		21	65	1	0	4.4e-07	5.04e-07	21	65				
TRHDE	29953	broad.mit.edu	37	12	73056946	73056946	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:73056946C>A	ENST00000261180.4	+	19	3142	c.3046C>A	c.(3046-3048)Caa>Aaa	p.Q1016K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1016					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CGAGCTTTTCCAATGGTTAGG	0.398																																						uc001sxa.2		NA																	0				ovary(2)|skin(1)	3						c.(3046-3048)CAA>AAA		thyrotropin-releasing hormone degrading enzyme							46.0	48.0	47.0					12																	73056946		2202	4300	6502	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73056946C>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.3046C>A	12.37:g.73056946C>A	ENSP00000261180:p.Gln1016Lys						p.Q1016K	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			19	3076	+			1016			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.3046C>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493659	0.44352	.	.	ENSG00000072657	ENST00000261180	T	0.01252	5.1	5.59	5.59	0.84812	.	0.054514	0.85682	D	0.000000	T	0.01592	0.0051	N	0.24115	0.695	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.60727	-0.7206	10	0.09843	T	0.71	.	19.956	0.97218	0.0:1.0:0.0:0.0	.	1016	Q9UKU6	TRHDE_HUMAN	K	1016	ENSP00000261180:Q1016K	ENSP00000261180:Q1016K	Q	+	1	0	TRHDE	71343213	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.870000	0.75526	2.788000	0.95919	0.557000	0.71058	CAA		0.398	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		18	58	1	0	1.01e-13	1.24e-13	18	58				
NAV3	89795	broad.mit.edu	37	12	78593221	78593221	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:78593221G>T	ENST00000397909.2	+	37	6798	c.6625G>T	c.(6625-6627)Gac>Tac	p.D2209Y	NAV3_ENST00000266692.7_Missense_Mutation_p.D2010Y|NAV3_ENST00000228327.6_Missense_Mutation_p.D2187Y|NAV3_ENST00000536525.2_Missense_Mutation_p.D2187Y|NAV3_ENST00000541270.1_Missense_Mutation_p.D39Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2209						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCGCAATAATGACCTAGTCAA	0.368										HNSCC(70;0.22)																												uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(6625-6627)GAC>TAC		neuron navigator 3							113.0	111.0	112.0					12																	78593221		1845	4092	5937	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78593221G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6625G>T	12.37:g.78593221G>T	ENSP00000381007:p.Asp2209Tyr	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.D2187Y|NAV3_uc010sub.1_Missense_Mutation_p.D1666Y|NAV3_uc009zsf.2_Missense_Mutation_p.D1018Y	p.D2209Y	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			37	6798	+			2209					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6625G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.127010|5.127010	0.94429|0.94429	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000541270|ENST00000552895;ENST00000551162	T;T;T;T;T|.	0.47869|.	1.64;1.64;1.64;1.55;0.83|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.164206|.	0.27906|.	U|.	0.017380|.	T|.	0.72415|.	0.3457|.	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.996;0.992;0.999;0.999|.	P;P;P;D|.	0.63033|.	0.886;0.873;0.905;0.91|.	T|.	0.67110|.	-0.5753|.	10|.	0.87932|.	D|.	0|.	-22.5081|-22.5081	20.2245|20.2245	0.98337|0.98337	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2187;2010;2209;2187|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	Y|L	2187;2209;2187;2010;39|1081;76	ENSP00000446132:D2187Y;ENSP00000381007:D2209Y;ENSP00000228327:D2187Y;ENSP00000266692:D2010Y;ENSP00000444918:D39Y|.	ENSP00000228327:D2187Y|.	D|X	+|+	1|2	0|2	NAV3|NAV3	77117352|77117352	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.813000|9.813000	0.99286|0.99286	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	GAC|TGA		0.368	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		35	111	1	0	1.42e-22	1.84e-22	35	111				
TMTC3	160418	broad.mit.edu	37	12	88589095	88589095	+	Missense_Mutation	SNP	A	A	G	rs533472310		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:88589095A>G	ENST00000266712.6	+	14	2634	c.2414A>G	c.(2413-2415)gAa>gGa	p.E805G		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	806					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CCACATGAAGAATATATTCAG	0.348																																						uc001tau.2		NA																	0				skin(1)	1						c.(2413-2415)GAA>GGA		transmembrane and tetratricopeptide repeat							75.0	79.0	77.0					12																	88589095		2203	4298	6501	SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88589095A>G		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.2414A>G	12.37:g.88589095A>G	ENSP00000266712:p.Glu805Gly						p.E805G	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN			14	2634	+			806					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.2414A>G	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563011	0.86335	.	.	ENSG00000139324	ENST00000266712	T	0.64260	-0.09	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.74816	0.3766	M	0.69823	2.125	0.80722	D	1	D	0.58620	0.983	P	0.59424	0.857	T	0.73936	-0.3825	10	0.33940	T	0.23	-24.5049	15.9298	0.79651	1.0:0.0:0.0:0.0	.	805	Q6ZXV5-2	.	G	805	ENSP00000266712:E805G	ENSP00000266712:E805G	E	+	2	0	TMTC3	87113226	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.261000	0.95576	2.168000	0.68352	0.482000	0.46254	GAA		0.348	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		57	125	0	0	0	0	57	125				
CFAP54	144535	broad.mit.edu	37	12	97137303	97137303	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:97137303A>G	ENST00000524981.4	+	53	7366	c.7343A>G	c.(7342-7344)aAg>aGg	p.K2448R				Q96N23	CL055_HUMAN		0																	CTACAAGAAAAGCATTTAAAG	0.433																																						uc001tet.1		NA																	0				skin(6)|ovary(1)	7						c.(2617-2619)AAG>AGG		hypothetical protein LOC374467							100.0	95.0	97.0					12																	97137303		2203	4300	6503	SO:0001583	missense	374467							g.chr12:97137303A>G																												ENST00000524981.4:c.7343A>G	12.37:g.97137303A>G	ENSP00000431759:p.Lys2448Arg						p.K873R	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			20	2696	+			873						Missense_Mutation	SNP	ENST00000524981.4	37	c.2618A>G		.	.	.	.	.	.	.	.	.	.	A	11.83	1.754593	0.31046	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.72	4.59	0.56863	.	0.170574	0.41001	D	0.000980	T	0.17534	0.0421	N	0.25144	0.715	0.25091	N	0.990852	P	0.35155	0.487	B	0.30943	0.122	T	0.14643	-1.0465	9	0.08599	T	0.76	-15.4498	6.4638	0.21970	0.8258:0.0:0.1742:0.0	.	873	Q6ZTY8	CL063_HUMAN	R	2448;873	.	ENSP00000345466:K873R	K	+	2	0	C12orf63	95661434	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.157000	0.42320	2.180000	0.69256	0.459000	0.35465	AAG		0.433	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			3	135	0	0	0	0	3	135				
ANKS1B	56899	broad.mit.edu	37	12	99194841	99194842	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:99194841_99194842GG>TT	ENST00000547776.2	-	20	3127_3128	c.3128_3129CC>AA	c.(3127-3129)aCC>aAA	p.T1043K	ANKS1B_ENST00000547010.1_Missense_Mutation_p.T559K|ANKS1B_ENST00000549558.2_Missense_Mutation_p.T209K|ANKS1B_ENST00000549493.2_Missense_Mutation_p.T293K|ANKS1B_ENST00000550693.2_Missense_Mutation_p.T233K|ANKS1B_ENST00000341752.7_Missense_Mutation_p.T49K|ANKS1B_ENST00000329257.7_Missense_Mutation_p.T1043K|ANKS1B_ENST00000549025.2_Missense_Mutation_p.T141K|ANKS1B_ENST00000332712.7_Missense_Mutation_p.T233K|ANKS1B_ENST00000546568.1_Missense_Mutation_p.T209K|ANKS1B_ENST00000333732.7_Missense_Mutation_p.T73K|ANKS1B_ENST00000547446.1_Missense_Mutation_p.T178K|ANKS1B_ENST00000546960.1_Missense_Mutation_p.T269K	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1043						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ACTGTACCGGGGTAGAGGCTGT	0.46																																						uc001tge.1		NA																	0					0						c.(3127-3129)ACC>AAA		cajalin 2 isoform a																																				SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99194841_99194842GG>TT	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.3128_3129delinsTT	12.37:g.99194841_99194842delinsTT	ENSP00000449629:p.Thr1043Lys					ANKS1B_uc001tgf.1_Missense_Mutation_p.T559K|ANKS1B_uc001tgk.2_Missense_Mutation_p.T340K|ANKS1B_uc010svd.1_Missense_Mutation_p.T49K|ANKS1B_uc001tgd.1_Missense_Mutation_p.T209K|ANKS1B_uc009ztq.2_5'UTR|ANKS1B_uc010sve.1_Missense_Mutation_p.T73K|ANKS1B_uc001tgh.3_Missense_Mutation_p.T49K|ANKS1B_uc001tgi.2_Missense_Mutation_p.T293K|ANKS1B_uc009ztr.2_Missense_Mutation_p.T233K|ANKS1B_uc001tgj.2_Missense_Mutation_p.T209K|ANKS1B_uc009ztp.2_Missense_Mutation_p.T74K|ANKS1B_uc010svf.1_Missense_Mutation_p.T73K|ANKS1B_uc001tgg.3_Missense_Mutation_p.T141K|ANKS1B_uc010svg.1_Missense_Mutation_p.T178K|ANKS1B_uc009zts.1_Missense_Mutation_p.T269K	p.T1043K	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	20	3545_3546	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	1043					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	DNP	ENST00000547776.2	37	c.3128_3129CC>AA	CCDS55872.1																																																																																				0.460	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		7	14	0	0	0	0	7	14				
MYBPC1	4604	broad.mit.edu	37	12	102043145	102043145	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:102043145C>A	ENST00000550270.1	+	13	1229	c.1229C>A	c.(1228-1230)gCt>gAt	p.A410D	RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000547405.1_Missense_Mutation_p.A384D|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000553190.1_Missense_Mutation_p.A410D|MYBPC1_ENST00000361685.2_Missense_Mutation_p.A435D|MYBPC1_ENST00000392934.3_Missense_Mutation_p.A397D|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547509.1_Missense_Mutation_p.A396D|MYBPC1_ENST00000549145.1_Missense_Mutation_p.A423D|MYBPC1_ENST00000441232.1_Missense_Mutation_p.A410D|MYBPC1_ENST00000360610.2_Missense_Mutation_p.A410D|MYBPC1_ENST00000536007.1_Missense_Mutation_p.A391D|MYBPC1_ENST00000541119.1_Missense_Mutation_p.A398D|MYBPC1_ENST00000361466.2_Missense_Mutation_p.A435D|MYBPC1_ENST00000452455.2_Missense_Mutation_p.A410D|MYBPC1_ENST00000545503.2_Missense_Mutation_p.A410D|MYBPC1_ENST00000551300.1_Missense_Mutation_p.A311D			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	410	Ig-like C2-type 3.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AAGGCTGATGCTGCAGAATAT	0.393																																						uc001tii.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(1228-1230)GCT>GAT		myosin binding protein C, slow type isoform 3							192.0	174.0	180.0					12																	102043145		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102043145C>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1229C>A	12.37:g.102043145C>A	ENSP00000449702:p.Ala410Asp					MYBPC1_uc001tif.1_Missense_Mutation_p.A423D|MYBPC1_uc001tig.2_Missense_Mutation_p.A435D|MYBPC1_uc010svq.1_Missense_Mutation_p.A397D|MYBPC1_uc001tih.2_Missense_Mutation_p.A435D|MYBPC1_uc001tij.2_Missense_Mutation_p.A410D|MYBPC1_uc010svr.1_Missense_Mutation_p.A410D|MYBPC1_uc010svs.1_Missense_Mutation_p.A410D|MYBPC1_uc010svt.1_Missense_Mutation_p.A398D|MYBPC1_uc010svu.1_Missense_Mutation_p.A391D|MYBPC1_uc001tik.2_Missense_Mutation_p.A384D	p.A410D	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			13	1331	+			410			Ig-like C2-type 3.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.1229C>A	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	C	7.275	0.607975	0.14002	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.98	-2.58	0.06228	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.660490	0.03710	N	0.250087	T	0.57695	0.2071	L	0.31294	0.92	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.21821	0.036;0.002;0.046;0.001;0.001;0.01;0.0;0.01;0.061;0.0;0.008	B;B;B;B;B;B;B;B;B;B;B	0.32928	0.155;0.012;0.063;0.012;0.016;0.099;0.009;0.063;0.056;0.009;0.02	T	0.55592	-0.8117	10	0.56958	D	0.05	.	8.5105	0.33215	0.1392:0.366:0.4326:0.0622	.	391;398;410;410;397;384;410;410;435;435;423	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	D	384;410;410;410;397;396;435;423;410;435;410;391;398;435;311;410	ENSP00000448175:A384D;ENSP00000400908:A410D;ENSP00000388989:A410D;ENSP00000353822:A410D;ENSP00000376665:A397D;ENSP00000447362:A396D;ENSP00000354845:A435D;ENSP00000447660:A423D;ENSP00000447900:A410D;ENSP00000440034:A410D;ENSP00000446128:A391D;ENSP00000442847:A398D;ENSP00000354849:A435D;ENSP00000447116:A311D;ENSP00000449702:A410D	ENSP00000353822:A410D	A	+	2	0	MYBPC1	100567276	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-0.420000	0.07062	-0.098000	0.12285	0.591000	0.81541	GCT		0.393	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			26	176	1	0	1.56e-22	2.03e-22	26	176				
CUX2	23316	broad.mit.edu	37	12	111747976	111747976	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:111747976C>A	ENST00000261726.6	+	15	1544	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	464	Pro-rich.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCAGCCCCTGCTGGGCCCCAG	0.687																																						uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(1390-1392)CTG>ATG		cut-like 2							15.0	18.0	17.0					12																	111747976		1881	4099	5980	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111747976C>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1390C>A	12.37:g.111747976C>A	ENSP00000261726:p.Leu464Met						p.L464M	NM_015267	NP_056082	O14529	CUX2_HUMAN			15	1543	+			464			Pro-rich.		A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.1390C>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	6.266	0.417187	0.11870	.	.	ENSG00000111249	ENST00000261726	T	0.53640	0.61	5.02	1.94	0.25998	.	0.470207	0.22641	N	0.057446	T	0.28001	0.0690	N	0.16478	0.41	0.25861	N	0.983823	B	0.16166	0.016	B	0.18561	0.022	T	0.15321	-1.0441	10	0.33141	T	0.24	-10.9976	8.2156	0.31509	0.2784:0.6471:0.0:0.0746	.	464	O14529	CUX2_HUMAN	M	464	ENSP00000261726:L464M	ENSP00000261726:L464M	L	+	1	2	CUX2	110232359	0.981000	0.34729	0.996000	0.52242	0.240000	0.25518	0.545000	0.23268	0.498000	0.27948	0.313000	0.20887	CTG		0.687	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		7	18	1	0	0.000274275	0.000294007	7	18				
TPCN1	53373	broad.mit.edu	37	12	113730845	113730845	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:113730845G>T	ENST00000335509.6	+	26	2534	c.2220G>T	c.(2218-2220)ctG>ctT	p.L740L	TPCN1_ENST00000541517.1_Silent_p.L812L|TPCN1_ENST00000550785.1_Silent_p.L812L|TPCN1_ENST00000392569.4_Silent_p.L672L|TPCN1_ENST00000546787.1_3'UTR	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	740					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCACCAGGCTGCTGGAGACCC	0.612																																						uc001tuw.2		NA																	0				skin(2)|ovary(1)	3						c.(2218-2220)CTG>CTT		two pore segment channel 1 isoform 2							29.0	32.0	31.0					12																	113730845		2203	4300	6503	SO:0001819	synonymous_variant	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113730845G>T	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.2220G>T	12.37:g.113730845G>T						TPCN1_uc001tux.2_Silent_p.L812L|TPCN1_uc010syu.1_5'Flank	p.L740L	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN			26	2517	+			740			Cytoplasmic (Potential).		A7E258|Q86XS9|Q8NC20	Silent	SNP	ENST00000335509.6	37	c.2220G>T	CCDS31908.1																																																																																				0.612	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		12	40	1	0	5.51e-06	6.16e-06	12	40				
COX6A1	1337	broad.mit.edu	37	12	120876216	120876216	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:120876216G>T	ENST00000229379.2	+	2	175	c.138G>T	c.(136-138)gcG>gcT	p.A46A	AL021546.6_ENST00000551806.1_Missense_Mutation_p.A23S	NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	46					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTTCGTCGCGCTCCCCGGGG	0.627																																						uc001tyf.1		NA																	0					0						c.(136-138)GCG>GCT		cytochrome c oxidase subunit VIa polypeptide 1							58.0	53.0	55.0					12																	120876216		2203	4300	6503	SO:0001819	synonymous_variant	1337				respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity	g.chr12:120876216G>T	X15341	CCDS9197.1	12q24	2011-07-04			ENSG00000111775	ENSG00000111775	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2277	protein-coding gene	gene with protein product		602072		COX6A		9284905	Standard	NM_004373		Approved		uc001tyf.2	P12074	OTTHUMG00000047791	ENST00000229379.2:c.138G>T	12.37:g.120876216G>T							p.A46A	NM_004373	NP_004364	P12074	CX6A1_HUMAN			2	164	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		46					B2R500|O43714|Q32Q37	Silent	SNP	ENST00000229379.2	37	c.138G>T	CCDS9197.1	.	.	.	.	.	.	.	.	.	.	G	4.737	0.137025	0.09032	.	.	ENSG00000111780	ENST00000551806	.	.	.	5.13	0.739	0.18324	.	0.000000	0.85682	D	0.000000	T	0.63236	0.2494	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63404	-0.6645	6	0.62326	D	0.03	-8.6732	9.6405	0.39835	0.0:0.3387:0.3178:0.3435	.	.	.	.	S	23	.	ENSP00000450281:A23S	A	+	1	0	GATC	119360599	0.585000	0.26774	0.998000	0.56505	0.035000	0.12851	-0.280000	0.08468	0.227000	0.20999	-0.176000	0.13171	GCT		0.627	COX6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108984.3	NM_004373		38	100	1	0	2.76e-19	3.53e-19	38	100				
TMEM132D	121256	broad.mit.edu	37	12	130184858	130184858	+	Missense_Mutation	SNP	G	G	T	rs372489586		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:130184858G>T	ENST00000422113.2	-	2	791	c.465C>A	c.(463-465)gaC>gaA	p.D155E	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	155					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGTCGTCCCAGTCTCTGCCCA	0.602																																						uc009zyl.1		NA																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(463-465)GAC>GAA		transmembrane protein 132D precursor		G	GLU/ASP	1,4405	2.1+/-5.4	0,1,2202	29.0	29.0	29.0		465	2.4	1.0	12		29	0,8600		0,0,4300	no	missense	TMEM132D	NM_133448.2	45	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	155/1100	130184858	1,13005	2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184858G>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.465C>A	12.37:g.130184858G>T	ENSP00000408581:p.Asp155Glu						p.D155E	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	793	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	155			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.465C>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285575	0.59867	2.27E-4	0.0	ENSG00000151952	ENST00000422113	T	0.14893	2.47	5.33	2.41	0.29592	.	0.171278	0.38605	N	0.001623	T	0.22936	0.0554	M	0.86420	2.815	0.38732	D	0.953691	B	0.27997	0.197	B	0.28465	0.09	T	0.07309	-1.0779	9	.	.	.	-28.3574	8.3358	0.32213	0.1211:0.0:0.7471:0.1317	.	155	Q14C87	T132D_HUMAN	E	155	ENSP00000408581:D155E	.	D	-	3	2	TMEM132D	128750811	1.000000	0.71417	0.990000	0.47175	0.326000	0.28443	4.394000	0.59671	1.186000	0.42985	0.555000	0.69702	GAC		0.602	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		15	28	1	0	1.05e-09	1.25e-09	15	28				
PXMP2	5827	broad.mit.edu	37	12	133266848	133266848	+	Splice_Site	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:133266848G>A	ENST00000317479.3	+	2	187		c.e2-1		RP13-672B3.2_ENST00000537262.1_Splice_Site|PXMP2_ENST00000543589.1_Splice_Site|PXMP2_ENST00000428960.2_5'Flank|POLE_ENST00000535270.1_5'Flank|POLE_ENST00000320574.5_5'Flank|PXMP2_ENST00000545677.1_Splice_Site|PXMP2_ENST00000539093.1_5'UTR	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CCTCTCCACAGTGGCATTTTG	0.517																																						uc001ukt.2		NA																	0					0						c.e2-1		peroxisomal membrane protein 2, 22kDa							115.0	106.0	109.0					12																	133266848		2203	4300	6503	SO:0001630	splice_region_variant	5827					integral to membrane|peroxisomal membrane	protein binding	g.chr12:133266848G>A		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.123-1G>A	12.37:g.133266848G>A						POLE_uc001uks.1_5'Flank|POLE_uc010tbq.1_5'Flank|POLE_uc009zyu.1_5'Flank|PGAM5_uc010tbr.1_Splice_Site	p.S41_splice	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)	2	188	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)								Splice_Site	SNP	ENST00000317479.3	37	c.123_splice	CCDS9279.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014669	0.54468	.	.	ENSG00000176894	ENST00000317479;ENST00000543589	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6233	0.76829	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PXMP2	131776921	1.000000	0.71417	0.996000	0.52242	0.805000	0.45488	6.572000	0.74005	2.283000	0.76528	0.462000	0.41574	.		0.517	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663	Intron	38	113	0	0	0	0	38	113				
ATP12A	479	broad.mit.edu	37	13	25265203	25265203	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr13:25265203G>T	ENST00000381946.3	+	8	1050	c.883G>T	c.(883-885)Gag>Tag	p.E295*	ATP12A_ENST00000218548.6_Nonsense_Mutation_p.E301*			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	295					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		AGTTGGAAATGAGAAGACGCC	0.517																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(883-885)GAG>TAG		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						184.0	154.0	164.0					13																	25265203		2203	4300	6503	SO:0001587	stop_gained	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25265203G>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.883G>T	13.37:g.25265203G>T	ENSP00000371372:p.Glu295*					ATP12A_uc010aaa.2_Nonsense_Mutation_p.E301*	p.E295*	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	8	1070	+		Lung SC(185;0.0225)|Breast(139;0.077)	295			Cytoplasmic (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Nonsense_Mutation	SNP	ENST00000381946.3	37	c.883G>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	38	7.117287	0.98074	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	.	.	.	5.02	3.23	0.37069	.	0.232548	0.36932	N	0.002334	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	9.6473	0.39875	0.0:0.1468:0.6837:0.1695	.	.	.	.	X	301;295	.	ENSP00000218548:E301X	E	+	1	0	ATP12A	24163203	0.973000	0.33851	0.338000	0.25549	0.510000	0.34073	1.851000	0.39338	0.643000	0.30638	0.462000	0.41574	GAG		0.517	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		36	76	1	0	2.76e-19	3.53e-19	36	76				
CCNA1	8900	broad.mit.edu	37	13	37015288	37015288	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr13:37015288C>G	ENST00000255465.4	+	7	1396	c.1132C>G	c.(1132-1134)Cca>Gca	p.P378A	CCNA1_ENST00000418263.1_Missense_Mutation_p.P377A|CCNA1_ENST00000449823.1_Missense_Mutation_p.P334A|CCNA1_ENST00000440264.1_Missense_Mutation_p.P334A			P78396	CCNA1_HUMAN	cyclin A1	378					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		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;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TGAAGCAGATCCATTCTTGAA	0.398																																						uc001uvr.3		NA																	0				lung(2)|skin(2)|ovary(1)	5						c.(1132-1134)CCA>GCA		cyclin A1 isoform a							165.0	141.0	149.0					13																	37015288		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37015288C>G	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1132C>G	13.37:g.37015288C>G	ENSP00000255465:p.Pro378Ala					CCNA1_uc010teo.1_Missense_Mutation_p.P334A|CCNA1_uc010abq.2_Missense_Mutation_p.P334A|CCNA1_uc010abp.2_Missense_Mutation_p.P334A|CCNA1_uc001uvs.3_Missense_Mutation_p.P377A|CCNA1_uc010abr.2_RNA	p.P378A	NM_003914	NP_003905	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	7	1482	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	378					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.1132C>G	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548365	0.65311	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.14391	2.53;2.53;2.51;2.51	5.39	4.54	0.55810	Cyclin, C-terminal (1);Cyclin-like (3);	0.106709	0.64402	D	0.000005	T	0.26991	0.0661	M	0.71920	2.185	0.54753	D	0.999989	P;P	0.51351	0.905;0.944	P;P	0.51193	0.55;0.662	T	0.03060	-1.1077	10	0.52906	T	0.07	.	14.3263	0.66523	0.0:0.9279:0.0:0.0721	.	377;378	P78396-2;P78396	.;CCNA1_HUMAN	A	334;334;377;378	ENSP00000400666:P334A;ENSP00000409873:P334A;ENSP00000396479:P377A;ENSP00000255465:P378A	ENSP00000255465:P378A	P	+	1	0	CCNA1	35913288	0.998000	0.40836	0.996000	0.52242	0.743000	0.42351	3.712000	0.54875	1.393000	0.46605	0.563000	0.77884	CCA		0.398	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		41	70	0	0	0	0	41	70				
ZIC2	7546	broad.mit.edu	37	13	100637292	100637292	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr13:100637292G>A	ENST00000376335.3	+	2	1461	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	390					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D390Y(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCACACCTCCGATAAGCCCTA	0.627																																					Pancreas(97;119 1522 31925 44771 48764)	uc001von.2		NA																	1	Substitution - Missense(1)		stomach(1)		0						c.(1168-1170)GAT>AAT		zinc finger protein of the cerebellum 2							147.0	121.0	129.0					13																	100637292		2203	4300	6503	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100637292G>A	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1168G>A	13.37:g.100637292G>A	ENSP00000365514:p.Asp390Asn						p.D390N	NM_007129	NP_009060	O95409	ZIC2_HUMAN			2	1168	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		390					Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.1168G>A	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	G	35	5.480031	0.96307	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	T	0.07327	3.2	4.19	4.19	0.49359	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.13713	0.0332	N	0.11870	0.19	0.80722	D	1	D	0.71674	0.998	D	0.67103	0.949	T	0.23904	-1.0175	10	0.87932	D	0	.	15.7914	0.78367	0.0:0.0:1.0:0.0	.	390	O95409	ZIC2_HUMAN	N	390;139	ENSP00000365514:D390N	ENSP00000365514:D390N	D	+	1	0	ZIC2	99435293	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	9.526000	0.98042	2.299000	0.77371	0.655000	0.94253	GAT		0.627	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		47	48	0	0	0	0	47	48				
OR11H12	440153	broad.mit.edu	37	14	19377681	19377681	+	Missense_Mutation	SNP	C	C	A	rs376617469		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:19377681C>A	ENST00000550708.1	+	1	160	c.88C>A	c.(88-90)Caa>Aaa	p.Q30K		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTATACTCCAAGGTTTCAC	0.413																																						uc010tkp.1		NA																	0				ovary(2)	2						c.(88-90)CAA>AAA		olfactory receptor, family 11, subfamily H,							50.0	52.0	52.0					14																	19377681		2199	4296	6495	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19377681C>A		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.88C>A	14.37:g.19377681C>A	ENSP00000449002:p.Gln30Lys						p.Q30K	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	88	+	all_cancers(95;0.00108)		30			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000550708.1	37	c.88C>A	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	c	4.966	0.179383	0.09443	.	.	ENSG00000257115	ENST00000550708	T	0.00428	7.44	.	.	.	.	0.262380	0.19287	U	0.118013	T	0.00241	0.0007	N	0.20445	0.575	0.22562	N	0.998985	B	0.18166	0.026	B	0.24541	0.054	T	0.21552	-1.0242	8	0.87932	D	0	.	6.4784	0.22049	0.0:0.9998:0.0:2.0E-4	.	30	B2RN74	O11HC_HUMAN	K	30	ENSP00000449002:Q30K	ENSP00000449002:Q30K	Q	+	1	0	CR383656.1	18447681	0.000000	0.05858	0.033000	0.17914	0.064000	0.16182	-2.266000	0.01171	0.413000	0.25759	0.064000	0.15345	CAA		0.413	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		70	187	1	0	7.07e-35	9.4e-35	70	187				
POTEG	404785	broad.mit.edu	37	14	19553736	19553736	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:19553736C>A	ENST00000409832.3	+	1	372	c.320C>A	c.(319-321)cCc>cAc	p.P107H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	107										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CACTGCTTCCCCTGCTGCAGG	0.602																																						uc001vuz.1		NA																	0				ovary(1)	1						c.(319-321)CCC>CAC		POTE ankyrin domain family, member G							198.0	221.0	213.0					14																	19553736		2196	4295	6491	SO:0001583	missense	404785							g.chr14:19553736C>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.320C>A	14.37:g.19553736C>A	ENSP00000386971:p.Pro107His					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.P107H	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	372	+			107					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.320C>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	c	10.16	1.273673	0.23221	.	.	ENSG00000222036	ENST00000409832	T	0.29142	1.58	0.568	-0.544	0.11847	.	.	.	.	.	T	0.35508	0.0934	L	0.59436	1.845	0.09310	N	1	P	0.52316	0.952	P	0.51833	0.681	T	0.21655	-1.0239	8	0.72032	D	0.01	.	.	.	.	.	107	Q6S5H5	POTEG_HUMAN	H	107	ENSP00000386971:P107H	ENSP00000386971:P107H	P	+	2	0	POTEG	18623736	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.239000	0.18023	-0.280000	0.09154	0.409000	0.27619	CCC		0.602	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		23	589	1	0	3.04e-20	3.92e-20	23	589				
OR4L1	122742	broad.mit.edu	37	14	20528872	20528872	+	Silent	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:20528872C>A	ENST00000315683.1	+	1	669	c.669C>A	c.(667-669)gtC>gtA	p.V223V		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCATCCTGGTCAGTGTACCAA	0.438																																						uc001vwn.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(667-669)GTC>GTA		olfactory receptor, family 4, subfamily L,							205.0	190.0	195.0					14																	20528872		2203	4300	6503	SO:0001819	synonymous_variant	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528872C>A		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.669C>A	14.37:g.20528872C>A							p.V223V	NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	669	+	all_cancers(95;0.00108)		223			Cytoplasmic (Potential).		Q6IEZ5	Silent	SNP	ENST00000315683.1	37	c.669C>A	CCDS32029.1																																																																																				0.438	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			58	180	1	0	2.42e-19	3.1e-19	58	180				
CHD8	57680	broad.mit.edu	37	14	21863125	21863125	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:21863125C>A	ENST00000557364.1	-	30	5599	c.5336G>T	c.(5335-5337)cGt>cTt	p.R1779L	SNORD8_ENST00000363915.1_RNA|SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000399982.2_Missense_Mutation_p.R1779L|CHD8_ENST00000430710.3_Missense_Mutation_p.R1500L			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1779					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGCTTCACAACGCCGCCTTCG	0.498																																						uc001was.1		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(4498-4500)CGT>CTT		chromodomain helicase DNA binding protein 8							52.0	51.0	52.0					14																	21863125		1917	4133	6050	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21863125C>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.5336G>T	14.37:g.21863125C>A	ENSP00000451601:p.Arg1779Leu					CHD8_uc001war.1_Missense_Mutation_p.R1396L|SNORD9_uc001wat.1_5'Flank	p.R1500L	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	30	4593	-	all_cancers(95;0.00121)		1779					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.4499G>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806664	0.70682	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.79352	-1.26;-1.26;-1.26	6.07	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.78432	0.4282	L	0.55103	1.725	0.52501	D	0.999959	P	0.46220	0.874	P	0.49451	0.611	T	0.72750	-0.4199	10	0.16896	T	0.51	-15.3034	15.8312	0.78752	0.0:0.8638:0.1362:0.0	.	1500	Q9HCK8-2	.	L	1500;1779;1499;1779	ENSP00000406288:R1500L;ENSP00000382863:R1779L;ENSP00000451601:R1779L	ENSP00000262707:R1499L	R	-	2	0	CHD8	20932965	0.976000	0.34144	1.000000	0.80357	0.992000	0.81027	2.468000	0.45102	2.885000	0.99019	0.655000	0.94253	CGT		0.498	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		30	55	1	0	3.99e-17	5.05e-17	30	55				
CMTM5	116173	broad.mit.edu	37	14	23846490	23846490	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:23846490G>A	ENST00000339180.4	+	1	246	c.30G>A	c.(28-30)cgG>cgA	p.R10R	CMTM5_ENST00000555731.1_Silent_p.R10R|CMTM5_ENST00000342473.4_Silent_p.R10R|CMTM5_ENST00000359320.3_Silent_p.R10R|CMTM5_ENST00000382809.2_Silent_p.R10R|CMTM5_ENST00000397227.3_Silent_p.R10R			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	10					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GCCGGGACCGGCACCCTGAGG	0.602																																						uc010akm.2		NA																	0					0						c.(28-30)CGG>CGA		chemokine-like factor superfamily 5 isoform a							72.0	76.0	74.0					14																	23846490		2203	4300	6503	SO:0001819	synonymous_variant	116173				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr14:23846490G>A	BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"""chemokine-like factor super family 5"", ""chemokine-like factor superfamily 5"""	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.30G>A	14.37:g.23846490G>A						CMTM5_uc001wjs.2_Silent_p.R10R|CMTM5_uc001wjt.2_Silent_p.R10R|CMTM5_uc010akn.2_Silent_p.R10R|CMTM5_uc001wju.2_Silent_p.R10R|CMTM5_uc010ako.2_RNA	p.R10R	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)	1	474	+	all_cancers(95;2e-05)		10					E9PH91|Q5PY48	Silent	SNP	ENST00000339180.4	37	c.30G>A																																																																																					0.602	CMTM5-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000133708.2			4	161	0	0	0	0	4	161				
MIPOL1	145282	broad.mit.edu	37	14	37777652	37777652	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:37777652G>A	ENST00000327441.7	+	10	1222	c.756G>A	c.(754-756)aaG>aaA	p.K252K	MIPOL1_ENST00000536774.1_Silent_p.K71K|MIPOL1_ENST00000539062.2_Silent_p.K221K|MIPOL1_ENST00000537471.1_Silent_p.K252K|MIPOL1_ENST00000556451.1_Silent_p.K221K|MIPOL1_ENST00000545536.1_Silent_p.K221K|MIPOL1_ENST00000396294.2_Silent_p.K252K	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	252						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		ACAAGACCAAGGAATGTAAAA	0.368																																						uc001wuc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(754-756)AAG>AAA		mirror-image polydactyly 1							123.0	125.0	124.0					14																	37777652		2203	4300	6503	SO:0001819	synonymous_variant	145282							g.chr14:37777652G>A	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.756G>A	14.37:g.37777652G>A						MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Silent_p.K221K|MIPOL1_uc001wud.2_Silent_p.K252K|MIPOL1_uc010ams.2_Silent_p.K252K|MIPOL1_uc001wue.2_Silent_p.K221K|MIPOL1_uc010amt.2_Silent_p.K71K	p.K252K	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	10	1259	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		252					D3DSA4|Q7Z3J0|Q8IV14	Silent	SNP	ENST00000327441.7	37	c.756G>A	CCDS9664.1																																																																																				0.368	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		46	138	0	0	0	0	46	138				
KTN1	3895	broad.mit.edu	37	14	56114744	56114744	+	Splice_Site	SNP	A	A	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:56114744A>C	ENST00000395314.3	+	20	2277	c.2209A>C	c.(2209-2211)Att>Ctt	p.I737L	KTN1_ENST00000395309.3_Splice_Site_p.I737L|KTN1_ENST00000395311.1_Splice_Site_p.I737L|KTN1_ENST00000413890.2_Splice_Site_p.I737L|KTN1_ENST00000554507.1_Splice_Site_p.I32L|KTN1_ENST00000416613.1_Splice_Site_p.I737L|KTN1_ENST00000438792.2_Splice_Site_p.I737L|KTN1_ENST00000395308.1_Splice_Site_p.I737L	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	737					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TAATTTCAGCATTCAAGAAAA	0.279			T	RET	papillary thryoid																																	uc001xcb.2		NA		Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						c.(2209-2211)ATT>CTT		kinectin 1 isoform a							54.0	57.0	56.0					14																	56114744		2203	4298	6501	SO:0001630	splice_region_variant	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56114744A>C		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.2208-1A>C	14.37:g.56114744A>C						KTN1_uc001xce.2_Missense_Mutation_p.I737L|KTN1_uc001xcc.2_Missense_Mutation_p.I737L|KTN1_uc001xcd.2_Missense_Mutation_p.I737L|KTN1_uc010trb.1_Missense_Mutation_p.I737L|KTN1_uc001xcf.1_Missense_Mutation_p.I737L|KTN1_uc010aoq.2_Missense_Mutation_p.I32L	p.I737L	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN			21	2511	+			737			Lumenal (Potential).|Potential.		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.2209A>C	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.950660	0.34377	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507;ENST00000554890	T;T;T;T;T;T;T;T	0.49720	1.56;1.41;1.49;1.41;1.56;1.56;1.41;0.77	5.6	4.43	0.53597	.	0.234359	0.29838	N	0.011080	T	0.55705	0.1937	L	0.50333	1.59	0.29430	N	0.859902	B;P;D;B;B	0.59357	0.164;0.602;0.985;0.02;0.25	B;B;D;B;B	0.72075	0.131;0.396;0.976;0.053;0.131	T	0.51505	-0.8697	10	0.02654	T	1	-9.226	12.7067	0.57063	0.8622:0.1378:0.0:0.0	.	737;32;737;737;737	B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;.;KTN1_HUMAN	L	737;737;737;737;737;737;737;32;32	ENSP00000394992:I737L;ENSP00000378720:I737L;ENSP00000391964:I737L;ENSP00000378725:I737L;ENSP00000378719:I737L;ENSP00000378722:I737L;ENSP00000388807:I737L;ENSP00000452073:I32L	ENSP00000378719:I737L	I	+	1	0	KTN1	55184497	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.683000	0.46943	0.923000	0.37045	0.477000	0.44152	ATT		0.279	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2		Missense_Mutation	10	63	0	0	0	0	10	63				
SYNE2	23224	broad.mit.edu	37	14	64630120	64630120	+	Splice_Site	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:64630120G>C	ENST00000344113.4	+	89	16512	c.16300G>C	c.(16300-16302)Gag>Cag	p.E5434Q	SYNE2_ENST00000554584.1_Splice_Site_p.E5351Q|SYNE2_ENST00000394768.2_Splice_Site_p.E1819Q|SYNE2_ENST00000357395.3_Splice_Site_p.E1819Q|SYNE2_ENST00000555002.1_Splice_Site_p.E2068Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Splice_Site_p.E5434Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5434					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.E5434Q(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTTCTGCAGGAGCTGCAGCA	0.493																																						uc001xgm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(16300-16302)GAG>CAG		spectrin repeat containing, nuclear envelope 2							60.0	63.0	62.0					14																	64630120		2203	4300	6503	SO:0001630	splice_region_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64630120G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.16300-1G>C	14.37:g.64630120G>C						SYNE2_uc001xgl.2_Missense_Mutation_p.E5434Q|SYNE2_uc010apy.2_Missense_Mutation_p.E1819Q|SYNE2_uc001xgn.2_Missense_Mutation_p.E396Q|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR	p.E5434Q	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	89	16530	+			5434			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.16300G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860556	0.71834	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.58652	0.76;4.06;0.76;0.32;4.11;4.06	6.07	5.01	0.66863	.	0.219310	0.31784	N	0.007061	T	0.62024	0.2394	L	0.59436	1.845	0.80722	D	1	P;P;P;P	0.47034	0.889;0.763;0.682;0.787	P;P;B;P	0.53450	0.726;0.447;0.184;0.544	T	0.60094	-0.7330	9	.	.	.	.	8.2489	0.31706	0.1561:0.0:0.8439:0.0	.	1819;5351;5434;5434	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	Q	5434;1819;5434;5351;5357;2068;1819	ENSP00000350719:E5434Q;ENSP00000349969:E1819Q;ENSP00000341781:E5434Q;ENSP00000452570:E5351Q;ENSP00000450831:E2068Q;ENSP00000378249:E1819Q	.	E	+	1	0	SYNE2	63699873	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	3.200000	0.51051	2.885000	0.99019	0.650000	0.86243	GAG		0.493	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	Missense_Mutation	25	86	0	0	0	0	25	86				
LRRC74A	145497	broad.mit.edu	37	14	77327047	77327047	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:77327047G>T	ENST00000393774.3	+	11	1240	c.1116G>T	c.(1114-1116)gtG>gtT	p.V372V		NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		ACGTGCTGGTGTCCGAGCAGT	0.577																																					Ovarian(165;1056 1958 32571 36789 48728)	uc001xsx.2		NA																	0					0						c.(1114-1116)GTG>GTT		hypothetical protein LOC145497							100.0	104.0	103.0					14																	77327047		2101	4209	6310	SO:0001819	synonymous_variant	145497							g.chr14:77327047G>T																												ENST00000393774.3:c.1116G>T	14.37:g.77327047G>T						C14orf166B_uc010asn.1_Silent_p.V132V|C14orf166B_uc001xsw.2_RNA	p.V372V	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	11	1230	+			372						Silent	SNP	ENST00000393774.3	37	c.1116G>T	CCDS9853.2																																																																																				0.577	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			16	73	1	0	1.03e-11	1.24e-11	16	73				
PRIMA1	145270	broad.mit.edu	37	14	94187810	94187810	+	Missense_Mutation	SNP	C	C	T	rs140016687		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:94187810C>T	ENST00000393140.1	-	5	544	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	PRIMA1_ENST00000393143.1_Missense_Mutation_p.V148M|PRIMA1_ENST00000316227.3_3'UTR	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	148					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GCGTTGTTCACGTCTACTCCT	0.572																																						uc001ybw.1		NA																	0				large_intestine(1)|skin(1)	2						c.(442-444)GTG>ATG		proline rich membrane anchor 1 precursor		C	MET/VAL	0,4406		0,0,2203	137.0	96.0	110.0		442	4.7	1.0	14	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PRIMA1	NM_178013.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	148/154	94187810	1,13005	2203	4300	6503	SO:0001583	missense	145270				neurotransmitter catabolic process	cell junction|integral to membrane|synapse		g.chr14:94187810C>T		CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"""membrane anchor of acetylcholinesterase"""	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.442G>A	14.37:g.94187810C>T	ENSP00000376848:p.Val148Met					PRIMA1_uc001ybx.1_RNA	p.V148M	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)	5	484	-		all_cancers(154;0.127)	148			Cytoplasmic (Potential).		Q86XR6	Missense_Mutation	SNP	ENST00000393140.1	37	c.442G>A	CCDS9912.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549874	0.45383	0.0	1.16E-4	ENSG00000175785	ENST00000393140;ENST00000393143	.	.	.	4.65	4.65	0.58169	.	1.101400	0.07115	N	0.842892	T	0.42426	0.1202	N	0.19112	0.55	0.80722	D	1	P	0.49696	0.927	B	0.40285	0.325	T	0.37549	-0.9701	9	0.66056	D	0.02	-10.1953	13.0486	0.58942	0.0:1.0:0.0:0.0	.	148	Q86XR5	PRIMA_HUMAN	M	148	.	ENSP00000376848:V148M	V	-	1	0	PRIMA1	93257563	1.000000	0.71417	0.998000	0.56505	0.057000	0.15508	2.079000	0.41577	2.135000	0.66039	0.591000	0.81541	GTG		0.572	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	NM_178013		13	55	0	0	0	0	13	55				
SERPINA4	5267	broad.mit.edu	37	14	95033433	95033433	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:95033433G>A	ENST00000557004.1	+	3	1197	c.776G>A	c.(775-777)aGa>aAa	p.R259K	SERPINA4_ENST00000555095.1_Missense_Mutation_p.R259K|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.R259K			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	259					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTTCATGACAGATACTTGCCC	0.488																																						uc001ydk.2		NA																	0				ovary(3)|skin(1)	4						c.(775-777)AGA>AAA		serine (or cysteine) proteinase inhibitor, clade							117.0	101.0	106.0					14																	95033433		2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95033433G>A	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.776G>A	14.37:g.95033433G>A	ENSP00000450838:p.Arg259Lys					SERPINA4_uc010avd.2_Missense_Mutation_p.R296K|SERPINA4_uc001ydl.2_Missense_Mutation_p.R259K	p.R259K	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	842	+			259					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.776G>A	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	G	7.492	0.650941	0.14516	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.83837	-1.77;-1.77;-1.77	4.56	-3.85	0.04243	Serpin domain (3);	0.475728	0.17964	N	0.156083	T	0.66858	0.2832	N	0.21545	0.675	0.09310	N	1	B;B	0.18013	0.016;0.025	B;B	0.18263	0.021;0.019	T	0.51236	-0.8731	10	0.16896	T	0.51	.	12.8833	0.58030	0.8164:0.0:0.1836:0.0	.	259;259	B2R815;P29622	.;KAIN_HUMAN	K	259	ENSP00000450838:R259K;ENSP00000451172:R259K;ENSP00000298841:R259K	ENSP00000298841:R259K	R	+	2	0	SERPINA4	94103186	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.109000	0.15417	-0.694000	0.05113	-0.254000	0.11334	AGA		0.488	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		30	74	0	0	0	0	30	74				
MKRN3	7681	broad.mit.edu	37	15	23811560	23811561	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:23811560_23811561CC>AA	ENST00000314520.3	+	1	1107_1108	c.631_632CC>AA	c.(631-633)CCc>AAc	p.P211N	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	211					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCCAGGGCAGCCCTACCGGGGC	0.599																																						uc001ywh.3		NA																	0				lung(6)|large_intestine(2)|ovary(2)	10						c.(631-633)CCC>AAC		makorin ring finger protein 3																																				SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811560_23811561CC>AA	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	Exception_encountered	15.37:g.23811560_23811561delinsAA	ENSP00000313881:p.Pro211Asn					MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.P211N	p.P211N	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1107_1108	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	211						Missense_Mutation	DNP	ENST00000314520.3	37	c.631_632CC>AA	CCDS10013.1																																																																																				0.599	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		12	46	0	0	0	0	12	46				
GABRB3	2562	broad.mit.edu	37	15	26806266	26806266	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:26806266G>T	ENST00000311550.5	-	8	1004	c.893C>A	c.(892-894)cCc>cAc	p.P298H	GABRB3_ENST00000299267.4_Missense_Mutation_p.P298H|GABRB3_ENST00000400188.3_Missense_Mutation_p.P227H|GABRB3_ENST00000545868.1_Missense_Mutation_p.P213H|GABRB3_ENST00000541819.2_Missense_Mutation_p.P354H	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	298	Allosteric effector binding.				cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGGGATTTTGGGCAAGGTCTC	0.468																																						uc001zaz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(892-894)CCC>CAC		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						187.0	175.0	179.0					15																	26806266		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26806266G>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.893C>A	15.37:g.26806266G>T	ENSP00000308725:p.Pro298His					GABRB3_uc010uae.1_Missense_Mutation_p.P213H|GABRB3_uc001zba.2_Missense_Mutation_p.P298H|GABRB3_uc001zbb.2_Missense_Mutation_p.P354H	p.P298H	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	8	1035	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	298					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.893C>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913008	0.92178	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.99382	-5.8;-5.8;-5.8;-5.8;-5.8	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.99616	0.9860	H	0.95574	3.69	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	0.97767	1.0224	10	0.87932	D	0	.	17.7373	0.88397	0.0:0.0:1.0:0.0	.	354;298;298	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	H	298;354;298;227;213	ENSP00000308725:P298H;ENSP00000442408:P354H;ENSP00000299267:P298H;ENSP00000383049:P227H;ENSP00000439169:P213H	ENSP00000299267:P298H	P	-	2	0	GABRB3	24357359	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.724000	0.98775	2.416000	0.81992	0.655000	0.94253	CCC		0.468	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			34	125	1	0	2.42e-17	3.07e-17	34	125				
FSIP1	161835	broad.mit.edu	37	15	39909940	39909940	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:39909940T>C	ENST00000350221.3	-	11	1904	c.1695A>G	c.(1693-1695)atA>atG	p.I565M		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	565										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CCTCACCTGCTATTGTATTCT	0.388																																						uc001zki.2		NA																	0				ovary(2)|skin(1)	3						c.(1693-1695)ATA>ATG		fibrous sheath interacting protein 1							85.0	81.0	82.0					15																	39909940		2200	4297	6497	SO:0001583	missense	161835							g.chr15:39909940T>C	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.1695A>G	15.37:g.39909940T>C	ENSP00000280236:p.Ile565Met						p.I565M	NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)	11	1913	-		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)	565					Q6X2C8|Q86Y89	Missense_Mutation	SNP	ENST00000350221.3	37	c.1695A>G	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	T	3.315	-0.140028	0.06669	.	.	ENSG00000150667	ENST00000350221	T	0.12672	2.66	4.84	3.73	0.42828	.	0.871498	0.09878	N	0.744082	T	0.07279	0.0184	N	0.08118	0	0.09310	N	1	B	0.28584	0.216	B	0.27608	0.081	T	0.28267	-1.0049	9	.	.	.	-1.8584	9.6141	0.39681	0.0:0.084:0.0:0.916	.	565	Q8NA03	FSIP1_HUMAN	M	565	ENSP00000280236:I565M	.	I	-	3	3	FSIP1	37697232	0.001000	0.12720	0.026000	0.17262	0.021000	0.10359	0.934000	0.28910	2.154000	0.67381	0.482000	0.46254	ATA		0.388	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		60	143	0	0	0	0	60	143				
CATSPER2	117155	broad.mit.edu	37	15	43927951	43927951	+	Silent	SNP	G	G	A	rs144799666		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:43927951G>A	ENST00000321596.5	-	9	1294	c.1095C>T	c.(1093-1095)gaC>gaT	p.D365D	CATSPER2_ENST00000354127.4_Silent_p.D365D|STRC_ENST00000541030.1_Intron|RNU6-610P_ENST00000384264.1_RNA|CATSPER2_ENST00000355438.2_Silent_p.D365D|CATSPER2_ENST00000396879.1_Silent_p.D365D|CATSPER2_ENST00000381761.1_Silent_p.D371D			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	365					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCTTGAACATGTCAGCTTTGA	0.488																																						uc001zsh.2		NA																	0				ovary(1)	1						c.(1093-1095)GAC>GAT		sperm-associated cation channel 2 isoform 2		G	,	2,4396	4.2+/-10.8	0,2,2197	83.0	72.0	76.0		1095,1095	2.7	1.0	15	dbSNP_134	76	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	CATSPER2	NM_054020.2,NM_172095.1	,	0,2,6494	AA,AG,GG		0.0,0.0455,0.0154	,	365/529,365/531	43927951	2,12990	2199	4297	6496	SO:0001819	synonymous_variant	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43927951G>A	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.1095C>T	15.37:g.43927951G>A						CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Silent_p.D365D|CATSPER2_uc001zsj.2_Silent_p.D365D	p.D365D	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	9	1310	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	365			Cytoplasmic (Potential).		Q8NHT9|Q96P54|Q96P55	Silent	SNP	ENST00000321596.5	37	c.1095C>T	CCDS10099.1																																																																																				0.488	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		21	45	0	0	0	0	21	45				
SPG11	80208	broad.mit.edu	37	15	44941067	44941067	+	Silent	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:44941067T>A	ENST00000261866.7	-	7	1615	c.1599A>T	c.(1597-1599)ctA>ctT	p.L533L	SPG11_ENST00000558319.1_Silent_p.L533L|SPG11_ENST00000427534.2_Silent_p.L533L|SPG11_ENST00000559193.1_Silent_p.L533L|SPG11_ENST00000535302.2_Silent_p.L533L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	533					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTGTTACCTCTAGTGCATGTA	0.363																																						uc001ztx.2		NA																	0				ovary(4)|skin(1)	5						c.(1597-1599)CTA>CTT		spatacsin isoform 1							105.0	103.0	103.0					15																	44941067		2198	4298	6496	SO:0001819	synonymous_variant	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44941067T>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.1599A>T	15.37:g.44941067T>A						SPG11_uc010ueh.1_Silent_p.L533L|SPG11_uc010uei.1_Silent_p.L533L|SPG11_uc001zua.1_Silent_p.L533L	p.L533L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	7	1630	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	533			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	c.1599A>T	CCDS10112.1																																																																																				0.363	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			47	108	0	0	0	0	47	108				
SLC28A2	9153	broad.mit.edu	37	15	45557355	45557355	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:45557355T>A	ENST00000347644.3	+	8	836	c.771T>A	c.(769-771)ttT>ttA	p.F257L	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	257					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	AGGATGTCTTTGCTTTTCAGG	0.438																																					NSCLC(92;493 1501 26361 28917 47116)	uc001zva.2		NA																	0				ovary(4)	4						c.(769-771)TTT>TTA		solute carrier family 28 (sodium-coupled							162.0	152.0	155.0					15																	45557355		2198	4298	6496	SO:0001583	missense	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45557355T>A	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.771T>A	15.37:g.45557355T>A	ENSP00000315006:p.Phe257Leu						p.F257L	NM_004212	NP_004203	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	8	836	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	257					A8K7F9|O43239|Q52LZ0	Missense_Mutation	SNP	ENST00000347644.3	37	c.771T>A	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.276058	0.80580	.	.	ENSG00000137860	ENST00000347644	T	0.03330	3.97	5.7	3.27	0.37495	.	0.101970	0.64402	D	0.000001	T	0.15955	0.0384	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00121	-1.2029	10	0.54805	T	0.06	-9.0997	7.3422	0.26644	0.0:0.1864:0.0:0.8136	.	257	O43868	S28A2_HUMAN	L	257	ENSP00000315006:F257L	ENSP00000315006:F257L	F	+	3	2	SLC28A2	43344647	1.000000	0.71417	0.992000	0.48379	0.892000	0.51952	3.494000	0.53273	0.375000	0.24679	-0.290000	0.09829	TTT		0.438	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		9	246	0	0	0	0	9	246				
ALDH1A2	8854	broad.mit.edu	37	15	58302916	58302916	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:58302916C>T	ENST00000249750.4	-	4	1191	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.G121S|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.G46S|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.G142S|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.G113S	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	142					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	TTGATGACGCCCTGCAAATCC	0.433																																						uc002aex.2		NA																	0				central_nervous_system(1)	1						c.(424-426)GGC>AGC		aldehyde dehydrogenase 1A2 isoform 1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						101.0	94.0	96.0					15																	58302916		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58302916C>T	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.424G>A	15.37:g.58302916C>T	ENSP00000249750:p.Gly142Ser					ALDH1A2_uc002aey.2_Missense_Mutation_p.G142S|ALDH1A2_uc010ugv.1_Missense_Mutation_p.G121S|ALDH1A2_uc010ugw.1_Missense_Mutation_p.G113S|ALDH1A2_uc002aew.2_Missense_Mutation_p.G46S	p.G142S	NM_003888	NP_003879	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	4	482	-			142					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.424G>A	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254757	0.59212	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.75477	-0.94;2.39;-0.94	5.0	5.0	0.66597	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.60495	0.2273	N	0.17312	0.475	0.80722	D	1	B;B;B;B	0.24920	0.114;0.093;0.03;0.075	B;B;B;B	0.25291	0.037;0.022;0.03;0.059	T	0.55780	-0.8087	10	0.12766	T	0.61	.	18.851	0.92230	0.0:1.0:0.0:0.0	.	113;121;142;142	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	S	142;46;113;142;121	ENSP00000249750:G142S;ENSP00000309623:G142S;ENSP00000438296:G121S	ENSP00000249750:G142S	G	-	1	0	ALDH1A2	56090208	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.126000	0.77201	2.756000	0.94617	0.655000	0.94253	GGC		0.433	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			36	95	0	0	0	0	36	95				
WDR73	84942	broad.mit.edu	37	15	85197483	85197483	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:85197483A>T	ENST00000434634.2	-	1	83	c.23T>A	c.(22-24)cTg>cAg	p.L8Q	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	8										cervix(1)|large_intestine(1)|lung(1)	3						GGATTCCACCAGCCAGTCGTC	0.677																																						uc002bkw.2		NA																	0					0						c.(22-24)CTG>CAG		WD repeat domain 73							111.0	134.0	126.0					15																	85197483		2063	4178	6241	SO:0001583	missense	84942							g.chr15:85197483A>T	AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.23T>A	15.37:g.85197483A>T	ENSP00000387982:p.Leu8Gln					WDR73_uc002bkv.2_5'Flank|WDR73_uc002bkx.2_RNA|WDR73_uc010upa.1_Missense_Mutation_p.L8Q	p.L8Q	NM_032856	NP_116245	Q6P4I2	WDR73_HUMAN			1	39	-			8					Q96JZ1|Q9P0B7	Missense_Mutation	SNP	ENST00000434634.2	37	c.23T>A	CCDS45339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.55|16.55	3.154651|3.154651	0.57259|0.57259	.|.	.|.	ENSG00000177082|ENSG00000177082	ENST00000434634|ENST00000398528	T|.	0.54479|.	0.57|.	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	0.138708|.	0.48767|.	D|.	0.000165|.	T|T	0.60301|0.60301	0.2258|0.2258	L|L	0.47716|0.47716	1.5|1.5	0.37511|0.37511	D|D	0.917165|0.917165	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.91635|.	0.999;0.967|.	T|T	0.67979|0.67979	-0.5530|-0.5530	10|6	0.34782|0.87932	T|D	0.22|0	0.5821|0.5821	10.4137|10.4137	0.44309|0.44309	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	8;8|.	B4DI20;Q6P4I2|.	.;WDR73_HUMAN|.	Q|R	8|14	ENSP00000387982:L8Q|.	ENSP00000387982:L8Q|ENSP00000381539:W14R	L|W	-|-	2|1	0|0	WDR73|WDR73	82998487|82998487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.907000|0.907000	0.53573|0.53573	2.812000|2.812000	0.47994|0.47994	2.023000|2.023000	0.59567|0.59567	0.533000|0.533000	0.62120|0.62120	CTG|TGG		0.677	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	NM_032856		34	136	0	0	0	0	34	136				
NTRK3	4916	broad.mit.edu	37	15	88472661	88472661	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:88472661G>A	ENST00000360948.2	-	16	2055	c.1894C>T	c.(1894-1896)Cat>Tat	p.H632Y	NTRK3_ENST00000394480.2_Missense_Mutation_p.H632Y|NTRK3_ENST00000355254.2_Missense_Mutation_p.H632Y|NTRK3_ENST00000558676.1_Missense_Mutation_p.H624Y|NTRK3_ENST00000542733.2_Missense_Mutation_p.H534Y|NTRK3_ENST00000557856.1_Missense_Mutation_p.H624Y|NTRK3_ENST00000357724.2_Missense_Mutation_p.H624Y	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	632	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTGGCCCATGGGCCCTGCAA	0.597			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1		NA		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	0				soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(1894-1896)CAT>TAT		neurotrophic tyrosine kinase, receptor, type 3							38.0	37.0	38.0					15																	88472661		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88472661G>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1894C>T	15.37:g.88472661G>A	ENSP00000354207:p.His632Tyr	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.H624Y|NTRK3_uc002bmf.1_Missense_Mutation_p.H632Y|NTRK3_uc010upl.1_Missense_Mutation_p.H534Y|NTRK3_uc010bnh.1_Missense_Mutation_p.H624Y	p.H632Y	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		16	2056	-			632			Cytoplasmic (Potential).|Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1894C>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.393651	0.83011	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	5.16	5.16	0.70880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86797	0.6019	L	0.31120	0.905	0.80722	D	1	D;D;D;D;D	0.89917	0.993;0.997;1.0;0.996;0.999	D;D;D;D;D	0.87578	0.978;0.992;0.998;0.986;0.992	D	0.88632	0.3170	10	0.87932	D	0	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	534;624;624;632;632	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	Y	632;632;624;632;534	ENSP00000377990:H632Y;ENSP00000354207:H632Y;ENSP00000350356:H624Y;ENSP00000347397:H632Y;ENSP00000437773:H534Y	ENSP00000347397:H632Y	H	-	1	0	NTRK3	86273665	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.633000	0.98432	2.409000	0.81822	0.655000	0.94253	CAT		0.597	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				10	34	0	0	0	0	10	34				
HBA2	3040	broad.mit.edu	37	16	223546	223546	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:223546C>A	ENST00000251595.6	+	3	442	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	HBA2_ENST00000397806.1_Missense_Mutation_p.L94M	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN	hemoglobin, alpha 2	126			L -> P (in Quong Sze; causes alpha- thalassemia).|L -> R (in Plasencia; family with moderate microcytosis and hypochromia). {ECO:0000269|PubMed:15921163}.		bicarbonate transport (GO:0015701)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of cell death (GO:0010942)|protein heterooligomerization (GO:0051291)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)						all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Iron Dextran(DB00893)|Mefloquine(DB00358)	GCACGCCTCCCTGGACAAGTT	0.652											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									GBM(107;1340 2104 14383 27419)	uc002cfv.3		NA																	0					0						c.(376-378)CTG>ATG		alpha 2 globin	Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)						35.0	41.0	39.0					16																	223546		2151	4296	6447	SO:0001583	missense	3040				hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding	g.chr16:223546C>A	BC008572	CCDS10398.1	16p13.3	2014-05-19			ENSG00000188536	ENSG00000188536			4824	protein-coding gene	gene with protein product		141850				6452630, 2649166	Standard	NM_000517		Approved	HBA-T2	uc002cfv.4	P69905	OTTHUMG00000059924	ENST00000251595.6:c.376C>A	16.37:g.223546C>A	ENSP00000251595:p.Leu126Met		OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	586	HBA2_uc002cfw.2_Intron	p.L126M	NM_000517	NP_000508	P69905	HBA_HUMAN			3	442	+		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	126		L -> R (in Plasencia; family with moderate microcytosis and hypochromia).|L -> P (in Quong Sze; causes alpha- thalassemia).			P01922|Q1HDT5|Q3MIF5|Q53F97|Q96KF1|Q9NYR7|Q9UCM0	Missense_Mutation	SNP	ENST00000251595.6	37	c.376C>A	CCDS10398.1	.	.	.	.	.	.	.	.	.	.	c	12.67	2.006249	0.35415	.	.	ENSG00000188536	ENST00000251595;ENST00000534957;ENST00000397806	D;D	0.94280	-3.21;-3.39	4.24	-0.715	0.11215	Globin-like (1);Globin, structural domain (1);	0.284575	0.34386	N	0.004020	D	0.86611	0.5974	L	0.37507	1.11	0.23727	N	0.99701	B	0.31153	0.31	B	0.37451	0.25	T	0.77656	-0.2506	10	0.62326	D	0.03	-8.3014	0.884	0.01240	0.2347:0.355:0.1237:0.2866	.	126	P69905	HBA_HUMAN	M	126;94;94	ENSP00000251595:L126M;ENSP00000380908:L94M	ENSP00000251595:L126M	L	+	1	2	HBA2	163546	0.000000	0.05858	0.951000	0.38953	0.742000	0.42306	-2.672000	0.00843	0.272000	0.22027	0.553000	0.69018	CTG		0.652	HBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133194.1	NM_000517		18	25	1	0	3.88e-16	4.88e-16	18	25				
UBE2I	7329	broad.mit.edu	37	16	1374785	1374785	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:1374785G>T	ENST00000355803.4	+	7	1019	c.468G>T	c.(466-468)gcG>gcT	p.A156A	LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000566587.1_Silent_p.A156A|UBE2I_ENST00000397515.2_Silent_p.A156A|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000403747.2_Silent_p.A156A|UBE2I_ENST00000325437.5_Silent_p.A156A|UBE2I_ENST00000397514.3_Silent_p.A156A|UBE2I_ENST00000406620.1_Silent_p.A156A	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	156					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				AGAAGTTTGCGCCCTCATAAG	0.473																																						uc002clc.1		NA																	0				breast(1)|skin(1)	2						c.(466-468)GCG>GCT		ubiquitin-conjugating enzyme E2I							105.0	92.0	96.0					16																	1374785		2198	4300	6498	SO:0001819	synonymous_variant	7329				cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity	g.chr16:1374785G>T	D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12485	protein-coding gene	gene with protein product		601661	"""ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)"", ""ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"""			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.468G>T	16.37:g.1374785G>T						UBE2I_uc002cld.1_Silent_p.A156A|UBE2I_uc002clf.1_Silent_p.A156A|UBE2I_uc002clg.1_Silent_p.A156A	p.A156A	NM_194261	NP_919237	P63279	UBC9_HUMAN			7	572	+		Hepatocellular(780;0.00369)	156					D3DU69|P50550|Q15698|Q59GX1|Q86VB3	Silent	SNP	ENST00000355803.4	37	c.468G>T	CCDS10433.1																																																																																				0.473	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250317.2	NM_003345		14	55	1	0	2.46e-09	2.91e-09	14	55				
ZNF597	146434	broad.mit.edu	37	16	3487033	3487033	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:3487033G>A	ENST00000301744.4	-	4	901	c.666C>T	c.(664-666)cgC>cgT	p.R222R		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GAGAGTGCTGGCGAAAGCTGG	0.473																																						uc002cvd.2		NA																	0					0						c.(664-666)CGC>CGT		zinc finger protein 597							133.0	125.0	128.0					16																	3487033		2197	4300	6497	SO:0001819	synonymous_variant	146434				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3487033G>A	AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"""Zinc fingers, C2H2-type"", ""-"""	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.666C>T	16.37:g.3487033G>A							p.R222R	NM_152457	NP_689670	Q96LX8	ZN597_HUMAN			4	850	-			222			C2H2-type 3.			Silent	SNP	ENST00000301744.4	37	c.666C>T	CCDS10505.1																																																																																				0.473	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457		80	194	0	0	0	0	80	194				
TFAP4	7023	broad.mit.edu	37	16	4310219	4310219	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:4310219G>A	ENST00000204517.6	-	6	1022	c.694C>T	c.(694-696)Cac>Tac	p.H232Y		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	232	Pro-rich.				cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						ACCGTGGGGTGGTGGGTGGGG	0.617																																						uc010uxg.1		NA																	0				ovary(1)	1						c.(694-696)CAC>TAC		transcription factor AP-4 (activating enhancer							35.0	33.0	33.0					16																	4310219		2197	4299	6496	SO:0001583	missense	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4310219G>A	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"""Basic helix-loop-helix proteins"""	11745	protein-coding gene	gene with protein product		600743	"""transcription factor AP-4 (activating enhancer-binding protein 4)"""			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.694C>T	16.37:g.4310219G>A	ENSP00000204517:p.His232Tyr						p.H232Y	NM_003223	NP_003214	Q01664	TFAP4_HUMAN			6	948	-			232			Pro-rich.		O60409	Missense_Mutation	SNP	ENST00000204517.6	37	c.694C>T	CCDS10510.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595532	0.66219	.	.	ENSG00000090447	ENST00000204517	D	0.98701	-5.08	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.98698	0.9563	L	0.60455	1.87	0.54753	D	0.999981	D	0.57899	0.981	D	0.65140	0.932	D	0.99497	1.0952	10	0.52906	T	0.07	.	17.6422	0.88139	0.0:0.0:1.0:0.0	.	232	Q01664	TFAP4_HUMAN	Y	232	ENSP00000204517:H232Y	ENSP00000204517:H232Y	H	-	1	0	TFAP4	4250220	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.064000	0.93933	2.466000	0.83321	0.563000	0.77884	CAC		0.617	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		26	39	0	0	0	0	26	39				
GRIN2A	2903	broad.mit.edu	37	16	9892263	9892263	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:9892263C>G	ENST00000396573.2	-	12	2536	c.2227G>C	c.(2227-2229)Gaa>Caa	p.E743Q	GRIN2A_ENST00000535259.1_Missense_Mutation_p.E586Q|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E743Q|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E743Q|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E743Q|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E743Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	743					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTGCAGCCTTCATCCCTCCCA	0.537																																						uc002czo.3		NA																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(2227-2229)GAA>CAA		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						112.0	87.0	96.0					16																	9892263		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9892263C>G		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2227G>C	16.37:g.9892263C>G	ENSP00000379818:p.Glu743Gln					GRIN2A_uc010uym.1_Missense_Mutation_p.E743Q|GRIN2A_uc010uyn.1_Missense_Mutation_p.E586Q|GRIN2A_uc002czr.3_Missense_Mutation_p.E743Q	p.E743Q	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			11	2775	-			743			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2227G>C	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562797	0.65538	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.33	5.33	0.75918	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.175015	0.49305	D	0.000144	T	0.49795	0.1578	L	0.52364	1.645	0.80722	D	1	B;B;P	0.46277	0.006;0.008;0.875	B;B;P	0.45310	0.007;0.008;0.476	T	0.45659	-0.9246	9	.	.	.	.	17.9942	0.89177	0.0:1.0:0.0:0.0	.	586;743;743	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	Q	743;743;586;743;743	ENSP00000379818:E743Q;ENSP00000385872:E743Q;ENSP00000441572:E586Q;ENSP00000332549:E743Q;ENSP00000379820:E743Q	.	E	-	1	0	GRIN2A	9799764	1.000000	0.71417	0.981000	0.43875	0.742000	0.42306	7.681000	0.84073	2.489000	0.83994	0.557000	0.71058	GAA		0.537	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			23	87	0	0	0	0	23	87				
ACSM1	116285	broad.mit.edu	37	16	20682863	20682863	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:20682863A>G	ENST00000307493.4	-	4	809	c.742T>C	c.(742-744)Ttc>Ctc	p.F248L	ACSM1_ENST00000520010.1_Missense_Mutation_p.F248L|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	248					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CTTCCTGGGAAGGAGGGTTGT	0.532																																						uc002dhm.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(742-744)TTC>CTC		acyl-CoA synthetase medium-chain family member							91.0	77.0	82.0					16																	20682863		2201	4300	6501	SO:0001583	missense	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20682863A>G	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.742T>C	16.37:g.20682863A>G	ENSP00000301956:p.Phe248Leu					ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.F248L	p.F248L	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN			4	810	-			248					Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	c.742T>C	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	A	0.535	-0.856103	0.02630	.	.	ENSG00000166743	ENST00000307493;ENST00000520010	T;T	0.42900	0.96;0.96	4.95	-2.45	0.06481	AMP-dependent synthetase/ligase (1);	1.346830	0.05139	N	0.493843	T	0.18383	0.0441	N	0.12611	0.24	0.20821	N	0.999849	B	0.02656	0.0	B	0.06405	0.002	T	0.12116	-1.0560	10	0.09084	T	0.74	.	1.7616	0.02993	0.3911:0.1273:0.3453:0.1363	.	248	Q08AH1	ACSM1_HUMAN	L	248	ENSP00000301956:F248L;ENSP00000428047:F248L	ENSP00000301956:F248L	F	-	1	0	ACSM1	20590364	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.047000	0.01408	-0.657000	0.05373	-0.975000	0.02590	TTC		0.532	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		36	76	0	0	0	0	36	76				
EEF2K	29904	broad.mit.edu	37	16	22271842	22271842	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:22271842A>T	ENST00000263026.5	+	11	1765	c.1291A>T	c.(1291-1293)Aac>Tac	p.N431Y		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	431					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TCATCTAGACAACCACCGGGT	0.547																																					NSCLC(195;1411 2157 20319 27471 51856)	uc002dki.2		NA																	0				large_intestine(1)	1						c.(1291-1293)AAC>TAC		elongation factor-2 kinase							164.0	144.0	151.0					16																	22271842		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22271842A>T	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.1291A>T	16.37:g.22271842A>T	ENSP00000263026:p.Asn431Tyr					EEF2K_uc002dkh.2_RNA	p.N431Y	NM_013302	NP_037434	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	11	1776	+			431					Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.1291A>T	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405044	0.62288	.	.	ENSG00000103319	ENST00000263026	T	0.37235	1.21	6.17	6.17	0.99709	.	0.305960	0.41194	D	0.000925	T	0.29423	0.0733	L	0.29908	0.895	0.53688	D	0.999972	P	0.36027	0.533	B	0.33799	0.17	T	0.08186	-1.0734	10	0.56958	D	0.05	-4.149	15.0521	0.71881	1.0:0.0:0.0:0.0	.	431	O00418	EF2K_HUMAN	Y	431	ENSP00000263026:N431Y	ENSP00000263026:N431Y	N	+	1	0	EEF2K	22179343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.736000	0.68597	2.371000	0.80710	0.533000	0.62120	AAC		0.547	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		55	193	0	0	0	0	55	193				
ITGAX	3687	broad.mit.edu	37	16	31373420	31373420	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:31373420G>A	ENST00000268296.4	+	11	1232	c.1111G>A	c.(1111-1113)Ggg>Agg	p.G371R	ITGAX_ENST00000562522.1_Missense_Mutation_p.G371R	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	371					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGGGGCTGTGGGGAGCTTCAC	0.567																																						uc002ebu.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1111-1113)GGG>AGG		integrin alpha X precursor							98.0	101.0	100.0					16																	31373420		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31373420G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1111G>A	16.37:g.31373420G>A	ENSP00000268296:p.Gly371Arg					ITGAX_uc002ebt.2_Missense_Mutation_p.G371R|ITGAX_uc010vfk.1_Missense_Mutation_p.G21R	p.G371R	NM_000887	NP_000878	P20702	ITAX_HUMAN			11	1178	+			371			FG-GAP 3.|Extracellular (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1111G>A	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	g	22.8	4.340589	0.81911	.	.	ENSG00000140678	ENST00000268296	T	0.78126	-1.15	4.5	4.5	0.54988	.	.	.	.	.	D	0.92394	0.7586	H	0.98351	4.21	0.40276	D	0.978349	D	0.89917	1.0	D	0.81914	0.995	D	0.95370	0.8463	9	0.87932	D	0	.	14.4899	0.67645	0.0:0.0:1.0:0.0	.	371	P20702	ITAX_HUMAN	R	371	ENSP00000268296:G371R	ENSP00000268296:G371R	G	+	1	0	ITGAX	31280921	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.562000	0.67346	2.217000	0.71921	0.580000	0.79431	GGG		0.567	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		82	252	0	0	0	0	82	252				
TSR1	55720	broad.mit.edu	37	17	2238908	2238908	+	Silent	SNP	C	C	T	rs139241652		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:2238908C>T	ENST00000301364.5	-	3	1397	c.318G>A	c.(316-318)agG>agA	p.R106R	SGSM2_ENST00000426855.2_5'Flank|SGSM2_ENST00000574563.1_5'Flank|TSR1_ENST00000576112.2_Silent_p.R106R|SGSM2_ENST00000268989.3_5'Flank	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	106	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						TTCCAGTGTCCCTATCTTGAA	0.542																																						uc002fuj.2		NA																	0				ovary(1)	1						c.(316-318)AGG>AGA		TSR1, 20S rRNA accumulation		C		2,4404	4.2+/-10.8	0,2,2201	78.0	72.0	74.0		318	-5.3	0.0	17	dbSNP_134	74	0,8600		0,0,4300	no	coding-synonymous	TSR1	NM_018128.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		106/805	2238908	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2238908C>T	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.318G>A	17.37:g.2238908C>T						SGSM2_uc002fum.3_5'Flank|SGSM2_uc010vqw.1_5'Flank|SGSM2_uc002fun.3_5'Flank	p.R106R	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN			3	1275	-			106					Q8WUY5|Q9NVT0|Q9P2E6	Silent	SNP	ENST00000301364.5	37	c.318G>A	CCDS32525.1																																																																																				0.542	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		4	153	0	0	0	0	4	153				
OR1D2	4991	broad.mit.edu	37	17	2995854	2995854	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:2995854G>A	ENST00000331459.1	-	1	436	c.437C>T	c.(436-438)tCc>tTc	p.S146F		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	146					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CCAACACAAGGAAAGGAGTAA	0.522																																						uc010vrb.1		NA																	0				ovary(1)	1						c.(436-438)TCC>TTC		olfactory receptor, family 1, subfamily D,							86.0	90.0	88.0					17																	2995854		2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2995854G>A	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.437C>T	17.37:g.2995854G>A	ENSP00000327585:p.Ser146Phe						p.S146F	NM_002548	NP_002539	P34982	OR1D2_HUMAN			1	437	-			146			Helical; Name=4; (Potential).		Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.437C>T	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	g	3.360	-0.130647	0.06753	.	.	ENSG00000184166	ENST00000331459	T	0.36878	1.23	3.0	-3.5	0.04710	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.30572	0.0769	L	0.38733	1.17	0.09310	N	1	B	0.32893	0.389	B	0.43575	0.424	T	0.48115	-0.9063	9	0.52906	T	0.07	.	5.0338	0.14423	0.4743:0.1571:0.3687:0.0	.	146	P34982	OR1D2_HUMAN	F	146	ENSP00000327585:S146F	ENSP00000327585:S146F	S	-	2	0	OR1D2	2942604	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.031000	0.03578	-0.289000	0.09038	-0.300000	0.09419	TCC		0.522	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		38	50	0	0	0	0	38	50				
ATP2A3	489	broad.mit.edu	37	17	3844430	3844430	+	Silent	SNP	C	C	T	rs139395876	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:3844430C>T	ENST00000352011.3	-	14	1989	c.1935G>A	c.(1933-1935)acG>acA	p.T645T	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Silent_p.T645T|ATP2A3_ENST00000359983.3_Silent_p.T645T|ATP2A3_ENST00000309890.7_Silent_p.T645T|ATP2A3_ENST00000397043.3_Silent_p.T645T|ATP2A3_ENST00000397041.3_Silent_p.T645T			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	645					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCACGTCTTCCGTGTCCCCAA	0.682													C|||	3	0.000599042	0.0023	0.0	5008	,	,		15510	0.0		0.0	False		,,,				2504	0.0				GBM(32;29 774 15719 37967)	uc002fxb.1		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)	5						c.(1933-1935)ACG>ACA		ATPase, Ca++ transporting, ubiquitous isoform b		C	,,,,,,	3,4403	6.2+/-15.9	0,3,2200	53.0	47.0	49.0		1935,1935,1935,1935,1935,1935,1935	-4.5	0.0	17	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ATP2A3	NM_005173.3,NM_174953.2,NM_174954.2,NM_174955.2,NM_174956.2,NM_174957.2,NM_174958.2	,,,,,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,,,,,	645/1000,645/1053,645/1045,645/1044,645/1030,645/999,645/1030	3844430	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3844430C>T		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1935G>A	17.37:g.3844430C>T						ATP2A3_uc002fwx.1_Silent_p.T645T|ATP2A3_uc002fwy.1_Silent_p.T645T|ATP2A3_uc002fwz.1_Silent_p.T645T|ATP2A3_uc002fxa.1_Silent_p.T645T|ATP2A3_uc002fxc.1_Silent_p.T645T|ATP2A3_uc002fxd.1_Silent_p.T645T	p.T645T	NM_174955	NP_777615	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	14	2086	-			645			Cytoplasmic (By similarity).		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	c.1935G>A	CCDS11041.1																																																																																				0.682	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		14	86	0	0	0	0	14	86				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)CGT>CAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		34	36	0	0	0	0	34	36				
MYH2	4620	broad.mit.edu	37	17	10429179	10429179	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:10429179T>A	ENST00000245503.5	-	31	4586	c.4202A>T	c.(4201-4203)cAg>cTg	p.Q1401L	MYH2_ENST00000397183.2_Missense_Mutation_p.Q1401L|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1401					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGCAGCCGCTGGGCCAGCTT	0.473																																						uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(4201-4203)CAG>CTG		myosin heavy chain IIa							41.0	41.0	41.0					17																	10429179		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10429179T>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4202A>T	17.37:g.10429179T>A	ENSP00000245503:p.Gln1401Leu					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.Q1401L|MYH2_uc010coj.2_Intron	p.Q1401L	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			31	4330	-			1401			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4202A>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.385031	0.42308	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.78924	-1.22;-1.22	5.03	5.03	0.67393	Myosin tail (1);	0.000000	0.37483	U	0.002063	D	0.82586	0.5069	M	0.63169	1.94	0.48087	D	0.999585	P	0.45240	0.854	P	0.56216	0.794	T	0.79167	-0.1915	10	0.18276	T	0.48	.	14.9212	0.70838	0.0:0.0:0.0:1.0	.	1401	Q9UKX2	MYH2_HUMAN	L	1401	ENSP00000245503:Q1401L;ENSP00000380367:Q1401L	ENSP00000245503:Q1401L	Q	-	2	0	MYH2	10369904	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.912000	0.63335	2.119000	0.64992	0.379000	0.24179	CAG		0.473	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		14	70	0	0	0	0	14	70				
DNAH9	1770	broad.mit.edu	37	17	11515024	11515024	+	Missense_Mutation	SNP	G	G	T	rs141141277		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:11515024G>T	ENST00000262442.4	+	4	899	c.831G>T	c.(829-831)atG>atT	p.M277I	DNAH9_ENST00000454412.2_Missense_Mutation_p.M277I|DNAH9_ENST00000579828.1_Missense_Mutation_p.M277I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	277	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAGGGGCATGGCCAAGCTCC	0.443																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(829-831)ATG>ATT		dynein, axonemal, heavy chain 9 isoform 2							151.0	133.0	139.0					17																	11515024		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11515024G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.831G>T	17.37:g.11515024G>T	ENSP00000262442:p.Met277Ile					DNAH9_uc002gnd.1_Missense_Mutation_p.M277I	p.M277I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	4	899	+		Breast(5;0.0122)|all_epithelial(5;0.131)	277			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.831G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	4.074	0.011562	0.07912	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.53206	0.63;0.63	5.69	1.47	0.22746	Dynein heavy chain, domain-1 (1);	0.207545	0.48767	N	0.000175	T	0.32466	0.0830	L	0.31420	0.93	0.80722	D	1	B;B	0.22604	0.013;0.072	B;B	0.29267	0.032;0.1	T	0.05582	-1.0876	10	0.14656	T	0.56	.	10.2762	0.43512	0.2721:0.0:0.7279:0.0	.	277;277	Q9NYC9;E7EP17	DYH9_HUMAN;.	I	277	ENSP00000262442:M277I;ENSP00000414874:M277I	ENSP00000262442:M277I	M	+	3	0	DNAH9	11455749	1.000000	0.71417	0.387000	0.26183	0.024000	0.10985	3.999000	0.57031	0.350000	0.24002	0.609000	0.83330	ATG		0.443	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		87	66	1	0	1.72e-36	2.29e-36	87	66				
MAP2K3	5606	broad.mit.edu	37	17	21207776	21207776	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:21207776C>T	ENST00000342679.4	+	8	856	c.607C>T	c.(607-609)Cat>Tat	p.H203Y	MAP2K3_ENST00000361818.5_Missense_Mutation_p.H174Y|MAP2K3_ENST00000316920.6_Missense_Mutation_p.H174Y	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	203	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CAAGGAGGGCCATGTGAAGAT	0.582																																						uc002gys.2		NA																	0					0						c.(607-609)CAT>TAT		mitogen-activated protein kinase kinase 3							306.0	200.0	236.0					17																	21207776		2203	4300	6503	SO:0001583	missense	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21207776C>T	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.607C>T	17.37:g.21207776C>T	ENSP00000345083:p.His203Tyr					MAP2K3_uc002gyt.2_Missense_Mutation_p.H174Y|MAP2K3_uc002gyu.2_Missense_Mutation_p.H174Y	p.H203Y	NM_145109	NP_659731	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	8	872	+			203			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	c.607C>T	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357738	0.82243	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.65549	-0.16;-0.16	4.98	4.01	0.46588	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.071647	0.56097	D	0.000036	T	0.59689	0.2212	N	0.25380	0.74	0.45718	D	0.998628	P	0.48016	0.904	P	0.51487	0.671	T	0.64385	-0.6420	10	0.87932	D	0	-25.3748	13.4225	0.61007	0.0:0.9237:0.0:0.0763	.	203	P46734	MP2K3_HUMAN	Y	203;174;174;207	ENSP00000345083:H203Y;ENSP00000355081:H174Y	ENSP00000319139:H207Y	H	+	1	0	MAP2K3	21148369	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	5.823000	0.69272	1.096000	0.41439	0.563000	0.77884	CAT		0.582	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		12	108	0	0	0	0	12	108				
FAM222B	55731	broad.mit.edu	37	17	27085474	27085474	+	Silent	SNP	G	G	T	rs201468014		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:27085474G>T	ENST00000341217.5	-	3	1718	c.1503C>A	c.(1501-1503)ggC>ggA	p.G501G	FAM222B_ENST00000581407.1_Silent_p.G501G|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000452648.3_Silent_p.G501G	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	501								p.G501G(1)									CCACTGGACCGCCCCCGGTCC	0.632																																						uc002hct.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)	1						c.(1501-1503)GGC>GGA		hypothetical protein LOC55731							43.0	47.0	46.0					17																	27085474		1970	4134	6104	SO:0001819	synonymous_variant	55731							g.chr17:27085474G>T	AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.1503C>A	17.37:g.27085474G>T						C17orf63_uc010wax.1_Silent_p.G501G|C17orf63_uc010way.1_Silent_p.G501G|C17orf63_uc002hcw.2_Silent_p.G373G	p.G501G	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104)		3	1770	-	all_epithelial(6;5.06e-20)|Lung NSC(42;0.01)		501					Q9H6F3|Q9NVJ4|Q9NXN6	Silent	SNP	ENST00000341217.5	37	c.1503C>A	CCDS45637.1																																																																																				0.632	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446703.1	NM_018182		34	67	1	0	6.01e-18	7.66e-18	34	67				
GPR179	440435	broad.mit.edu	37	17	36483635	36483635	+	Silent	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:36483635T>A	ENST00000342292.4	-	11	5837	c.5817A>T	c.(5815-5817)acA>acT	p.T1939T	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1939					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGAATTCTTCTGTGTCTGCAG	0.498																																						uc002hpz.2		NA																	0				ovary(3)	3						c.(5815-5817)ACA>ACT		GPR158-like 1 precursor							68.0	68.0	68.0					17																	36483635		1925	4132	6057	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36483635T>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5817A>T	17.37:g.36483635T>A							p.T1939T	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	5838	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1939			Cytoplasmic (Potential).			Silent	SNP	ENST00000342292.4	37	c.5817A>T	CCDS42308.1																																																																																				0.498	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			28	97	0	0	0	0	28	97				
ERBB2	2064	broad.mit.edu	37	17	37879629	37879629	+	Silent	SNP	G	G	T	rs199841166		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:37879629G>T	ENST00000269571.5	+	17	2163	c.2004G>T	c.(2002-2004)ggG>ggT	p.G668G	ERBB2_ENST00000540147.1_Silent_p.G638G|ERBB2_ENST00000584450.1_Silent_p.G668G|ERBB2_ENST00000445658.2_Silent_p.G392G|ERBB2_ENST00000584601.1_Silent_p.G638G|ERBB2_ENST00000406381.2_Silent_p.G638G|ERBB2_ENST00000541774.1_Silent_p.G653G			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	668					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TGGTCTTGGGGGTGGTCTTTG	0.607		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		0				lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(2002-2004)GGG>GGT		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						129.0	118.0	122.0					17																	37879629		2203	4300	6503	SO:0001819	synonymous_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37879629G>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2004G>T	17.37:g.37879629G>T		TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Silent_p.G638G|ERBB2_uc010cwa.2_Silent_p.G653G|ERBB2_uc002hsp.2_Silent_p.G471G|ERBB2_uc010cwb.2_Silent_p.G668G|ERBB2_uc010wek.1_Silent_p.G392G	p.G668G	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	17	2242	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	668			Helical; (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.2004G>T	CCDS32642.1																																																																																				0.607	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			49	147	1	0	3.22e-24	4.21e-24	49	147				
KRTAP4-8	728224	broad.mit.edu	37	17	39253804	39253804	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:39253804A>T	ENST00000333822.4	-	1	589	c.533T>A	c.(532-534)gTg>gAg	p.V178E		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	178					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GGCGCAGCACACGGGGCGGGG	0.617																																						uc010wfo.1		NA																	0					0						c.(532-534)GTG>GAG		keratin associated protein 4.8							64.0	74.0	71.0					17																	39253804		692	1591	2283	SO:0001583	missense	728224					keratin filament		g.chr17:39253804A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.533T>A	17.37:g.39253804A>T	ENSP00000328444:p.Val178Glu						p.V178E	NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN			1	572	-			178					A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.533T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	10.19	1.281764	0.23392	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.00585	6.39	3.73	1.35	0.21983	.	.	.	.	.	T	0.00845	0.0028	M	0.68593	2.085	0.09310	N	1	B	0.17465	0.022	B	0.23852	0.049	T	0.42965	-0.9420	9	0.62326	D	0.03	.	5.3929	0.16253	0.4524:0.0:0.5476:0.0	.	178	Q9BYQ9	KRA48_HUMAN	E	178;148	ENSP00000328444:V178E	ENSP00000414561:V148E	V	-	2	0	KRTAP4-8	36507330	0.014000	0.17966	0.813000	0.32504	0.315000	0.28087	0.926000	0.28804	-0.052000	0.13311	0.369000	0.22263	GTG		0.617	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		2	2	0	0	0	0	2	2				
KRT33A	3883	broad.mit.edu	37	17	39502482	39502482	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:39502482G>A	ENST00000007735.3	-	7	1148	c.1104C>T	c.(1102-1104)ccC>ccT	p.P368P		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	368	Tail.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				AGGGGTTGGAGGGGAGCCTGT	0.488																																						uc002hwk.1		NA																	0					0						c.(1102-1104)CCC>CCT		keratin 33A							87.0	84.0	85.0					17																	39502482		2203	4300	6503	SO:0001819	synonymous_variant	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39502482G>A	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.1104C>T	17.37:g.39502482G>A							p.P368P	NM_004138	NP_004129	O76009	KT33A_HUMAN			7	1141	-		Breast(137;0.000496)	368			Tail.		B2RA87|Q6NTB9|Q6ZZB9	Silent	SNP	ENST00000007735.3	37	c.1104C>T	CCDS11388.1																																																																																				0.488	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		12	129	0	0	0	0	12	129				
CNTD1	124817	broad.mit.edu	37	17	40951132	40951132	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:40951132A>G	ENST00000588408.1	+	1	323	c.47A>G	c.(46-48)cAg>cGg	p.Q16R	COA3_ENST00000328434.7_5'Flank|CNTD1_ENST00000588527.1_Intron	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	16										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GTTGACTTTCAGTTTGGAGTT	0.607																																						uc002ibm.3		NA																	0				central_nervous_system(1)	1						c.(46-48)CAG>CGG		cyclin N-terminal domain containing 1							53.0	47.0	49.0					17																	40951132		2203	4300	6503	SO:0001583	missense	124817							g.chr17:40951132A>G	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"""cyclin N-terminal domain containing"""	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.47A>G	17.37:g.40951132A>G	ENSP00000465204:p.Gln16Arg					CCDC56_uc010wgz.1_5'Flank|CCDC56_uc002ibl.2_5'Flank|CNTD1_uc010wha.1_Intron	p.Q16R	NM_173478	NP_775749	Q8N815	CNTD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	1	279	+		Breast(137;0.00104)	16					Q658Q6|Q8NEP1	Missense_Mutation	SNP	ENST00000588408.1	37	c.47A>G	CCDS11440.1	.	.	.	.	.	.	.	.	.	.	A	9.117	1.007981	0.19199	.	.	ENSG00000176563	ENST00000315066	.	.	.	5.04	3.96	0.45880	Cyclin-like (1);	0.478205	0.21286	N	0.077061	T	0.45617	0.1351	L	0.51422	1.61	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29701	-1.0003	9	0.22706	T	0.39	-3.749	5.7915	0.18363	0.7682:0.0:0.083:0.1489	.	16	Q8N815	CNTD1_HUMAN	R	16	.	ENSP00000316647:Q16R	Q	+	2	0	CNTD1	38204658	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	1.686000	0.37669	0.950000	0.37743	0.533000	0.62120	CAG		0.607	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478		3	70	0	0	0	0	3	70				
RUNDC1	146923	broad.mit.edu	37	17	41141370	41141370	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:41141370G>C	ENST00000361677.1	+	3	682	c.670G>C	c.(670-672)Gag>Cag	p.E224Q		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	224										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GATCATAGATGAGTTAATAAA	0.433																																						uc002ici.1		NA																	0					0						c.(670-672)GAG>CAG		RUN domain containing 1							81.0	77.0	78.0					17																	41141370		2203	4300	6503	SO:0001583	missense	146923							g.chr17:41141370G>C	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.670G>C	17.37:g.41141370G>C	ENSP00000354622:p.Glu224Gln					RUNDC1_uc010whi.1_5'UTR	p.E224Q	NM_173079	NP_775102	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	3	682	+		Breast(137;0.00499)	224			Potential.		Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	ENST00000361677.1	37	c.670G>C	CCDS11448.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796926	0.90453	.	.	ENSG00000198863	ENST00000361677	T	0.74315	-0.83	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.83806	0.5334	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.79831	-0.1637	10	0.27082	T	0.32	-29.971	19.2405	0.93881	0.0:0.0:1.0:0.0	.	224	Q96C34	RUND1_HUMAN	Q	224	ENSP00000354622:E224Q	ENSP00000354622:E224Q	E	+	1	0	RUNDC1	38394896	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.780000	0.95670	0.655000	0.94253	GAG		0.433	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		22	56	0	0	0	0	22	56				
RUNDC1	146923	broad.mit.edu	37	17	41141510	41141510	+	Silent	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:41141510G>C	ENST00000361677.1	+	3	822	c.810G>C	c.(808-810)ctG>ctC	p.L270L		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	270										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TTGAGCAACTGAAAACTCAGA	0.478																																						uc002ici.1		NA																	0					0						c.(808-810)CTG>CTC		RUN domain containing 1							97.0	84.0	88.0					17																	41141510		2203	4300	6503	SO:0001819	synonymous_variant	146923							g.chr17:41141510G>C	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.810G>C	17.37:g.41141510G>C						RUNDC1_uc010whi.1_Silent_p.L40L	p.L270L	NM_173079	NP_775102	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	3	822	+		Breast(137;0.00499)	270					Q6Y2K8|Q8IXT9|Q8N3W1	Silent	SNP	ENST00000361677.1	37	c.810G>C	CCDS11448.1																																																																																				0.478	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		35	85	0	0	0	0	35	85				
EFCAB13	124989	broad.mit.edu	37	17	45481247	45481247	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:45481247T>A	ENST00000331493.2	+	19	2432	c.2021T>A	c.(2020-2022)tTa>tAa	p.L674*	EFCAB13_ENST00000517484.1_Nonsense_Mutation_p.L578*	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	674						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TTTATAGAGTTACAGGAAGTT	0.343																																						uc002iln.2		NA																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(2020-2022)TTA>TAA		hypothetical protein LOC124989							79.0	81.0	81.0					17																	45481247		2203	4300	6503	SO:0001587	stop_gained	124989						calcium ion binding	g.chr17:45481247T>A	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2021T>A	17.37:g.45481247T>A	ENSP00000332111:p.Leu674*					C17orf57_uc002ilm.2_Nonsense_Mutation_p.L578*	p.L674*	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN			19	2432	+			674					G3V128|Q49AG9	Nonsense_Mutation	SNP	ENST00000331493.2	37	c.2021T>A	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	T	37	6.139655	0.97320	.	.	ENSG00000178852	ENST00000331493;ENST00000517484	.	.	.	3.5	1.16	0.20824	.	1.723460	0.03293	N	0.187830	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.3271	4.8024	0.13303	0.0:0.3177:0.0:0.6823	.	.	.	.	X	674;578	.	ENSP00000332111:L674X	L	+	2	0	C17orf57	42836246	0.067000	0.21026	0.068000	0.19968	0.123000	0.20343	0.300000	0.19156	0.093000	0.17368	0.478000	0.44815	TTA		0.343	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		34	115	0	0	0	0	34	115				
MYCBPAP	84073	broad.mit.edu	37	17	48601147	48601147	+	Splice_Site	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:48601147T>A	ENST00000323776.5	+	12	1926		c.e12+2		MYCBPAP_ENST00000436259.2_Splice_Site	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GTACTGGAGGTAAGGGACCCA	0.532																																						uc010wmr.1		NA																	0				urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6						c.e12+2		Myc-binding protein-associated protein							40.0	40.0	40.0					17																	48601147		2203	4300	6503	SO:0001630	splice_region_variant	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48601147T>A	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1764+2T>A	17.37:g.48601147T>A						MYCBPAP_uc002iqz.2_Splice_Site	p.E588_splice	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		12	1926	+	Breast(11;1.23e-18)								Splice_Site	SNP	ENST00000323776.5	37	c.1764_splice	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	T	15.07	2.724451	0.48728	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5927	0.68378	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYCBPAP	45956146	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	5.459000	0.66685	2.194000	0.70268	0.533000	0.62120	.		0.532	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133	Intron	15	49	0	0	0	0	15	49				
MMD	23531	broad.mit.edu	37	17	53471830	53471830	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:53471830G>A	ENST00000262065.3	-	7	878	c.582C>T	c.(580-582)ttC>ttT	p.F194F		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	194					cytolysis (GO:0019835)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CACTCTTGAAGAACACAACTC	0.453																																						uc002iui.2		NA																	0					0						c.(580-582)TTC>TTT		monocyte to macrophage							97.0	86.0	90.0					17																	53471830		2203	4300	6503	SO:0001819	synonymous_variant	23531				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity	g.chr17:53471830G>A	X85750	CCDS11586.1	17q	2008-05-02				ENSG00000108960			7153	protein-coding gene	gene with protein product		604467				7503749, 16044242	Standard	NM_012329		Approved	MMA, PAQR11	uc002iui.3	Q15546		ENST00000262065.3:c.582C>T	17.37:g.53471830G>A							p.F194F	NM_012329	NP_036461	Q15546	PAQRB_HUMAN			7	867	-			194			Helical; (Potential).		B2R6X9|D3DTY6|Q8TAN7	Silent	SNP	ENST00000262065.3	37	c.582C>T	CCDS11586.1																																																																																				0.453	MMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439214.1			26	89	0	0	0	0	26	89				
SEPT9	10801	broad.mit.edu	37	17	75488797	75488797	+	Splice_Site	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:75488797G>C	ENST00000427177.1	+	9	1601	c.1475G>C	c.(1474-1476)cGg>cCg	p.R492P	SEPT9_ENST00000585930.1_Splice_Site_p.R268P|SEPT9_ENST00000427180.1_Splice_Site_p.R380P|SEPT9_ENST00000329047.8_Splice_Site_p.R474P|SEPT9_ENST00000590294.1_Splice_Site_p.R474P|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000423034.2_Splice_Site_p.R485P|SEPT9_ENST00000427674.2_Splice_Site_p.R328P|SEPT9_ENST00000541152.2_Splice_Site_p.R241P|SEPT9_ENST00000449803.2_Splice_Site_p.R328P|SEPT9_ENST00000591088.1_Splice_Site_p.R241P|SEPT9_ENST00000431235.2_Splice_Site_p.R328P|SEPT9_ENST00000588690.1_Splice_Site_p.R328P|SEPT9_ENST00000591198.1_Splice_Site_p.R473P|SEPT9_ENST00000592951.1_Splice_Site_p.R241P	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	492	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GAGAAGTTCCGGGTGAGTGGA	0.557																																						uc002jts.3		NA																	0				breast(2)|ovary(1)	3						c.(1474-1476)CGG>CCG		septin 9 isoform a							115.0	124.0	121.0					17																	75488797		1950	4132	6082	SO:0001630	splice_region_variant	10801				cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding	g.chr17:75488797G>C	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.1476+1G>C	17.37:g.75488797G>C						SEPT9_uc010wtk.1_Missense_Mutation_p.R473P|SEPT9_uc002jtt.3_Missense_Mutation_p.R328P|SEPT9_uc002jtu.3_Missense_Mutation_p.R474P|SEPT9_uc002jtv.2_Missense_Mutation_p.R485P|SEPT9_uc002jtw.2_Missense_Mutation_p.R328P|SEPT9_uc010wtl.1_Missense_Mutation_p.R268P|SEPT9_uc002jty.3_Missense_Mutation_p.R241P|SEPT9_uc010wtm.1_Missense_Mutation_p.R241P|SEPT9_uc010wtn.1_Missense_Mutation_p.R241P|SEPT9_uc010dhd.2_Missense_Mutation_p.R380P	p.R492P	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		9	1601	+			492					A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	c.1475G>C	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	g	28.1	4.891151	0.91889	.	.	ENSG00000184640	ENST00000427177;ENST00000449803;ENST00000329047;ENST00000423034;ENST00000427674;ENST00000541152;ENST00000431235;ENST00000427180	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.77412	0.4126	M	0.93594	3.435	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.992;0.999;0.99;0.994;0.995	D;P;D;D;D;D	0.75484	0.98;0.835;0.983;0.964;0.976;0.986	D	0.84408	0.0564	10	0.87932	D	0	.	18.4886	0.90838	0.0:0.0:1.0:0.0	.	268;473;380;485;474;492	Q9UHD8-9;Q9UHD8-7;Q9UHD8-8;Q9UHD8-5;Q9UHD8-2;Q9UHD8	.;.;.;.;.;SEPT9_HUMAN	P	492;328;474;485;328;268;241;380	ENSP00000391249:R492P;ENSP00000400181:R328P;ENSP00000329161:R474P;ENSP00000405877:R485P;ENSP00000403194:R328P;ENSP00000415624:R380P	ENSP00000329161:R474P	R	+	2	0	SEPT9	73000392	1.000000	0.71417	0.994000	0.49952	0.826000	0.46750	9.646000	0.98474	2.430000	0.82344	0.437000	0.28790	CGG		0.557	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640	Missense_Mutation	59	170	0	0	0	0	59	170				
RPTOR	57521	broad.mit.edu	37	17	78820280	78820280	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:78820280C>T	ENST00000306801.3	+	11	1582	c.1220C>T	c.(1219-1221)cCg>cTg	p.P407L	RPTOR_ENST00000544334.2_Missense_Mutation_p.P407L|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000537330.1_Missense_Mutation_p.P222L	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	407					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CAGCACAGCCCGTTCTTCGCC	0.632																																						uc002jyt.1		NA																	0				lung(4)|urinary_tract(1)|ovary(1)	6						c.(1219-1221)CCG>CTG		raptor isoform 1							127.0	106.0	113.0					17																	78820280		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78820280C>T		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1220C>T	17.37:g.78820280C>T	ENSP00000307272:p.Pro407Leu					RPTOR_uc010wuf.1_Missense_Mutation_p.P222L|RPTOR_uc010wug.1_Missense_Mutation_p.P407L	p.P407L	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			11	2025	+			407					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.1220C>T	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390414	0.42410	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T;T	0.38240	1.15;1.15;1.15	4.92	4.92	0.64577	Armadillo-type fold (1);	0.149222	0.43747	D	0.000522	T	0.47377	0.1442	M	0.81802	2.56	0.80722	D	1	P;P;P	0.52170	0.941;0.951;0.543	B;B;B	0.44224	0.444;0.396;0.04	T	0.58250	-0.7669	10	0.52906	T	0.07	.	17.7008	0.88294	0.0:1.0:0.0:0.0	.	407;222;407	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	L	222;407;407	ENSP00000440947:P222L;ENSP00000307272:P407L;ENSP00000442479:P407L	ENSP00000307272:P407L	P	+	2	0	RPTOR	76434875	1.000000	0.71417	0.984000	0.44739	0.354000	0.29330	5.162000	0.64942	2.267000	0.75376	0.467000	0.42956	CCG		0.632	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		5	166	0	0	0	0	5	166				
LAMA1	284217	broad.mit.edu	37	18	6980533	6980533	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:6980533T>A	ENST00000389658.3	-	42	6087	c.5994A>T	c.(5992-5994)agA>agT	p.R1998S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1998	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TAGGAATTGCTCTAAGTATCA	0.373																																						uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(5992-5994)AGA>AGT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						192.0	165.0	174.0					18																	6980533		2201	4300	6501	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6980533T>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5994A>T	18.37:g.6980533T>A	ENSP00000374309:p.Arg1998Ser					LAMA1_uc010wzj.1_Missense_Mutation_p.R1474S	p.R1998S	NM_005559	NP_005550	P25391	LAMA1_HUMAN			42	6088	-		Colorectal(10;0.172)	1998			Domain II and I.			Missense_Mutation	SNP	ENST00000389658.3	37	c.5994A>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	4.192	0.034358	0.08101	.	.	ENSG00000101680	ENST00000389658	T	0.16897	2.31	5.15	3.95	0.45737	.	0.628623	0.15732	N	0.247380	T	0.09335	0.0230	N	0.26042	0.785	0.27025	N	0.964367	B	0.12630	0.006	B	0.08055	0.003	T	0.38824	-0.9643	10	0.05620	T	0.96	.	7.03	0.24962	0.1476:0.0:0.1544:0.6979	.	1998	P25391	LAMA1_HUMAN	S	1998	ENSP00000374309:R1998S	ENSP00000374309:R1998S	R	-	3	2	LAMA1	6970533	0.959000	0.32827	0.925000	0.36789	0.864000	0.49448	2.351000	0.44071	0.871000	0.35750	0.533000	0.62120	AGA		0.373	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		25	62	0	0	0	0	25	62				
PTPRM	5797	broad.mit.edu	37	18	8069752	8069752	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:8069752G>C	ENST00000332175.8	+	8	2238	c.1201G>C	c.(1201-1203)Gag>Cag	p.E401Q	PTPRM_ENST00000400060.4_Missense_Mutation_p.E401Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.E188Q|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400053.4_Missense_Mutation_p.E339Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.E401Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	401	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TATCCGCTGGGAGCCATTTGG	0.418																																						uc002knn.3		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(1201-1203)GAG>CAG		protein tyrosine phosphatase, receptor type, M							78.0	74.0	76.0					18																	8069752		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8069752G>C	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1201G>C	18.37:g.8069752G>C	ENSP00000331418:p.Glu401Gln					PTPRM_uc010dkv.2_Missense_Mutation_p.E401Q|PTPRM_uc010wzl.1_Missense_Mutation_p.E188Q	p.E401Q	NM_002845	NP_002836	P28827	PTPRM_HUMAN			8	1704	+		Colorectal(10;0.234)	401			Fibronectin type-III 2.|Extracellular (Potential).		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.1201G>C	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584501	0.65992	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.36	5.36	0.76844	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.106711	0.64402	D	0.000008	T	0.66307	0.2776	M	0.79123	2.44	0.54753	D	0.999981	P;B;B	0.49185	0.92;0.343;0.343	P;B;B	0.50314	0.637;0.082;0.082	T	0.68284	-0.5449	10	0.44086	T	0.13	.	19.0947	0.93246	0.0:0.0:1.0:0.0	.	188;401;401	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Q	401;401;339;188	ENSP00000331418:E401Q;ENSP00000382933:E401Q;ENSP00000382927:E339Q;ENSP00000387608:E188Q	ENSP00000331418:E401Q	E	+	1	0	PTPRM	8059752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.546000	0.82137	2.529000	0.85273	0.655000	0.94253	GAG		0.418	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			20	56	0	0	0	0	20	56				
NPC1	4864	broad.mit.edu	37	18	21136302	21136302	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:21136302G>A	ENST00000269228.5	-	8	1785	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.R161W	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	411					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGAGGGGCCCGGATGATGAGC	0.552																																						uc002kum.3		NA																	0				ovary(2)	2						c.(1231-1233)CGG>TGG		Niemann-Pick disease, type C1 precursor							84.0	79.0	81.0					18																	21136302		2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21136302G>A	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1231C>T	18.37:g.21136302G>A	ENSP00000269228:p.Arg411Trp					NPC1_uc010xaz.1_Missense_Mutation_p.R212W|NPC1_uc010xba.1_Missense_Mutation_p.R256W	p.R411W	NM_000271	NP_000262	O15118	NPC1_HUMAN			8	1505	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		411					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.1231C>T	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225244	0.58668	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.88586	-2.4;-2.4	5.45	3.54	0.40534	.	0.659654	0.15769	N	0.245512	D	0.87124	0.6099	L	0.40543	1.245	0.26378	N	0.976776	P;P	0.40398	0.716;0.716	P;B	0.44860	0.462;0.339	T	0.81226	-0.1029	10	0.66056	D	0.02	-6.5932	13.9676	0.64218	0.0:0.0:0.618:0.382	.	422;411	Q59GR1;O15118	.;NPC1_HUMAN	W	411;161;256	ENSP00000269228:R411W;ENSP00000408606:R161W	ENSP00000269228:R411W	R	-	1	2	NPC1	19390300	1.000000	0.71417	0.901000	0.35422	0.988000	0.76386	4.051000	0.57412	1.419000	0.47118	0.655000	0.94253	CGG		0.552	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		10	52	0	0	0	0	10	52				
ZNF521	25925	broad.mit.edu	37	18	22806498	22806498	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:22806498C>T	ENST00000361524.3	-	4	1532	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.A462T|ZNF521_ENST00000584787.1_Missense_Mutation_p.A242T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	462					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGGTCCTGAGCTTCATGCACT	0.463			T	PAX5	ALL																																	uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				ovary(4)|large_intestine(2)|lung(1)	7						c.(1384-1386)GCT>ACT		zinc finger protein 521							95.0	94.0	94.0					18																	22806498		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806498C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1384G>A	18.37:g.22806498C>T	ENSP00000354794:p.Ala462Thr					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.A462T|ZNF521_uc002kvl.2_Missense_Mutation_p.A242T	p.A462T	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	1631	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		462					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1384G>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572471	0.28092	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09255	3.0;3.0	6.06	5.14	0.70334	Zinc finger, C2H2 (1);	0.051410	0.85682	D	0.000000	T	0.07143	0.0181	N	0.14661	0.345	0.35654	D	0.812017	B	0.06786	0.001	B	0.04013	0.001	T	0.10337	-1.0634	10	0.72032	D	0.01	-12.8753	10.2398	0.43305	0.0:0.7932:0.1369:0.0699	.	462	Q96K83	ZN521_HUMAN	T	462;496;462	ENSP00000354794:A462T;ENSP00000382352:A462T	ENSP00000354794:A462T	A	-	1	0	ZNF521	21060496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.945000	0.49043	2.879000	0.98667	0.650000	0.86243	GCT		0.463	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		22	53	0	0	0	0	22	53				
CDH2	1000	broad.mit.edu	37	18	25585919	25585919	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:25585919C>T	ENST00000269141.3	-	6	1164	c.741G>A	c.(739-741)gtG>gtA	p.V247V	CDH2_ENST00000399380.3_Silent_p.V216V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	247	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGGGTTCTCCACTTGATTTC	0.368																																						uc002kwg.2		NA																	0				ovary(3)|lung(1)	4						c.(739-741)GTG>GTA		cadherin 2, type 1 preproprotein							125.0	111.0	116.0					18																	25585919		2203	4300	6503	SO:0001819	synonymous_variant	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25585919C>T	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.741G>A	18.37:g.25585919C>T						CDH2_uc010xbn.1_Silent_p.V216V	p.V247V	NM_001792	NP_001783	P19022	CADH2_HUMAN			6	1200	-			247			Cadherin 1.|Extracellular (Potential).		A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	ENST00000269141.3	37	c.741G>A	CCDS11891.1																																																																																				0.368	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		64	129	0	0	0	0	64	129				
DCC	1630	broad.mit.edu	37	18	50278744	50278744	+	Splice_Site	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:50278744G>T	ENST00000442544.2	+	2	1028	c.412G>T	c.(412-414)Gga>Tga	p.G138*	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	138					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCAGTAGCAGGTAGGTGGAT	0.403																																						uc002lfe.1		NA																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(412-414)GGA>TGA		netrin receptor DCC precursor							96.0	88.0	91.0					18																	50278744		2203	4300	6503	SO:0001630	splice_region_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50278744G>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.412+1G>T	18.37:g.50278744G>T						DCC_uc010xdr.1_5'UTR	p.G138*	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	2	999	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	138			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000442544.2	37	c.412G>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	36	5.699497	0.96802	.	.	ENSG00000187323	ENST00000442544;ENST00000304775	.	.	.	5.06	5.06	0.68205	.	0.069938	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	17.2004	0.86904	0.0:0.0:1.0:0.0	.	.	.	.	X	138;71	.	ENSP00000304146:G71X	G	+	1	0	DCC	48532742	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	9.457000	0.97630	2.354000	0.79902	0.655000	0.94253	GGA		0.403	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	Nonsense_Mutation	20	50	1	0	6.33e-15	7.87e-15	20	50				
CNDP1	84735	broad.mit.edu	37	18	72247436	72247436	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:72247436T>C	ENST00000358821.3	+	10	1466	c.1238T>C	c.(1237-1239)cTa>cCa	p.L413P	CNDP1_ENST00000582365.1_Missense_Mutation_p.L370P	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	413						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TCCATGACTCTAGGACTACAC	0.423																																					Melanoma(32;1029 1042 25286 38395 44237)	uc002llq.2		NA																	0					0						c.(1237-1239)CTA>CCA		carnosinase 1 precursor							123.0	115.0	118.0					18																	72247436		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72247436T>C		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.1238T>C	18.37:g.72247436T>C	ENSP00000351682:p.Leu413Pro					CNDP1_uc002lls.2_Missense_Mutation_p.L216P	p.L413P	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	10	1449	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	413					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.1238T>C	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	T	9.240	1.038028	0.19669	.	.	ENSG00000150656	ENST00000358821	T	0.14144	2.53	5.04	5.04	0.67666	.	0.149046	0.45606	D	0.000357	T	0.18087	0.0434	L	0.35593	1.075	0.27040	N	0.96403	D	0.62365	0.991	P	0.55577	0.779	T	0.05007	-1.0912	10	0.40728	T	0.16	-4.6234	9.2465	0.37529	0.1613:0.0:0.0:0.8387	.	413	Q96KN2	CNDP1_HUMAN	P	413	ENSP00000351682:L413P	ENSP00000351682:L413P	L	+	2	0	CNDP1	70398416	0.624000	0.27102	0.003000	0.11579	0.002000	0.02628	4.948000	0.63590	1.899000	0.54978	0.460000	0.39030	CTA		0.423	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		26	43	0	0	0	0	26	43				
NFATC1	4772	broad.mit.edu	37	18	77246597	77246597	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:77246597C>T	ENST00000427363.2	+	9	2442	c.2442C>T	c.(2440-2442)ccC>ccT	p.P814P	NFATC1_ENST00000545796.1_Silent_p.P342P|NFATC1_ENST00000397790.2_Silent_p.P342P|NFATC1_ENST00000318065.5_Silent_p.P801P|NFATC1_ENST00000329101.4_Silent_p.P801P|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000253506.5_Silent_p.P814P			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	814	Trans-activation domain B (TAD-B).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CCGGCTCGCCCGGGCAGCCAC	0.751																																					GBM(151;1210 2593 28719 45011)	uc010xfg.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(2440-2442)CCC>CCT		nuclear factor of activated T-cells, cytosolic							9.0	11.0	11.0					18																	77246597		2130	4169	6299	SO:0001819	synonymous_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77246597C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.2442C>T	18.37:g.77246597C>T						NFATC1_uc002lnd.2_Silent_p.P814P|NFATC1_uc002lne.2_Silent_p.P342P|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Silent_p.P342P|NFATC1_uc002lnf.2_Silent_p.P801P|NFATC1_uc002lng.2_Silent_p.P801P|NFATC1_uc010xfk.1_Intron	p.P814P	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	9	2895	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	814			Trans-activation domain B (TAD-B).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.2442C>T																																																																																					0.751	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		3	16	0	0	0	0	3	16				
AP3D1	8943	broad.mit.edu	37	19	2109208	2109208	+	Splice_Site	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:2109208T>C	ENST00000345016.5	-	28	3396		c.e28-2		AP3D1_ENST00000356926.4_Splice_Site|AP3D1_ENST00000355272.6_Splice_Site|AP3D1_ENST00000350812.6_Splice_Site	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		AAGGCGTCACTGTGGGAGGGA	0.582																																						uc002luz.2		NA																	0					0						c.e28-1		adaptor-related protein complex 3, delta 1							88.0	95.0	93.0					19																	2109208		2084	4214	6298	SO:0001630	splice_region_variant	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2109208T>C	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.3165-2A>G	19.37:g.2109208T>C						AP3D1_uc010dsv.2_Splice_Site_p.S145_splice|AP3D1_uc002luy.2_Splice_Site_p.S1014_splice|AP3D1_uc002lva.2_Splice_Site_p.S1117_splice	p.S1055_splice	NM_003938	NP_003929	O14617	AP3D1_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)	28	3388	-		Hepatocellular(1079;0.137)						O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Splice_Site	SNP	ENST00000345016.5	37	c.3165_splice	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.779270	0.70107	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3528	0.49598	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	AP3D1	2060208	1.000000	0.71417	0.943000	0.38184	0.792000	0.44763	7.711000	0.84669	1.716000	0.51395	0.459000	0.35465	.		0.582	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1		Intron	72	167	0	0	0	0	72	167				
DOT1L	84444	broad.mit.edu	37	19	2226522	2226522	+	Silent	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:2226522T>C	ENST00000398665.3	+	27	4038	c.4002T>C	c.(4000-4002)ggT>ggC	p.G1334G		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1334					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)			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)		TCAGTGATGGTGCTTCTCTTC	0.701																																						uc002lvb.3		NA																	0				pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(4000-4002)GGT>GGC		DOT1-like, histone H3 methyltransferase							17.0	22.0	20.0					19																	2226522		1899	4041	5940	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2226522T>C	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.4002T>C	19.37:g.2226522T>C						DOT1L_uc002lvc.1_Silent_p.G628G	p.G1334G	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)	27	4038	+		Hepatocellular(1079;0.137)	1334					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.4002T>C	CCDS42460.1																																																																																				0.701	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		6	55	0	0	0	0	6	55				
PLIN4	729359	broad.mit.edu	37	19	4504669	4504669	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:4504669C>T	ENST00000301286.3	-	6	3875	c.3876G>A	c.(3874-3876)cgG>cgA	p.R1292R		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1292						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGAGGCTGTGCCGCGCCCGCC	0.701																																						uc002mar.1		NA																	0					0						c.(3874-3876)CGG>CGA		plasma membrane associated protein, S3-12							8.0	10.0	9.0					19																	4504669		1984	4103	6087	SO:0001819	synonymous_variant	729359					lipid particle|plasma membrane		g.chr19:4504669C>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3876G>A	19.37:g.4504669C>T						PLIN4_uc010dub.1_Silent_p.R316R	p.R1292R	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN			6	3876	-			1292					A6NEI2	Silent	SNP	ENST00000301286.3	37	c.3876G>A	CCDS45927.1																																																																																				0.701	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		3	6	0	0	0	0	3	6				
EMR1	2015	broad.mit.edu	37	19	6913820	6913820	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:6913820G>T	ENST00000312053.4	+	11	1316	c.1279G>T	c.(1279-1281)Gct>Tct	p.A427S	EMR1_ENST00000381407.5_Missense_Mutation_p.A286S|EMR1_ENST00000250572.8_Missense_Mutation_p.A427S|EMR1_ENST00000381404.4_Missense_Mutation_p.A375S|EMR1_ENST00000450315.3_Missense_Mutation_p.A250S	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	427	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TATCACTCCGGCTGTTCGGAC	0.498																																						uc002mfw.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(1279-1281)GCT>TCT		egf-like module containing, mucin-like, hormone							141.0	129.0	133.0					19																	6913820		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6913820G>T	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1279G>T	19.37:g.6913820G>T	ENSP00000311545:p.Ala427Ser					EMR1_uc010dvc.2_Missense_Mutation_p.A427S|EMR1_uc010dvb.2_Missense_Mutation_p.A375S|EMR1_uc010xji.1_Missense_Mutation_p.A286S|EMR1_uc010xjj.1_Missense_Mutation_p.A250S	p.A427S	NM_001974	NP_001965	Q14246	EMR1_HUMAN			11	1317	+	all_hematologic(4;0.166)		427			Ser/Thr-rich.|Extracellular (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.1279G>T	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	7.489	0.650248	0.14516	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.77098	-1.04;-1.06;-1.07;0.11;0.44	4.95	3.94	0.45596	.	.	.	.	.	T	0.55162	0.1903	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.27450	0.171;0.179;0.114;0.07;0.07	B;B;B;B;B	0.30646	0.118;0.052;0.053;0.015;0.024	T	0.44498	-0.9324	9	0.08599	T	0.76	.	7.3455	0.26660	0.8983:0.0:0.1017:0.0	.	250;286;427;375;427	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	S	427;427;375;427;286;250	ENSP00000311545:A427S;ENSP00000370811:A375S;ENSP00000250572:A427S;ENSP00000370814:A286S;ENSP00000405974:A250S	ENSP00000250572:A427S	A	+	1	0	EMR1	6864820	0.030000	0.19436	0.003000	0.11579	0.002000	0.02628	0.994000	0.29693	0.750000	0.32877	-0.340000	0.08031	GCT		0.498	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			52	188	1	0	7.38e-41	9.87e-41	52	188				
CAMSAP3	57662	broad.mit.edu	37	19	7676418	7676418	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:7676418C>T	ENST00000160298.4	+	10	1240	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.S407F	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	380					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CTGAAGTCTTCCCCGTCCATG	0.642																																						uc002mgv.3		NA																	0				pancreas(1)	1						c.(1138-1140)TCC>TTC		NEZHA isoform 2							31.0	32.0	32.0					19																	7676418		1945	4126	6071	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7676418C>T	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.1139C>T	19.37:g.7676418C>T	ENSP00000160298:p.Ser380Phe					KIAA1543_uc002mgu.3_Missense_Mutation_p.S407F	p.S380F	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN			10	1240	+			380					Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.1139C>T	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	c	14.02	2.410764	0.42817	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.27720	1.66;1.65	4.98	4.98	0.66077	.	0.401896	0.28021	N	0.016915	T	0.51787	0.1695	M	0.65498	2.005	0.52501	D	0.999955	B;D	0.63880	0.136;0.993	B;P	0.61132	0.041;0.884	T	0.56432	-0.7980	10	0.87932	D	0	-18.0139	17.0287	0.86455	0.0:1.0:0.0:0.0	.	380;407	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	F	407;380	ENSP00000416797:S407F;ENSP00000160298:S380F	ENSP00000160298:S380F	S	+	2	0	KIAA1543	7582418	0.984000	0.35163	1.000000	0.80357	0.763000	0.43281	2.974000	0.49272	2.302000	0.77476	0.643000	0.83706	TCC		0.642	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		4	49	0	0	0	0	4	49				
FBN3	84467	broad.mit.edu	37	19	8138159	8138159	+	Silent	SNP	C	C	A	rs374904139		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:8138159C>A	ENST00000600128.1	-	62	8139	c.7725G>T	c.(7723-7725)tcG>tcT	p.S2575S	FBN3_ENST00000270509.2_Silent_p.S2575S|FBN3_ENST00000601739.1_Silent_p.S2575S			Q75N90	FBN3_HUMAN	fibrillin 3	2575	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGTGGGGGGCGACAGGGCAC	0.657																																						uc002mjf.2		NA																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(7723-7725)TCG>TCT		fibrillin 3 precursor							29.0	31.0	30.0					19																	8138159		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8138159C>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7725G>T	19.37:g.8138159C>A						FBN3_uc002mje.2_Silent_p.S371S	p.S2575S	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			61	7746	-			2575			EGF-like 43; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.7725G>T	CCDS12196.1																																																																																				0.657	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		5	52	1	0	0.00116845	0.00122852	5	52				
OR7D4	125958	broad.mit.edu	37	19	9324750	9324750	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:9324750C>A	ENST00000308682.2	-	1	792	c.764G>T	c.(763-765)gGa>gTa	p.G255V		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GACCCCAAGTCCTGTTCCATA	0.537																																						uc002mla.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(763-765)GGA>GTA		olfactory receptor, family 7, subfamily D,							64.0	59.0	61.0					19																	9324750		2203	4300	6503	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9324750C>A		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.764G>T	19.37:g.9324750C>A	ENSP00000310488:p.Gly255Val						p.G255V	NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN			1	764	-			255			Helical; Name=6; (Potential).		A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.764G>T	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	C	4.065	0.009829	0.07912	.	.	ENSG00000174667	ENST00000308682	T	0.00076	8.76	3.84	-1.5	0.08691	GPCR, rhodopsin-like superfamily (1);	0.868012	0.09867	N	0.745435	T	0.00109	0.0003	N	0.16656	0.425	0.09310	N	1	B	0.31893	0.345	B	0.36922	0.236	T	0.01048	-1.1469	10	0.30854	T	0.27	.	4.1051	0.10033	0.1528:0.3017:0.4499:0.0956	.	255	Q8NG98	OR7D4_HUMAN	V	255	ENSP00000310488:G255V	ENSP00000310488:G255V	G	-	2	0	OR7D4	9185750	0.000000	0.05858	0.002000	0.10522	0.273000	0.26683	-2.697000	0.00826	-0.208000	0.10171	0.205000	0.17691	GGA		0.537	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			19	85	1	0	5.35e-07	6.13e-07	19	85				
SMARCA4	6597	broad.mit.edu	37	19	11144078	11144078	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:11144078A>G	ENST00000429416.3	+	27	3940	c.3659A>G	c.(3658-3660)tAc>tGc	p.Y1220C	SMARCA4_ENST00000589677.1_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000358026.2_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.Y1220C	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1220	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCAGCCAAGTACAAGCTCAAC	0.632			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NA		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)		lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(3658-3660)TAC>TGC		SWI/SNF-related matrix-associated							126.0	122.0	123.0					19																	11144078		2203	4300	6503	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11144078A>G	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3659A>G	19.37:g.11144078A>G	ENSP00000395654:p.Tyr1220Cys					SMARCA4_uc010dxp.2_Missense_Mutation_p.Y1220C|SMARCA4_uc010dxo.2_Missense_Mutation_p.Y1220C|SMARCA4_uc010dxq.2_Missense_Mutation_p.Y1220C|SMARCA4_uc010dxr.2_Missense_Mutation_p.Y1220C|SMARCA4_uc002mqj.3_Missense_Mutation_p.Y1220C|SMARCA4_uc010dxs.2_Missense_Mutation_p.Y1220C|SMARCA4_uc010dxt.1_Missense_Mutation_p.Y440C|SMARCA4_uc002mqh.3_Missense_Mutation_p.Y343C|SMARCA4_uc002mqi.1_Missense_Mutation_p.Y423C	p.Y1220C	NM_003072	NP_003063	P51532	SMCA4_HUMAN			26	3943	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1220			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3659A>G	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.363281	0.61513	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;D;D;D;D	0.95447	-0.95;-0.95;-0.95;-3.71;-3.71;-3.71;-3.71	4.74	4.74	0.60224	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97068	0.9042	M	0.75884	2.315	0.58432	D	0.999998	P;P;P;B;D;B;P	0.76494	0.784;0.898;0.898;0.034;0.999;0.091;0.898	B;B;B;B;D;B;B	0.68765	0.41;0.41;0.41;0.059;0.96;0.043;0.41	D	0.97303	0.9932	10	0.59425	D	0.04	-31.9984	13.3948	0.60846	1.0:0.0:0.0:0.0	.	1220;1220;1220;1220;1220;440;1220	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	C	1220;1220;1284;1220;1220;1220;1220;1220	ENSP00000395654:Y1220C;ENSP00000350720:Y1220C;ENSP00000343896:Y1220C;ENSP00000445036:Y1220C;ENSP00000392837:Y1220C;ENSP00000397783:Y1220C;ENSP00000414727:Y1220C	ENSP00000343896:Y1220C	Y	+	2	0	SMARCA4	11005078	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.769000	0.91742	2.012000	0.59069	0.456000	0.33151	TAC		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		24	130	0	0	0	0	24	130				
ZNF429	353088	broad.mit.edu	37	19	21720875	21720875	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:21720875G>T	ENST00000358491.4	+	4	2228	c.2020G>T	c.(2020-2022)Ggc>Tgc	p.G674C	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	674					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(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						agaccgtcctggctaacatgg	0.493																																						uc002nqd.1		NA																	0				ovary(2)	2						c.(2020-2022)GGC>TGC		zinc finger protein 429							13.0	13.0	13.0					19																	21720875		1835	4068	5903	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720875G>T	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.2020G>T	19.37:g.21720875G>T	ENSP00000351280:p.Gly674Cys					ZNF429_uc010ecu.1_Intron	p.G674C	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN			4	2157	+			674					A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.2020G>T	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	9.093	1.002184	0.19121	.	.	ENSG00000197013	ENST00000358491	T	0.08008	3.14	0.717	-0.46	0.12175	.	.	.	.	.	T	0.12817	0.0311	M	0.67397	2.05	0.09310	N	1	D	0.64830	0.994	P	0.51415	0.669	T	0.16778	-1.0391	9	0.87932	D	0	.	1.8953	0.03256	0.4412:0.0:0.2886:0.2702	.	674	Q86V71	ZN429_HUMAN	C	674	ENSP00000351280:G674C	ENSP00000351280:G674C	G	+	1	0	ZNF429	21512715	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-1.118000	0.03280	-0.147000	0.11254	0.479000	0.44913	GGC		0.493	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		3	18	1	0	0.004672	0.00487777	3	18				
ZNF43	7594	broad.mit.edu	37	19	21992324	21992324	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:21992324T>G	ENST00000354959.4	-	4	684	c.515A>C	c.(514-516)aAa>aCa	p.K172T	ZNF43_ENST00000595461.1_Missense_Mutation_p.K166T|ZNF43_ENST00000594012.1_Missense_Mutation_p.K166T|ZNF43_ENST00000598381.1_Missense_Mutation_p.K166T	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTTGAAAAGTTTTTTTTCAGT	0.313																																						uc002nqj.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(514-516)AAA>ACA		zinc finger protein 43							37.0	37.0	37.0					19																	21992324		2202	4296	6498	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21992324T>G	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.515A>C	19.37:g.21992324T>G	ENSP00000347045:p.Lys172Thr					ZNF43_uc010ecv.2_Missense_Mutation_p.K166T|ZNF43_uc002nql.2_Missense_Mutation_p.K166T|ZNF43_uc002nqm.2_Missense_Mutation_p.K166T|ZNF43_uc002nqk.2_Missense_Mutation_p.K102T	p.K172T	NM_003423	NP_003414	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	4	645	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	172					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.515A>C	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	T	11.62	1.693934	0.30052	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.24908	1.83	1.5	0.363	0.16118	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47783	0.1464	M	0.82630	2.6	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.27938	-1.0059	9	0.87932	D	0	.	5.5451	0.17059	0.0:0.1652:0.0:0.8348	.	172	P17038	ZNF43_HUMAN	T	171;172	ENSP00000347045:K172T	ENSP00000347045:K172T	K	-	2	0	ZNF43	21784164	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-0.010000	0.12743	-0.121000	0.11787	-0.532000	0.04303	AAA		0.313	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		4	61	0	0	0	0	4	61				
ZNF676	163223	broad.mit.edu	37	19	22363959	22363959	+	Missense_Mutation	SNP	T	T	C	rs371456888|rs386807906	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:22363959T>C	ENST00000397121.2	-	3	877	c.560A>G	c.(559-561)tAt>tGt	p.Y187C		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	187				TLTYYKSI -> NLMEHKRV (in Ref. 2; BAC05174). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|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)				AATACTCTTATAATAAGTAAG	0.338													T|||	3	0.000599042	0.0023	0.0	5008	,	,		21720	0.0		0.0	False		,,,				2504	0.0					uc002nqs.1		NA																	0					0						c.(559-561)TAT>TGT		zinc finger protein 676		T	CYS/TYR	5,3995		0,5,1995	52.0	55.0	54.0		560	0.4	0.0	19		54	0,8410		0,0,4205	no	missense	ZNF676	NM_001001411.2	194	0,5,6200	CC,CT,TT		0.0,0.125,0.0403	benign	187/589	22363959	5,12405	2000	4205	6205	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363959T>C	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.560A>G	19.37:g.22363959T>C	ENSP00000380310:p.Tyr187Cys						p.Y187C	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	878	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	187	TLTYYKSI -> NLMEHKRV (in Ref. 2; BAC05174).		C2H2-type 1; degenerate.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.560A>G	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	5.953	0.359755	0.11239	0.00125	0.0	ENSG00000196109	ENST00000397121	T	0.17854	2.25	0.45	0.45	0.16624	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28433	0.0703	L	0.45581	1.43	0.09310	N	1	P	0.45474	0.859	D	0.63113	0.911	T	0.11421	-1.0588	9	0.87932	D	0	.	6.4905	0.22113	0.0:0.0:0.0:1.0	.	187	Q8N7Q3	ZN676_HUMAN	C	187	ENSP00000380310:Y187C	ENSP00000380310:Y187C	Y	-	2	0	ZNF676	22155799	0.852000	0.29690	0.001000	0.08648	0.007000	0.05969	3.496000	0.53288	0.409000	0.25649	0.164000	0.16699	TAT		0.338	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		28	158	0	0	0	0	28	158				
ZNF99	7652	broad.mit.edu	37	19	22939865	22939865	+	IGR	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:22939865T>C	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Silent_p.L822L	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAGTATGAATTAGCTTATGTT	0.373																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(2464-2466)CTA>CTG		zinc finger protein 99							89.0	100.0	96.0					19																	22939865		2078	4236	6314	SO:0001628	intergenic_variant	7652							g.chr19:22939865T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939865T>C							p.L822L	NM_001080409	NP_001073878					6	2466	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.2466A>G	CCDS59369.1																																																																																				0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		27	147	0	0	0	0	27	147				
ZNF536	9745	broad.mit.edu	37	19	31039729	31039729	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:31039729T>C	ENST00000355537.3	+	4	3350	c.3203T>C	c.(3202-3204)aTg>aCg	p.M1068T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1068					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTCTCCAATATGATCAGCTCT	0.562																																						uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(3202-3204)ATG>ACG		zinc finger protein 536							59.0	62.0	61.0					19																	31039729		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039729T>C		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3203T>C	19.37:g.31039729T>C	ENSP00000347730:p.Met1068Thr					ZNF536_uc010edd.1_Missense_Mutation_p.M1068T	p.M1068T	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3341	+	Esophageal squamous(110;0.0834)		1068					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.3203T>C	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.105458	0.00033	.	.	ENSG00000198597	ENST00000355537	T	0.07021	3.23	5.74	3.59	0.41128	.	0.918089	0.09616	N	0.778275	T	0.04998	0.0134	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46911	-0.9157	10	0.23302	T	0.38	-1.0E-4	6.8378	0.23945	0.0:0.2086:0.0:0.7914	.	1068;1068	A7E228;O15090	.;ZN536_HUMAN	T	1068	ENSP00000347730:M1068T	ENSP00000347730:M1068T	M	+	2	0	ZNF536	35731569	0.008000	0.16893	0.000000	0.03702	0.003000	0.03518	0.896000	0.28377	0.455000	0.26910	0.533000	0.62120	ATG		0.562	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		24	108	0	0	0	0	24	108				
GPI	2821	broad.mit.edu	37	19	34887334	34887334	+	Splice_Site	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:34887334A>T	ENST00000356487.5	+	13	1432	c.1191A>T	c.(1189-1191)caA>caT	p.Q397H	GPI_ENST00000415930.3_Splice_Site_p.Q408H|GPI_ENST00000586425.1_Splice_Site_p.Q397H	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	397					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TCATCCACCAAGGTAGGCCCC	0.567																																						uc002nvg.1		NA																	0				ovary(1)|kidney(1)	2						c.(1189-1191)CAA>CAT		glucose phosphate isomerase							54.0	53.0	54.0					19																	34887334		2203	4300	6503	SO:0001630	splice_region_variant	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34887334A>T	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1192+1A>T	19.37:g.34887334A>T						GPI_uc002nvf.2_Missense_Mutation_p.Q436H|GPI_uc010xrv.1_Missense_Mutation_p.Q408H|GPI_uc010xrw.1_Missense_Mutation_p.Q369H|GPI_uc010edl.1_Missense_Mutation_p.Q397H|GPI_uc002nvi.1_Missense_Mutation_p.Q60H	p.Q397H	NM_000175	NP_000166	P06744	G6PI_HUMAN			13	1294	+	Esophageal squamous(110;0.162)		397					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.1191A>T	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.991083	0.74703	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.95103	-3.61;-3.61	5.46	4.24	0.50183	.	0.000000	0.85682	D	0.000000	D	0.97945	0.9324	H	0.97103	3.94	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.996;1.0	D;D;D;D	0.80764	0.982;0.983;0.987;0.994	D	0.98383	1.0559	10	0.87932	D	0	-8.0232	11.3319	0.49482	0.8715:0.0:0.1285:0.0	.	369;408;370;397	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	H	408;397	ENSP00000405573:Q408H;ENSP00000348877:Q397H	ENSP00000348877:Q397H	Q	+	3	2	GPI	39579174	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.471000	0.60182	2.069000	0.61940	0.454000	0.30748	CAA		0.567	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3		Missense_Mutation	44	108	0	0	0	0	44	108				
FFAR1	2864	broad.mit.edu	37	19	35842987	35842987	+	Missense_Mutation	SNP	C	C	G	rs143187042		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:35842987C>G	ENST00000246553.2	+	1	543	c.533C>G	c.(532-534)tCt>tGt	p.S178C		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	178					energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|positive regulation of GTPase activity (GO:0043547)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GACCCGGCCTCTGCCGGCCCG	0.677																																						uc002nzc.2		NA																	0				central_nervous_system(1)	1						c.(532-534)TCT>TGT		free fatty acid receptor 1	Icosapent(DB00159)						27.0	30.0	29.0					19																	35842987		2202	4299	6501	SO:0001583	missense	2864				energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding	g.chr19:35842987C>G	AF024687	CCDS12458.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000126266	ENSG00000126266		"""GPCR / Class A : Fatty acid receptors"""	4498	protein-coding gene	gene with protein product		603820	"""G protein-coupled receptor 40"""	GPR40		15684720	Standard	NM_005303		Approved	FFA1R	uc002nzc.2	O14842		ENST00000246553.2:c.533C>G	19.37:g.35842987C>G	ENSP00000246553:p.Ser178Cys						p.S178C	NM_005303	NP_005294	O14842	FFAR1_HUMAN	Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		1	543	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		178			Extracellular (Potential).		Q0VAS2|Q4VBL4	Missense_Mutation	SNP	ENST00000246553.2	37	c.533C>G	CCDS12458.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142094	0.37825	.	.	ENSG00000126266	ENST00000246553	T	0.37915	1.17	3.8	1.36	0.22044	GPCR, rhodopsin-like superfamily (1);	0.326187	0.23859	U	0.043879	T	0.31765	0.0807	L	0.29908	0.895	0.09310	N	1	P	0.49696	0.927	P	0.54706	0.759	T	0.04946	-1.0916	10	0.38643	T	0.18	-5.5212	3.934	0.09298	0.0:0.5721:0.1988:0.2291	.	178	O14842	FFAR1_HUMAN	C	178	ENSP00000246553:S178C	ENSP00000246553:S178C	S	+	2	0	FFAR1	40534827	0.000000	0.05858	0.002000	0.10522	0.882000	0.50991	0.437000	0.21543	0.906000	0.36621	0.561000	0.74099	TCT		0.677	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466112.2	NM_005303		11	70	0	0	0	0	11	70				
SIPA1L3	23094	broad.mit.edu	37	19	38572979	38572979	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:38572979G>T	ENST00000222345.6	+	3	1283	c.774G>T	c.(772-774)aaG>aaT	p.K258N		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	258					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCGGAGCCAAGGGGGACTCCC	0.721																																						uc002ohk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(772-774)AAG>AAT		signal-induced proliferation-associated 1 like							8.0	10.0	9.0					19																	38572979		1860	3697	5557	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38572979G>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.774G>T	19.37:g.38572979G>T	ENSP00000222345:p.Lys258Asn						p.K258N	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	1283	+			258					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.774G>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	2.184	-0.386907	0.04966	.	.	ENSG00000105738	ENST00000222345	T	0.76448	-1.02	5.11	1.82	0.25136	.	0.366971	0.22284	N	0.062099	T	0.60483	0.2272	N	0.22421	0.69	0.09310	N	1	B	0.23735	0.09	B	0.18263	0.021	T	0.43228	-0.9404	10	0.23891	T	0.37	-27.1057	9.8459	0.41026	0.2245:0.0:0.7755:0.0	.	258	O60292	SI1L3_HUMAN	N	258	ENSP00000222345:K258N	ENSP00000222345:K258N	K	+	3	2	SIPA1L3	43264819	0.998000	0.40836	0.352000	0.25734	0.015000	0.08874	1.212000	0.32394	0.197000	0.20387	-0.244000	0.11960	AAG		0.721	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		9	21	1	0	9.7e-10	1.15e-09	9	21				
ZNF526	116115	broad.mit.edu	37	19	42730364	42730364	+	Silent	SNP	A	A	G	rs145952747		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:42730364A>G	ENST00000301215.3	+	3	2034	c.1809A>G	c.(1807-1809)ctA>ctG	p.L603L		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	603					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CTTTGACGCTACAGCCTCCCA	0.617																																						uc002osz.1		NA																	0					0						c.(1807-1809)CTA>CTG		zinc finger protein 526		A		0,4406		0,0,2203	87.0	84.0	85.0		1809	-6.5	0.0	19	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF526	NM_133444.1		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		603/671	42730364	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42730364A>G	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1809A>G	19.37:g.42730364A>G							p.L603L	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN			3	1965	+		Prostate(69;0.0704)	603					B3KV29|Q69YI2|Q96E24	Silent	SNP	ENST00000301215.3	37	c.1809A>G	CCDS12598.1																																																																																				0.617	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		25	104	0	0	0	0	25	104				
LILRB3	11025	broad.mit.edu	37	19	54723084	54723084	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:54723084C>G	ENST00000391750.1	-	9	1476	c.1340G>C	c.(1339-1341)gGg>gCg	p.G447A	LILRA6_ENST00000419410.2_Missense_Mutation_p.G447A|LILRA6_ENST00000440558.2_Missense_Mutation_p.G447A|LILRB3_ENST00000407860.2_Missense_Mutation_p.G464A|LILRB3_ENST00000245620.9_Missense_Mutation_p.G447A|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Missense_Mutation_p.G447A|LILRB3_ENST00000424807.1_Missense_Mutation_p.G447A|LILRB3_ENST00000346401.6_Missense_Mutation_p.G459A|LILRB3_ENST00000469273.1_5'UTR			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	447					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACCGAGACCCCAATCAAAAC	0.562																																						uc002qef.1		NA																	0		p.G447R(1)		skin(2)|ovary(1)	3						c.(1339-1341)GGG>GCG		leukocyte immunoglobulin-like receptor,							233.0	163.0	187.0					19																	54723084		2202	4300	6502	SO:0001583	missense	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54723084C>G	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1340G>C	19.37:g.54723084C>G	ENSP00000375630:p.Gly447Ala					LILRB3_uc002qee.1_Missense_Mutation_p.G447A|LILRB3_uc002qeh.1_Missense_Mutation_p.G447A|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.G447A|LILRA6_uc002qek.1_Missense_Mutation_p.G447A|LILRB3_uc010erh.1_Missense_Mutation_p.G464A|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.G447A|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.G447A|LILRB3_uc002qep.1_Missense_Mutation_p.G447A|LILRB3_uc002qeq.1_Missense_Mutation_p.G447A|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.G447A	p.G447A	NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	8	1451	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		447			Helical; (Potential).		C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	c.1340G>C	CCDS33105.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330196	0.24167	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	T;T;T;T;T;T;T;T	0.00574	6.56;6.56;6.66;6.58;6.47;6.63;6.6;6.57	2.53	2.53	0.30540	.	2571.270000	0.00357	N	0.000025	T	0.02193	0.0068	M	0.89287	3.02	0.28414	N	0.918067	P;B;B;B;B;B;B	0.35124	0.485;0.021;0.002;0.216;0.01;0.012;0.001	B;B;B;B;B;B;B	0.42422	0.387;0.021;0.003;0.108;0.021;0.004;0.003	T	0.49263	-0.8958	10	0.66056	D	0.02	.	8.8649	0.35280	0.0:1.0:0.0:0.0	.	464;447;447;459;464;447;447	B5MCX0;F8WCY4;D3YTC4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;.;LIRB3_HUMAN;.	A	447;447;459;447;464;447;447;447	ENSP00000375630:G447A;ENSP00000412771:G447A;ENSP00000345184:G459A;ENSP00000245620:G447A;ENSP00000384274:G464A;ENSP00000390120:G447A;ENSP00000270464:G447A;ENSP00000411227:G447A	ENSP00000270464:G447A	G	-	2	0	LILRB3;LILRA6	59414896	0.001000	0.12720	0.029000	0.17559	0.011000	0.07611	0.802000	0.27069	1.764000	0.52075	0.447000	0.29281	GGG		0.562	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		7	12	0	0	0	0	7	12				
LILRA4	23547	broad.mit.edu	37	19	54849458	54849458	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:54849458G>C	ENST00000291759.4	-	4	460	c.404C>G	c.(403-405)tCa>tGa	p.S135*	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	135	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTTCACTCCTGAGGTCACCAC	0.582																																						uc002qfj.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(403-405)TCA>TGA		leukocyte immunoglobulin-like receptor subfamily							56.0	57.0	57.0					19																	54849458		2203	4300	6503	SO:0001587	stop_gained	23547					integral to membrane	receptor activity	g.chr19:54849458G>C	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.404C>G	19.37:g.54849458G>C	ENSP00000291759:p.Ser135*					LILRA4_uc002qfi.2_Nonsense_Mutation_p.S69*	p.S135*	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	4	461	-	Ovarian(34;0.19)		135			Extracellular (Potential).|Ig-like C2-type 2.		Q32MC4	Nonsense_Mutation	SNP	ENST00000291759.4	37	c.404C>G	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	11.03	1.517716	0.27123	.	.	ENSG00000239961	ENST00000291759	.	.	.	2.65	2.65	0.31530	.	0.914011	0.09131	N	0.844350	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	8.9416	0.35733	0.0:0.0:1.0:0.0	.	.	.	.	X	135	.	ENSP00000291759:S135X	S	-	2	0	LILRA4	59541270	0.030000	0.19436	0.889000	0.34880	0.017000	0.09413	0.688000	0.25422	1.795000	0.52594	0.563000	0.77884	TCA		0.582	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		10	95	0	0	0	0	10	95				
ZSCAN1	284312	broad.mit.edu	37	19	58565248	58565248	+	Silent	SNP	C	C	A	rs374905480		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:58565248C>A	ENST00000282326.1	+	6	1303	c.1056C>A	c.(1054-1056)ccC>ccA	p.P352P		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	352					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGAAAGCCCCCCGGAGCAAGG	0.662																																						uc002qrc.1		NA																	0				ovary(2)	2						c.(1054-1056)CCC>CCA		zinc finger and SCAN domain containing 1		C		1,4405	2.1+/-5.4	0,1,2202	37.0	37.0	37.0		1056	-1.4	0.0	19		37	0,8600		0,0,4300	no	coding-synonymous	ZSCAN1	NM_182572.3		0,1,6502	AA,AC,CC		0.0,0.0227,0.0077		352/409	58565248	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565248C>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.1056C>A	19.37:g.58565248C>A							p.P352P	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1303	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	352					Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	37	c.1056C>A	CCDS12969.1																																																																																				0.662	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		11	65	1	0	1.59e-06	1.8e-06	11	65				
A1BG	1	broad.mit.edu	37	19	58864486	58864486	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:58864486G>A	ENST00000263100.3	-	3	209	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	50	Ig-like V-type 1.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		AGGTGGGCCTGGCACGTCAGC	0.592																																						uc002qsd.3		NA																	0					0						c.(148-150)CAG>TAG		alpha 1B-glycoprotein precursor							102.0	97.0	99.0					19																	58864486		2203	4300	6503	SO:0001587	stop_gained	1					extracellular region		g.chr19:58864486G>A		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.148C>T	19.37:g.58864486G>A	ENSP00000263100:p.Gln50*					NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_Intron	p.Q50*	NM_130786	NP_570602	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	3	210	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	50			Ig-like V-type 1.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Nonsense_Mutation	SNP	ENST00000263100.3	37	c.148C>T	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872720	0.72180	.	.	ENSG00000121410	ENST00000263100	.	.	.	3.32	3.32	0.38043	.	1.669100	0.03622	N	0.236594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	10.4164	0.44325	0.0:0.0:1.0:0.0	.	.	.	.	X	50	.	ENSP00000263100:Q50X	Q	-	1	0	A1BG	63556298	0.881000	0.30235	0.184000	0.23157	0.160000	0.22226	0.713000	0.25794	2.152000	0.67230	0.563000	0.77884	CAG		0.592	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		94	96	0	0	0	0	94	96				
SOX11	6664	broad.mit.edu	37	2	5832931	5832931	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:5832931C>T	ENST00000322002.3	+	1	133	c.78C>T	c.(76-78)ttC>ttT	p.F26F	AC108025.2_ENST00000420221.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	26					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGGGCGAATTCATGGCTTGCA	0.657																																						uc002qyj.2		NA																	0				central_nervous_system(3)	3						c.(76-78)TTC>TTT		SRY-box 11							33.0	34.0	33.0					2																	5832931		2203	4300	6503	SO:0001819	synonymous_variant	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5832931C>T		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.78C>T	2.37:g.5832931C>T							p.F26F	NM_003108	NP_003099	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	133	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		26					Q4ZFV8	Silent	SNP	ENST00000322002.3	37	c.78C>T	CCDS1654.1																																																																																				0.657	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		5	18	0	0	0	0	5	18				
NBAS	51594	broad.mit.edu	37	2	15567910	15567910	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:15567910C>A	ENST00000281513.5	-	22	2373	c.2348G>T	c.(2347-2349)gGt>gTt	p.G783V	NBAS_ENST00000441750.1_Missense_Mutation_p.G783V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	783					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAGGGAGTCACCGTTAAAACT	0.398																																						uc002rcc.1		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(2347-2349)GGT>GTT		neuroblastoma-amplified protein							60.0	55.0	57.0					2																	15567910		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15567910C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2348G>T	2.37:g.15567910C>A	ENSP00000281513:p.Gly783Val					NBAS_uc002rcd.1_RNA	p.G783V	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			22	2374	-			783					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.2348G>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075132	0.36566	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.16457	2.34;2.34	5.42	0.177	0.15054	Secretory pathway Sec39 (1);	0.613023	0.18299	N	0.145479	T	0.07098	0.0180	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.12837	0.008	T	0.25813	-1.0121	10	0.87932	D	0	.	4.112	0.10063	0.0:0.3309:0.3301:0.339	.	783	A2RRP1	NBAS_HUMAN	V	783	ENSP00000413201:G783V;ENSP00000281513:G783V	ENSP00000281513:G783V	G	-	2	0	NBAS	15485361	0.001000	0.12720	0.091000	0.20842	0.249000	0.25844	0.231000	0.17872	0.332000	0.23536	0.591000	0.81541	GGT		0.398	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		6	27	1	0	0.00116845	0.00122852	6	27				
AGBL5	60509	broad.mit.edu	37	2	27281352	27281352	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:27281352C>T	ENST00000360131.4	+	10	1915	c.1756C>T	c.(1756-1758)Ctt>Ttt	p.L586F	AGBL5_ENST00000323064.8_Missense_Mutation_p.L586F|AGBL5-IT1_ENST00000411862.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	586					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACAGCAGCCTTACTAATCT	0.557																																						uc002rie.2		NA																	0				ovary(1)|breast(1)	2						c.(1756-1758)CTT>TTT		ATP/GTP binding protein-like 5 isoform 1							140.0	119.0	126.0					2																	27281352		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27281352C>T	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1756C>T	2.37:g.27281352C>T	ENSP00000353249:p.Leu586Phe					AGBL5_uc002rid.2_Missense_Mutation_p.L586F|AGBL5_uc002rif.2_RNA	p.L586F	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN			10	1973	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		586					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.1756C>T	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	32	5.113743	0.94339	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.39592	1.07;1.07	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65138	-0.6241	10	0.72032	D	0.01	-8.4836	19.635	0.95728	0.0:1.0:0.0:0.0	.	586;586	Q8NDL9;Q8NDL9-3	CBPC5_HUMAN;.	F	586	ENSP00000323681:L586F;ENSP00000353249:L586F	ENSP00000323681:L586F	L	+	1	0	AGBL5	27134856	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.623000	0.67757	2.733000	0.93635	0.655000	0.94253	CTT		0.557	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		47	115	0	0	0	0	47	115				
BIRC6	57448	broad.mit.edu	37	2	32770763	32770763	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:32770763G>T	ENST00000421745.2	+	63	12780	c.12646G>T	c.(12646-12648)Gtc>Ttc	p.V4216F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4216					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCCTTTCCACGTCCTTCGTAG	0.413																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(12646-12648)GTC>TTC		baculoviral IAP repeat-containing 6							300.0	271.0	281.0					2																	32770763		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32770763G>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12646G>T	2.37:g.32770763G>T	ENSP00000393596:p.Val4216Phe						p.V4216F	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			63	12780	+	Acute lymphoblastic leukemia(172;0.155)		4216					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.12646G>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	32	5.185762	0.94885	.	.	ENSG00000115760	ENST00000421745	T	0.80304	-1.36	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.88437	0.6436	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.89304	0.3628	10	0.87932	D	0	.	19.0814	0.93185	0.0:0.0:1.0:0.0	.	4216	Q9NR09	BIRC6_HUMAN	F	4216	ENSP00000393596:V4216F	ENSP00000393596:V4216F	V	+	1	0	BIRC6	32624267	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.865000	0.99609	2.487000	0.83934	0.586000	0.80456	GTC		0.413	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		92	286	1	0	1.12e-47	1.51e-47	92	286				
SIX2	10736	broad.mit.edu	37	2	45233600	45233600	+	Silent	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:45233600A>G	ENST00000303077.6	-	2	904	c.585T>C	c.(583-585)tcT>tcC	p.S195S		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	195					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTGGCTGTTAGAATTGGAGT	0.587																																						uc002ruo.2		NA																	0				pancreas(1)	1						c.(583-585)TCT>TCC		SIX homeobox 2							104.0	102.0	103.0					2																	45233600		2203	4300	6503	SO:0001819	synonymous_variant	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45233600A>G	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"""Homeoboxes / SINE class"""	10888	protein-coding gene	gene with protein product		604994	"""sine oculis homeobox (Drosophila) homolog 2"", ""sine oculis homeobox homolog 2 (Drosophila)"""				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.585T>C	2.37:g.45233600A>G						SIX2_uc002rup.2_Silent_p.S197S	p.S195S	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN			2	878	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	195					Q9BXH7	Silent	SNP	ENST00000303077.6	37	c.585T>C	CCDS1822.1																																																																																				0.587	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			21	185	0	0	0	0	21	185				
ALMS1	7840	broad.mit.edu	37	2	73747023	73747023	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:73747023A>G	ENST00000264448.6	+	11	9769	c.9658A>G	c.(9658-9660)Aat>Gat	p.N3220D	ALMS1_ENST00000409009.1_Missense_Mutation_p.N3178D	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3220					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GATTTTTATTAATGCTGAAGA	0.403																																						uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(9664-9666)AAT>GAT		Alstrom syndrome 1							112.0	107.0	108.0					2																	73747023		1822	4071	5893	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73747023A>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.9658A>G	2.37:g.73747023A>G	ENSP00000264448:p.Asn3220Asp					ALMS1_uc002sjf.1_Missense_Mutation_p.N3178D|ALMS1_uc002sjg.2_Missense_Mutation_p.N2608D|ALMS1_uc002sjh.1_Missense_Mutation_p.N2608D|ALMS1_uc010fev.1_Missense_Mutation_p.N37D	p.N3222D	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			13	9775	+			3220					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.9664A>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026691	0.75390	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06687	3.27;3.27	5.62	4.45	0.53987	.	0.249318	0.28889	N	0.013811	T	0.18676	0.0448	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.71674	0.965;0.998;0.998;0.998	P;D;D;D	0.66979	0.786;0.948;0.948;0.948	T	0.00641	-1.1631	10	0.41790	T	0.15	.	10.1706	0.42908	0.8333:0.1667:0.0:0.0	.	3220;3220;3178;3220	D6W5H5;Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;.;ALMS1_HUMAN	D	3178;3220	ENSP00000386627:N3178D;ENSP00000264448:N3220D	ENSP00000264448:N3220D	N	+	1	0	ALMS1	73600531	0.997000	0.39634	1.000000	0.80357	0.969000	0.65631	3.322000	0.52007	1.040000	0.40099	0.528000	0.53228	AAT		0.403	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		28	179	0	0	0	0	28	179				
Unknown	0	broad.mit.edu	37	2	73927774	73927774	+	IGR	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:73927774G>A								ALMS1P (15071 upstream) : TPRKB (29182 downstream)																							CTGAGCAGAAGGGAGGTGATA	0.507																																						uc002sjk.1		NA																	0					0						c.(658-660)CCT>CTT		N-acetyltransferase 8B							40.0	44.0	43.0					2																	73927774		2201	4300	6501	SO:0001628	intergenic_variant	51471				gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity	g.chr2:73927774G>A																													2.37:g.73927774G>A							p.P220L	NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN			3	694	-			220						Missense_Mutation	SNP		37	c.659C>T																																																																																				0	0.507									12	35	0	0	0	0	12	35				
THNSL2	55258	broad.mit.edu	37	2	88482287	88482287	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:88482287T>A	ENST00000324166.5	+	5	2563	c.872T>A	c.(871-873)aTc>aAc	p.I291N	THNSL2_ENST00000343544.4_Missense_Mutation_p.I291N|THNSL2_ENST00000358591.2_Missense_Mutation_p.I291N|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000402102.1_Missense_Mutation_p.I291N|THNSL2_ENST00000377254.3_Missense_Mutation_p.I291N|THNSL2_ENST00000496844.1_3'UTR	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	291					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AATGACATCATCCACAGGACT	0.527																																						uc002ssz.3		NA																	0				ovary(1)	1						c.(871-873)ATC>AAC		threonine synthase-like 2							93.0	89.0	91.0					2																	88482287		2203	4300	6503	SO:0001583	missense	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88482287T>A		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.872T>A	2.37:g.88482287T>A	ENSP00000327323:p.Ile291Asn					THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Missense_Mutation_p.I291N|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Missense_Mutation_p.I133N|THNSL2_uc002ssy.3_Missense_Mutation_p.I291N|THNSL2_uc010fhe.2_Missense_Mutation_p.I133N	p.I291N	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN			6	1025	+			291					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	37	c.872T>A	CCDS2002.2	.	.	.	.	.	.	.	.	.	.	T	25.5	4.643714	0.87859	.	.	ENSG00000144115	ENST00000358591;ENST00000377254;ENST00000402102;ENST00000544063;ENST00000343544;ENST00000324166	D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22	5.81	5.81	0.92471	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.055301	0.64402	D	0.000001	D	0.97870	0.9300	M	0.69823	2.125	0.49582	D	0.999806	D;D;D	0.64830	0.993;0.994;0.994	P;P;P	0.61658	0.827;0.892;0.857	D	0.98604	1.0660	10	0.87932	D	0	.	15.3313	0.74215	0.0:0.0:0.0:1.0	.	133;291;291	A8K0C1;Q86YJ6;Q86YJ6-2	.;THNS2_HUMAN;.	N	291;291;291;133;291;291	ENSP00000351402:I291N;ENSP00000366464:I291N;ENSP00000384475:I291N;ENSP00000339563:I291N;ENSP00000327323:I291N	ENSP00000327323:I291N	I	+	2	0	THNSL2	88263402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.155000	0.77445	2.219000	0.72066	0.533000	0.62120	ATC		0.527	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		31	98	0	0	0	0	31	98				
LYG1	129530	broad.mit.edu	37	2	99909015	99909015	+	Missense_Mutation	SNP	G	G	T	rs372059669		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:99909015G>T	ENST00000409448.1	-	5	448	c.132C>A	c.(130-132)caC>caA	p.H44Q	LYG1_ENST00000308528.4_Missense_Mutation_p.H44Q			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	44					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						AGTTCAGGCCGTGACGTCTTC	0.517																																						uc002szy.2		NA																	0					0						c.(130-132)CAC>CAA		lysozyme g-like protein 1 precursor							173.0	162.0	166.0					2																	99909015		2203	4300	6503	SO:0001583	missense	129530				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99909015G>T	BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.132C>A	2.37:g.99909015G>T	ENSP00000386923:p.His44Gln					MRPL30_uc002szl.1_Intron|LYG1_uc010yvo.1_Missense_Mutation_p.H44Q	p.H44Q	NM_174898	NP_777558	Q8N1E2	LYG1_HUMAN			4	382	-			44					Q53RV9	Missense_Mutation	SNP	ENST00000409448.1	37	c.132C>A	CCDS2043.1	.	.	.	.	.	.	.	.	.	.	G	3.145	-0.175573	0.06421	.	.	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	5.07	-6.09	0.02145	Lysozyme-like domain (1);	1.286310	0.05157	N	0.497013	T	0.24851	0.0603	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.19811	-1.0294	8	.	.	.	0.1538	8.1712	0.31256	0.6593:0.0:0.1695:0.1711	.	44	Q8N1E2	LYG1_HUMAN	Q	44	.	.	H	-	3	2	LYG1	99275447	0.001000	0.12720	0.001000	0.08648	0.090000	0.18270	-0.595000	0.05727	-1.495000	0.01831	-0.794000	0.03295	CAC		0.517	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	NM_174898		26	115	1	0	2.42e-17	3.07e-17	26	115				
MFSD9	84804	broad.mit.edu	37	2	103335339	103335339	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:103335339C>T	ENST00000258436.5	-	6	1008	c.965G>A	c.(964-966)gGc>gAc	p.G322D	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	322					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GATGAGGTAGCCTGTCACCTT	0.607																																						uc002tcb.2		NA																	0				ovary(2)|breast(2)	4						c.(964-966)GGC>GAC		major facilitator superfamily domain containing							46.0	45.0	46.0					2																	103335339		2203	4300	6503	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103335339C>T		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.965G>A	2.37:g.103335339C>T	ENSP00000258436:p.Gly322Asp					MFSD9_uc010fja.2_RNA	p.G322D	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN			6	1033	-			322					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.965G>A	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132572	0.94473	.	.	ENSG00000135953	ENST00000258436	T	0.62639	0.01	5.01	5.01	0.66863	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.114798	0.64402	D	0.000012	T	0.80502	0.4635	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83186	-0.0086	10	0.87932	D	0	-17.3261	18.7219	0.91698	0.0:1.0:0.0:0.0	.	322	Q8NBP5	MFSD9_HUMAN	D	322	ENSP00000258436:G322D	ENSP00000258436:G322D	G	-	2	0	MFSD9	102701771	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.273000	0.78527	2.492000	0.84095	0.650000	0.86243	GGC		0.607	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		14	73	0	0	0	0	14	73				
CYP27C1	339761	broad.mit.edu	37	2	127957114	127957114	+	Splice_Site	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:127957114G>A	ENST00000335247.7	-	4	520	c.390C>T	c.(388-390)agC>agT	p.S130S	CYP27C1_ENST00000409327.1_Splice_Site_p.S130S	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	130						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CATGAATTTGGCCTGTTTGAA	0.463																																						uc002tod.2		NA																	0					0						c.(388-390)AGC>AGT		cytochrome P450, family 27, subfamily C,							87.0	77.0	81.0					2																	127957114		2203	4300	6503	SO:0001630	splice_region_variant	339761					membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:127957114G>A	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"""Cytochrome P450s"""	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.389-1C>T	2.37:g.127957114G>A							p.S130S	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.071)	4	521	-	Colorectal(110;0.1)		130					Q6ZNI7	Silent	SNP	ENST00000335247.7	37	c.390C>T	CCDS33285.1																																																																																				0.463	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665	Silent	23	31	0	0	0	0	23	31				
R3HDM1	23518	broad.mit.edu	37	2	136374308	136374308	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:136374308A>C	ENST00000264160.4	+	5	654	c.284A>C	c.(283-285)gAg>gCg	p.E95A	R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000410054.1_Intron|R3HDM1_ENST00000409606.1_Missense_Mutation_p.E95A|R3HDM1_ENST00000329971.3_Intron	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	95							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCTGCACCAGAGATATCACAG	0.368																																						uc002tuo.2		NA																	0				skin(1)	1						c.(283-285)GAG>GCG		R3H domain containing 1							51.0	45.0	47.0					2																	136374308		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136374308A>C	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.284A>C	2.37:g.136374308A>C	ENSP00000264160:p.Glu95Ala					R3HDM1_uc010fni.2_Missense_Mutation_p.E93A|R3HDM1_uc002tup.2_Intron	p.E95A	NM_015361	NP_056176	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	5	654	+			95					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.284A>C	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246697	0.59103	.	.	ENSG00000048991	ENST00000264160;ENST00000409606	T;T	0.35605	1.3;1.3	5.7	5.7	0.88788	.	0.124121	0.53938	D	0.000057	T	0.35595	0.0937	M	0.64404	1.975	0.80722	D	1	P;P	0.39782	0.688;0.646	B;B	0.34093	0.13;0.175	T	0.17837	-1.0356	10	0.33940	T	0.23	-12.3414	15.9595	0.79918	1.0:0.0:0.0:0.0	.	95;95	E9PBB4;Q15032	.;R3HD1_HUMAN	A	95	ENSP00000264160:E95A;ENSP00000387010:E95A	ENSP00000264160:E95A	E	+	2	0	R3HDM1	136090778	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.046000	0.64226	2.171000	0.68590	0.477000	0.44152	GAG		0.368	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		9	26	0	0	0	0	9	26				
LRP1B	53353	broad.mit.edu	37	2	141032117	141032117	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:141032117C>T	ENST00000389484.3	-	85	13989	c.13018G>A	c.(13018-13020)Gat>Aat	p.D4340N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4340	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACACTTCCATCATCCCCAATG	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13018-13020)GAT>AAT		low density lipoprotein-related protein 1B							151.0	120.0	130.0					2																	141032117		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141032117C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13018G>A	2.37:g.141032117C>T	ENSP00000374135:p.Asp4340Asn	TSP Lung(27;0.18)					p.D4340N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	85	13990	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4340			Extracellular (Potential).|EGF-like 13.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13018G>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.08|18.08	3.543204|3.543204	0.65198|0.65198	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977;ENST00000442974	D|.	0.89681|.	-2.55|.	5.36|5.36	4.48|4.48	0.54585|0.54585	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.306402|.	0.30742|.	U|.	0.008968|.	T|T	0.13756|0.13756	0.0333|0.0333	N|N	0.01352|0.01352	-0.895|-0.895	0.27331|0.27331	N|N	0.95676|0.95676	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.09335|0.09335	-1.0679|-1.0679	10|5	0.21540|.	T|.	0.41|.	.|.	11.7565|11.7565	0.51878|0.51878	0.0:0.9184:0.0:0.0816|0.0:0.9184:0.0:0.0816	.|.	4340|.	Q9NZR2|.	LRP1B_HUMAN|.	N|I	4340;4278|571;71	ENSP00000374135:D4340N|.	ENSP00000374135:D4340N|.	D|M	-|-	1|3	0|0	LRP1B|LRP1B	140748587|140748587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.350000|3.350000	0.52224|0.52224	2.499000|2.499000	0.84300|0.84300	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		58	66	0	0	0	0	58	66				
LRP1B	53353	broad.mit.edu	37	2	141108504	141108504	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:141108504T>A	ENST00000389484.3	-	77	12725	c.11754A>T	c.(11752-11754)gaA>gaT	p.E3918D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3918					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGAATTATGTTCAATATGAG	0.338										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(11752-11754)GAA>GAT		low density lipoprotein-related protein 1B							109.0	116.0	113.0					2																	141108504		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141108504T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11754A>T	2.37:g.141108504T>A	ENSP00000374135:p.Glu3918Asp	TSP Lung(27;0.18)					p.E3918D	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	77	12726	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3918			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11754A>T	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.785|9.785	1.176430|1.176430	0.21704|0.21704	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.90844|.	-2.74|.	5.42|5.42	4.26|4.26	0.50523|0.50523	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	0.062565|.	0.64402|.	D|.	0.000008|.	T|T	0.27629|0.27629	0.0679|0.0679	N|N	0.17312|0.17312	0.475|0.475	0.30615|0.30615	N|N	0.759075|0.759075	P|.	0.50443|.	0.935|.	B|.	0.42462|.	0.388|.	T|T	0.24404|0.24404	-1.0161|-1.0161	10|5	0.10111|.	T|.	0.7|.	.|.	7.4769|7.4769	0.27382|0.27382	0.0:0.0725:0.1425:0.7849|0.0:0.0725:0.1425:0.7849	.|.	3918|.	Q9NZR2|.	LRP1B_HUMAN|.	D|I	3918;3856|150	ENSP00000374135:E3918D|.	ENSP00000374135:E3918D|.	E|N	-|-	3|2	2|0	LRP1B|LRP1B	140824974|140824974	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.554000|3.554000	0.53720|0.53720	0.999000|0.999000	0.39023|0.39023	0.533000|0.533000	0.62120|0.62120	GAA|AAC		0.338	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		107	120	0	0	0	0	107	120				
TANC1	85461	broad.mit.edu	37	2	160084427	160084427	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:160084427T>A	ENST00000263635.6	+	25	4238	c.4001T>A	c.(4000-4002)tTa>tAa	p.L1334*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.L1228*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1334					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTCAATGAATTAAGGGTTTCC	0.458																																						uc002uag.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(4000-4002)TTA>TAA		tetratricopeptide repeat, ankyrin repeat and							92.0	95.0	94.0					2																	160084427		1901	4107	6008	SO:0001587	stop_gained	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160084427T>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4001T>A	2.37:g.160084427T>A	ENSP00000263635:p.Leu1334*					TANC1_uc010zcm.1_Nonsense_Mutation_p.L1326*|TANC1_uc010fom.1_Nonsense_Mutation_p.L1140*|TANC1_uc010fon.2_Nonsense_Mutation_p.L178*	p.L1334*	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			25	4275	+			1334					C9JD88|Q49AI8	Nonsense_Mutation	SNP	ENST00000263635.6	37	c.4001T>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	T	46	12.231917	0.99648	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	6.07	6.07	0.98685	.	0.071177	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	.	.	.	X	1228;1334	.	.	L	+	2	0	TANC1	159792673	1.000000	0.71417	0.293000	0.24932	0.941000	0.58515	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	TTA		0.458	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			72	65	0	0	0	0	72	65				
KLHL23	151230	broad.mit.edu	37	2	170598005	170598005	+	Missense_Mutation	SNP	G	G	A	rs140221414		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:170598005G>A	ENST00000392647.2	+	3	1568	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	KLHL23_ENST00000272797.4_Missense_Mutation_p.D442N|KLHL23_ENST00000602521.1_5'UTR	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	442										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CTACAATTCCGATATCAACGA	0.433																																						uc002ufh.1		NA																	0					0						c.(1324-1326)GAT>AAT		kelch-like 23		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	172.0	146.0	155.0		1324,1324	5.8	0.9	2	dbSNP_134	155	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KLHL23,PHOSPHO2-KLHL23	NM_001199290.1,NM_144711.5	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	442/559,442/559	170598005	1,13005	2203	4300	6503	SO:0001583	missense	151230							g.chr2:170598005G>A	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.1324G>A	2.37:g.170598005G>A	ENSP00000376419:p.Asp442Asn					KLHL23_uc002ufi.1_Missense_Mutation_p.D442N	p.D442N	NM_144711	NP_653312	Q8NBE8	KLH23_HUMAN			5	1662	+			442			Kelch 4.		Q8N9B9|Q96FT8	Missense_Mutation	SNP	ENST00000392647.2	37	c.1324G>A	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962373	0.74016	0.0	1.16E-4	ENSG00000213160	ENST00000272797;ENST00000392647;ENST00000437875	T;T;T	0.77877	-1.13;-1.13;-1.13	5.77	5.77	0.91146	Kelch-type beta propeller (1);	0.048847	0.85682	D	0.000000	T	0.72510	0.3469	L	0.40543	1.245	0.31651	N	0.64682	P	0.42039	0.769	B	0.40199	0.322	T	0.69431	-0.5147	9	0.19590	T	0.45	.	19.9928	0.97374	0.0:0.0:1.0:0.0	.	442	Q8NBE8	KLH23_HUMAN	N	442;442;263	ENSP00000272797:D442N;ENSP00000376419:D442N;ENSP00000394732:D263N	ENSP00000272797:D442N	D	+	1	0	KLHL23	170306251	1.000000	0.71417	0.935000	0.37517	0.779000	0.44077	9.869000	0.99810	2.745000	0.94114	0.650000	0.86243	GAT		0.433	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		12	122	0	0	0	0	12	122				
TTN	7273	broad.mit.edu	37	2	179582426	179582426	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:179582426G>T	ENST00000591111.1	-	85	24448	c.24224C>A	c.(24223-24225)tCt>tAt	p.S8075Y	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S8392Y|TTN_ENST00000342992.6_Missense_Mutation_p.S7148Y|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12264	Ig-like 63.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGTACCAAGACACTTGAAG	0.413																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(21442-21444)TCT>TAT		titin isoform N2-A							46.0	45.0	45.0					2																	179582426		1867	4098	5965	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179582426G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24224C>A	2.37:g.179582426G>T	ENSP00000465570:p.Ser8075Tyr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3809Y	p.S7148Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		84	21667	-			8075					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.21443C>A		.	.	.	.	.	.	.	.	.	.	G	11.26	1.587203	0.28268	.	.	ENSG00000155657	ENST00000342992	T	0.70749	-0.51	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81880	0.4916	L	0.52266	1.64	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.81773	-0.0779	9	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	8075	Q8WZ42	TITIN_HUMAN	Y	7148	ENSP00000343764:S7148Y	ENSP00000343764:S7148Y	S	-	2	0	TTN	179290671	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.540000	0.67205	2.941000	0.99782	0.655000	0.94253	TCT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	41	1	0	7.26e-15	9.01e-15	29	41				
COL5A2	1290	broad.mit.edu	37	2	189927938	189927938	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:189927938T>A	ENST00000374866.3	-	27	2103	c.1829A>T	c.(1828-1830)cAg>cTg	p.Q610L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	610					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GCTCCCGGGCTGCCCTCTGAT	0.527																																						uc002uqk.2		NA																	0				ovary(2)	2						c.(1828-1830)CAG>CTG		alpha 2 type V collagen preproprotein							80.0	90.0	86.0					2																	189927938		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189927938T>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1829A>T	2.37:g.189927938T>A	ENSP00000364000:p.Gln610Leu					COL5A2_uc010frx.2_Missense_Mutation_p.Q186L	p.Q610L	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		27	2104	-			610					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.1829A>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.213360	0.58452	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.93133	-3.17	4.56	4.56	0.56223	.	0.000000	0.43919	D	0.000509	D	0.86965	0.6060	N	0.12422	0.21	0.45390	D	0.998374	B;B	0.30482	0.244;0.281	B;B	0.36092	0.033;0.217	D	0.83942	0.0312	9	.	.	.	.	14.2225	0.65836	0.0:0.0:0.0:1.0	.	250;610	Q5PR22;P05997	.;CO5A2_HUMAN	L	610;250	ENSP00000364000:Q610L	.	Q	-	2	0	COL5A2	189636183	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.712000	0.54875	1.821000	0.53095	0.383000	0.25322	CAG		0.527	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		37	253	0	0	0	0	37	253				
DNAH7	56171	broad.mit.edu	37	2	196759837	196759837	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:196759837A>G	ENST00000312428.6	-	30	4859	c.4759T>C	c.(4759-4761)Ttc>Ctc	p.F1587L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1587	AAA 2. {ECO:0000250}.				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						TCGGAAAAGAATGCAGTCATT	0.373																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(4759-4761)TTC>CTC		dynein, axonemal, heavy chain 7							96.0	88.0	90.0					2																	196759837		1849	4098	5947	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196759837A>G	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.4759T>C	2.37:g.196759837A>G	ENSP00000311273:p.Phe1587Leu						p.F1587L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			30	4860	-			1587			AAA 2 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.4759T>C	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574426	0.45902	.	.	ENSG00000118997	ENST00000312428	T	0.21031	2.03	5.26	5.26	0.73747	.	0.057970	0.64402	D	0.000001	T	0.15046	0.0363	L	0.33710	1.025	0.80722	D	1	B	0.25521	0.128	B	0.23716	0.048	T	0.07481	-1.0770	10	0.11794	T	0.64	.	11.8605	0.52463	0.8544:0.1455:0.0:0.0	.	1587	Q8WXX0	DYH7_HUMAN	L	1587	ENSP00000311273:F1587L	ENSP00000311273:F1587L	F	-	1	0	DNAH7	196468082	0.964000	0.33143	0.925000	0.36789	0.900000	0.52787	2.342000	0.43992	2.218000	0.71995	0.533000	0.62120	TTC		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		45	60	0	0	0	0	45	60				
MAP2	4133	broad.mit.edu	37	2	210558740	210558740	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:210558740G>C	ENST00000360351.4	+	7	2352	c.1846G>C	c.(1846-1848)Ggt>Cgt	p.G616R	MAP2_ENST00000447185.1_Missense_Mutation_p.G612R|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	616					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GCATAAAAATGGTGACAAGGA	0.443																																					Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	0				ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(1846-1848)GGT>CGT		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						69.0	67.0	68.0					2																	210558740		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210558740G>C		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1846G>C	2.37:g.210558740G>C	ENSP00000353508:p.Gly616Arg					MAP2_uc002vdc.1_Missense_Mutation_p.G616R|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.G612R	p.G616R	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2094	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	616					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.1846G>C	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.363887	0.24684	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.18174	2.23;2.23	6.16	4.2	0.49525	MAP2/Tau projection (1);	1.217900	0.05604	N	0.576943	T	0.22513	0.0543	L	0.40543	1.245	0.09310	N	1	P;P	0.46784	0.859;0.884	B;B	0.44224	0.316;0.444	T	0.34725	-0.9817	10	0.72032	D	0.01	-0.2668	12.9816	0.58567	0.0651:0.0:0.8119:0.1229	.	612;616	P11137-3;P11137	.;MAP2_HUMAN	R	616;612	ENSP00000353508:G616R;ENSP00000392164:G612R	ENSP00000353508:G616R	G	+	1	0	MAP2	210266985	0.698000	0.27777	0.010000	0.14722	0.153000	0.21895	5.000000	0.63940	1.617000	0.50277	0.650000	0.86243	GGT		0.443	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		30	65	0	0	0	0	30	65				
ABCA12	26154	broad.mit.edu	37	2	215891574	215891574	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:215891574C>T	ENST00000272895.7	-	10	1369	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.V66M	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	384					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGTCAGTCACATTTCTCACA	0.388																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(1150-1152)GTG>ATG		ATP-binding cassette, sub-family A, member 12							171.0	178.0	176.0					2																	215891574		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215891574C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1150G>A	2.37:g.215891574C>T	ENSP00000272895:p.Val384Met					ABCA12_uc002vev.2_Missense_Mutation_p.V66M|ABCA12_uc010zjn.1_Translation_Start_Site	p.V384M	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	10	1370	-		Renal(323;0.127)	384					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.1150G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978400	0.34942	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.57595	0.39;0.39	5.52	-1.69	0.08186	.	1.641780	0.03122	N	0.163893	T	0.36441	0.0967	N	0.12182	0.205	0.80722	D	1	B;B	0.13145	0.007;0.007	B;B	0.17098	0.005;0.017	T	0.03922	-1.0992	10	0.37606	T	0.19	.	10.2087	0.43128	0.0:0.5309:0.0:0.4691	.	384;66	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	M	384;66	ENSP00000272895:V384M;ENSP00000374312:V66M	ENSP00000272895:V384M	V	-	1	0	ABCA12	215599819	0.819000	0.29175	0.939000	0.37840	0.912000	0.54170	-0.442000	0.06871	-0.629000	0.05575	0.467000	0.42956	GTG		0.388	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		104	217	0	0	0	0	104	217				
SCG2	7857	broad.mit.edu	37	2	224462778	224462778	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:224462778C>G	ENST00000305409.2	-	2	1455	c.1223G>C	c.(1222-1224)aGg>aCg	p.R408T		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGAGAGCATCCTATTTTGGAA	0.512																																						uc002vnm.2		NA																	0				ovary(1)	1						c.(1222-1224)AGG>ACG		secretogranin II precursor							76.0	71.0	73.0					2																	224462778		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224462778C>G	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1223G>C	2.37:g.224462778C>G	ENSP00000304133:p.Arg408Thr						p.R408T	NM_003469	NP_003460	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	1356	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	408					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.1223G>C	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	T	9.364	1.068746	0.20147	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.13089	2.62	5.6	5.6	0.85130	.	0.305617	0.31188	N	0.008083	T	0.07683	0.0193	N	0.08118	0	0.22317	N	0.999205	B	0.09022	0.002	B	0.04013	0.001	T	0.26744	-1.0094	10	0.72032	D	0.01	.	8.9034	0.35507	0.0:0.1432:0.0:0.8568	.	408	P13521	SCG2_HUMAN	T	408;268	ENSP00000304133:R408T	ENSP00000304133:R408T	R	-	2	0	SCG2	224171022	0.838000	0.29461	0.978000	0.43139	0.795000	0.44927	1.090000	0.30902	0.955000	0.37878	-0.269000	0.10298	AGG		0.512	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		67	70	0	0	0	0	67	70				
DOCK10	55619	broad.mit.edu	37	2	225651808	225651808	+	Silent	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:225651808T>C	ENST00000258390.7	-	50	5653	c.5586A>G	c.(5584-5586)aaA>aaG	p.K1862K	DOCK10_ENST00000409592.3_Silent_p.K1856K	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1862	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCTCTGCCACTTTCAGATATG	0.428																																						uc010fwz.1		NA																	0				ovary(2)	2						c.(5584-5586)AAA>AAG		dedicator of cytokinesis 10							135.0	127.0	130.0					2																	225651808		1881	4116	5997	SO:0001819	synonymous_variant	55619						GTP binding	g.chr2:225651808T>C	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5586A>G	2.37:g.225651808T>C						DOCK10_uc002vob.2_Silent_p.K1856K|DOCK10_uc002voa.2_Silent_p.K518K|DOCK10_uc002voc.2_Silent_p.K683K	p.K1862K	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	50	5825	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1862			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	c.5586A>G	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	10.61	1.397839	0.25205	.	.	ENSG00000135905	ENST00000535663	.	.	.	5.99	-0.28	0.12886	.	.	.	.	.	T	0.58148	0.2102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53479	-0.8433	4	.	.	.	.	11.0186	0.47705	0.0:0.4135:0.0:0.5865	.	.	.	.	G	10	.	.	S	-	1	0	DOCK10	225360052	1.000000	0.71417	0.961000	0.40146	0.906000	0.53458	1.399000	0.34566	-0.048000	0.13401	0.533000	0.62120	AGT		0.428	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			82	87	0	0	0	0	82	87				
AGFG1	3267	broad.mit.edu	37	2	228337216	228337216	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:228337216C>G	ENST00000310078.8	+	1	339	c.79C>G	c.(79-81)Cga>Gga	p.R27G	AGFG1_ENST00000409315.1_Missense_Mutation_p.R27G|AGFG1_ENST00000409171.1_Missense_Mutation_p.R27G|AGFG1_ENST00000409979.2_Missense_Mutation_p.R27G|MIR5703_ENST00000582757.1_RNA|AGFG1_ENST00000373671.3_Missense_Mutation_p.R27G	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	27	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						CCCGCACAACCGAAAGTGCTT	0.667																																						uc002vpc.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(79-81)CGA>GGA		HIV-1 Rev binding protein isoform 2							39.0	29.0	33.0					2																	228337216		2201	4299	6500	SO:0001583	missense	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228337216C>G		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.79C>G	2.37:g.228337216C>G	ENSP00000312059:p.Arg27Gly					AGFG1_uc002vpd.2_Missense_Mutation_p.R27G|AGFG1_uc002vpe.2_Missense_Mutation_p.R27G|AGFG1_uc002vpf.2_Missense_Mutation_p.R27G	p.R27G	NM_004504	NP_004495	P52594	AGFG1_HUMAN			1	329	+			27			Arf-GAP.		B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	c.79C>G	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838608	0.71373	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	2.95	1.99	0.26369	.	0.000000	0.64402	U	0.000011	T	0.56761	0.2007	M	0.62723	1.935	0.46823	D	0.999217	D;D;D;D	0.69078	0.997;0.981;0.994;0.997	D;P;D;D	0.71870	0.975;0.89;0.955;0.955	T	0.62011	-0.6944	10	0.72032	D	0.01	-1.9501	11.4354	0.50064	0.0:0.817:0.183:0.0	.	27;27;27;27	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	G	27;12;27;27;27;27	ENSP00000387282:R27G;ENSP00000312059:R27G;ENSP00000387154:R27G;ENSP00000362775:R27G;ENSP00000387218:R27G	ENSP00000312059:R27G	R	+	1	2	AGFG1	228045460	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.020000	0.41010	1.504000	0.48704	0.460000	0.39030	CGA		0.667	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		13	11	0	0	0	0	13	11				
BPI	671	broad.mit.edu	37	20	36954720	36954720	+	Silent	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr20:36954720C>A	ENST00000262865.4	+	10	1148	c.1059C>A	c.(1057-1059)acC>acA	p.T353T	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	353					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CAGCCTCCACCCCGCCACACC	0.577																																						uc002xib.2		NA																	0				ovary(4)	4						c.(1057-1059)ACC>ACA		bactericidal/permeability-increasing protein							88.0	71.0	76.0					20																	36954720		2203	4300	6503	SO:0001819	synonymous_variant	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36954720C>A	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.1059C>A	20.37:g.36954720C>A							p.T353T	NM_001725	NP_001716	P17213	BPI_HUMAN			10	1121	+		Myeloproliferative disorder(115;0.00878)	353					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	c.1059C>A	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	C	3.521	-0.097828	0.07010	.	.	ENSG00000101425	ENST00000417318	.	.	.	4.52	-0.411	0.12370	.	.	.	.	.	T	0.20941	0.0504	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24225	-1.0166	4	.	.	.	-1.6043	2.2652	0.04077	0.142:0.2655:0.4087:0.1837	.	.	.	.	H	179	.	.	P	+	2	0	BPI	36388134	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	-0.811000	0.04500	0.094000	0.17404	0.650000	0.86243	CCC		0.577	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		22	33	1	0	5.45e-15	6.8e-15	22	33				
ZNF334	55713	broad.mit.edu	37	20	45131697	45131697	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr20:45131697T>C	ENST00000347606.4	-	5	463	c.281A>G	c.(280-282)gAt>gGt	p.D94G	ZNF334_ENST00000593880.1_Missense_Mutation_p.D117G|ZNF334_ENST00000457685.2_Missense_Mutation_p.D56G	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	94					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)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CAAATGTTTATCTTGGATTTC	0.338																																						uc002xsc.2		NA																	0				ovary(1)|pancreas(1)	2						c.(280-282)GAT>GGT		zinc finger protein 334 isoform a							99.0	83.0	88.0					20																	45131697		2203	4299	6502	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45131697T>C	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.281A>G	20.37:g.45131697T>C	ENSP00000255129:p.Asp94Gly					ZNF334_uc002xsa.2_Missense_Mutation_p.D117G|ZNF334_uc002xsb.2_Missense_Mutation_p.D56G|ZNF334_uc002xsd.2_Missense_Mutation_p.D56G|ZNF334_uc010ghl.2_Missense_Mutation_p.D93G	p.D94G	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN			5	465	-		Myeloproliferative disorder(115;0.0122)	94					Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.281A>G	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	T	8.466	0.856536	0.17106	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.09350	3.22;2.99	3.18	2.07	0.26955	.	.	.	.	.	T	0.07503	0.0189	L	0.29908	0.895	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.36311	-0.9753	9	0.33141	T	0.24	.	5.5753	0.17220	0.0:0.1561:0.0:0.8439	.	56;94;117	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	G	56;94	ENSP00000402582:D56G;ENSP00000255129:D94G	ENSP00000255129:D94G	D	-	2	0	ZNF334	44565104	0.000000	0.05858	0.004000	0.12327	0.053000	0.15095	0.115000	0.15540	0.448000	0.26722	0.438000	0.28831	GAT		0.338	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			42	36	0	0	0	0	42	36				
COL20A1	57642	broad.mit.edu	37	20	61943100	61943100	+	Splice_Site	SNP	C	C	A	rs376114513		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr20:61943100C>A	ENST00000358894.6	+	13	1763	c.1663C>A	c.(1663-1665)Ccc>Acc	p.P555T	COL20A1_ENST00000326996.6_Splice_Site_p.P555T|COL20A1_ENST00000435874.1_Splice_Site_p.P562T|COL20A1_ENST00000422202.1_Splice_Site_p.P562T	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	555	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGCCAGGACCCGTGAGTGCTC	0.692																																						uc011aau.1		NA																	0				central_nervous_system(1)	1						c.(1663-1665)CCC>ACC		collagen, type XX, alpha 1							11.0	17.0	15.0					20																	61943100		2012	4152	6164	SO:0001630	splice_region_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61943100C>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.1663+1C>A	20.37:g.61943100C>A						COL20A1_uc011aav.1_Missense_Mutation_p.P376T	p.P555T	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			13	1763	+	all_cancers(38;1.39e-10)		555					Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.1663C>A	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	C	1.074	-0.669043	0.03403	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	D;D;D;D	0.86769	-2.17;-2.17;-2.14;-2.14	3.34	-3.92	0.04155	Fibronectin, type III (1);	0.701761	0.13447	N	0.387183	T	0.69700	0.3140	N	0.12569	0.235	0.21527	N	0.999656	B;B	0.18968	0.032;0.019	B;B	0.17098	0.017;0.008	T	0.56220	-0.8015	10	0.16420	T	0.52	.	9.3598	0.38188	0.0:0.279:0.0:0.721	.	562;555	Q9P218-2;Q9P218	.;COKA1_HUMAN	T	555;555;562;562	ENSP00000351767:P555T;ENSP00000323077:P555T;ENSP00000408690:P562T;ENSP00000414753:P562T	ENSP00000323077:P555T	P	+	1	0	COL20A1	61413545	0.000000	0.05858	0.944000	0.38274	0.032000	0.12392	-3.039000	0.00633	-0.736000	0.04831	0.313000	0.20887	CCC		0.692	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882	Missense_Mutation	5	7	1	0	0.00116845	0.00122852	5	7				
TPTE	7179	broad.mit.edu	37	21	10934071	10934071	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr21:10934071G>C	ENST00000361285.4	-	16	1235	c.906C>G	c.(904-906)atC>atG	p.I302M	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.I284M|TPTE_ENST00000342420.5_Missense_Mutation_p.I264M	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	302	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.I284I(1)|p.I302I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATCAATCATGATTCTAACGA	0.313																																						uc002yip.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(904-906)ATC>ATG		transmembrane phosphatase with tensin homology							188.0	191.0	190.0					21																	10934071		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10934071G>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.906C>G	21.37:g.10934071G>C	ENSP00000355208:p.Ile302Met					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.I284M|TPTE_uc002yir.1_Missense_Mutation_p.I264M|TPTE_uc010gkv.1_Missense_Mutation_p.I164M	p.I302M	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	16	1274	-			302			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.906C>G	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	4.665	0.123609	0.08931	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98777	-5.13;-5.13;-5.13	2.07	2.07	0.26955	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.296838	0.32314	U	0.006272	D	0.96078	0.8722	L	0.41027	1.25	0.29144	N	0.878828	P;P;B	0.36959	0.575;0.575;0.298	B;B;B	0.39876	0.312;0.312;0.166	D	0.93553	0.6888	10	0.54805	T	0.06	-6.6073	6.6736	0.23082	0.0:0.3003:0.6997:0.0	.	264;284;302	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	M	284;302;264	ENSP00000298232:I284M;ENSP00000355208:I302M;ENSP00000344441:I264M	ENSP00000298232:I284M	I	-	3	3	TPTE	9955942	0.997000	0.39634	0.029000	0.17559	0.104000	0.19210	0.311000	0.19380	1.470000	0.48102	0.194000	0.17425	ATC		0.313	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			41	280	0	0	0	0	41	280				
TPTE	7179	broad.mit.edu	37	21	10952935	10952935	+	Missense_Mutation	SNP	T	T	C	rs146617486	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr21:10952935T>C	ENST00000361285.4	-	9	591	c.262A>G	c.(262-264)Att>Gtt	p.I88V	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.I70V|TPTE_ENST00000342420.5_Missense_Mutation_p.I50V	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	88					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GATGATACAATTGAATGCACA	0.323																																						uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(262-264)ATT>GTT		transmembrane phosphatase with tensin homology		T	VAL/ILE,VAL/ILE,VAL/ILE	18,4382		0,18,2182	43.0	42.0	42.0		208,148,262	-3.6	0.0	21	dbSNP_134	42	0,8558		0,0,4279	no	missense,missense,missense	TPTE	NM_199259.2,NM_199260.2,NM_199261.2	29,29,29	0,18,6461	CC,CT,TT		0.0,0.4091,0.1389	benign,benign,benign	70/534,50/514,88/552	10952935	18,12940	2200	4279	6479	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10952935T>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.262A>G	21.37:g.10952935T>C	ENSP00000355208:p.Ile88Val					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.I70V|TPTE_uc002yir.1_Missense_Mutation_p.I50V|TPTE_uc010gkv.1_5'UTR	p.I88V	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	9	630	-			88					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.262A>G	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	5.208	0.223847	0.09863	0.004091	0.0	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.94184	-3.18;-3.37;-3.33	1.8	-3.6	0.04570	.	0.412716	0.23668	U	0.045758	D	0.85504	0.5712	L	0.43923	1.385	0.09310	N	1	P;P;B	0.34462	0.454;0.454;0.158	B;B;B	0.34452	0.183;0.183;0.062	T	0.77070	-0.2724	10	0.11182	T	0.66	-6.3253	8.296	0.31986	0.0:0.0:0.7043:0.2957	.	50;70;88	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	V	70;88;50;70	ENSP00000298232:I70V;ENSP00000355208:I88V;ENSP00000344441:I50V	ENSP00000298232:I70V	I	-	1	0	TPTE	9974806	0.151000	0.22747	0.002000	0.10522	0.459000	0.32528	0.027000	0.13621	-0.854000	0.04131	0.163000	0.16589	ATT		0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			19	154	0	0	0	0	19	154				
BAGE2	85319	broad.mit.edu	37	21	11058268	11058268	+	RNA	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr21:11058268C>T	ENST00000470054.1	-	0	379							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATCTGGGTACATTTCTCTTC	0.423																																						uc002yit.1		NA																	0					0						c.(172-174)GTA>ATA		B melanoma antigen family, member 2 precursor							97.0	77.0	83.0					21																	11058268		692	1591	2283			85319							g.chr21:11058268C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058268C>T						BAGE_uc002yiw.1_RNA	p.V58I	NM_182482	NP_872288			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	3	380	-								A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37	c.172G>A																																																																																					0.423	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	317	0	0	0	0	7	317				
MYO18B	84700	broad.mit.edu	37	22	26422890	26422890	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:26422890C>A	ENST00000407587.2	+	43	7122	c.6953C>A	c.(6952-6954)gCt>gAt	p.A2318D	MYO18B_ENST00000536101.1_Missense_Mutation_p.A2317D|MYO18B_ENST00000335473.7_Missense_Mutation_p.A2317D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2317						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAAGGGGCCGCTGGTGGTCTC	0.587																																						uc003abz.1		NA																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(6949-6951)GCT>GAT		myosin XVIIIB							28.0	35.0	33.0					22																	26422890		1897	4096	5993	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422890C>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6953C>A	22.37:g.26422890C>A	ENSP00000386096:p.Ala2318Asp					MYO18B_uc003aca.1_Missense_Mutation_p.A2198D|MYO18B_uc010guy.1_Missense_Mutation_p.A2199D|MYO18B_uc010guz.1_Missense_Mutation_p.A2197D|MYO18B_uc011aka.1_Missense_Mutation_p.A1471D|MYO18B_uc011akb.1_Missense_Mutation_p.A1830D|MYO18B_uc010gva.1_Missense_Mutation_p.A300D|MYO18B_uc010gvb.1_RNA	p.A2317D	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			43	7200	+			2317					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6950C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.358|5.358	0.251289|0.251289	0.10130|0.10130	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.87256|.	-2.21;-2.21;-2.23|.	4.64|4.64	-0.912|-0.912	0.10504|0.10504	.|.	7739.210000|.	0.00166|.	N|.	0.000002|.	T|T	0.14356|0.14356	0.0347|0.0347	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.26195|.	0.0;0.089;0.089;0.144;0.144|.	B;B;B;B;B|.	0.21917|.	0.0;0.017;0.017;0.037;0.037|.	T|T	0.26326|0.26326	-1.0106|-1.0106	10|5	0.72032|.	D|.	0.01|.	.|.	3.8524|3.8524	0.08960|0.08960	0.1606:0.5562:0.1085:0.1747|0.1606:0.5562:0.1085:0.1747	.|.	1830;2319;2317;2318;2317|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	D|M	2317;2317;2318|267	ENSP00000441229:A2317D;ENSP00000334563:A2317D;ENSP00000386096:A2318D|.	ENSP00000334563:A2317D|.	A|L	+|+	2|1	0|2	MYO18B|MYO18B	24752890|24752890	0.021000|0.021000	0.18746|0.18746	0.000000|0.000000	0.03702|0.03702	0.044000|0.044000	0.14063|0.14063	3.754000|3.754000	0.55189|0.55189	0.054000|0.054000	0.16065|0.16065	0.462000|0.462000	0.41574|0.41574	GCT|CTG		0.587	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		24	68	1	0	1.66e-10	1.98e-10	24	68				
SLC5A4	6527	broad.mit.edu	37	22	32625260	32625260	+	Missense_Mutation	SNP	C	C	T	rs144357030	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:32625260C>T	ENST00000266086.4	-	11	1212	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	401					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGGGTGCTGGCGCTGTTGAAG	0.577													T|||	6	0.00119808	0.0038	0.0	5008	,	,		18218	0.0		0.001	False		,,,				2504	0.0					uc003ami.2		NA																	0					0						c.(1201-1203)GCC>ACC		solute carrier family 5 (low affinity glucose		T	THR/ALA	8,4398	14.3+/-33.2	0,8,2195	144.0	136.0	139.0		1201	-0.1	0.9	22	dbSNP_134	139	0,8600		0,0,4300	yes	missense	SLC5A4	NM_014227.2	58	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	probably-damaging	401/660	32625260	8,12998	2203	4300	6503	SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32625260C>T	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1201G>A	22.37:g.32625260C>T	ENSP00000266086:p.Ala401Thr						p.A401T	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			11	1203	-			401			Extracellular (Potential).		O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.1201G>A	CCDS13903.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	c	13.47	2.246624	0.39697	0.001816	0.0	ENSG00000100191	ENST00000266086	D	0.90197	-2.63	4.55	-0.116	0.13555	.	0.150685	0.64402	N	0.000015	D	0.87565	0.6209	M	0.67569	2.06	0.47737	D	0.999504	P	0.35527	0.507	B	0.40066	0.318	T	0.79792	-0.1654	10	0.48119	T	0.1	.	5.9122	0.19035	0.1372:0.6018:0.0:0.261	.	401	Q9NY91	SC5A4_HUMAN	T	401	ENSP00000266086:A401T	ENSP00000266086:A401T	A	-	1	0	SLC5A4	30955260	0.131000	0.22433	0.875000	0.34327	0.401000	0.30781	0.639000	0.24690	-0.235000	0.09767	-1.551000	0.00897	GCC		0.577	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		58	145	0	0	0	0	58	145				
CYTH4	27128	broad.mit.edu	37	22	37708147	37708147	+	Silent	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:37708147C>A	ENST00000248901.6	+	12	1231	c.1044C>A	c.(1042-1044)ggC>ggA	p.G348G		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	348	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TGGTGGAGGGCAAGCACGAAT	0.627																																						uc003arf.2		NA																	0				ovary(2)	2						c.(1042-1044)GGC>GGA		cytohesin 4							139.0	121.0	127.0					22																	37708147		2203	4300	6503	SO:0001819	synonymous_variant	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37708147C>A	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.1044C>A	22.37:g.37708147C>A						CYTH4_uc011amw.1_Silent_p.G291G|CYTH4_uc010gxe.2_Intron	p.G348G	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN			12	1160	+			348			PH.		Q5R3F9|Q9UGT6	Silent	SNP	ENST00000248901.6	37	c.1044C>A	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	C	7.887	0.731521	0.15507	.	.	ENSG00000100055	ENST00000446506	.	.	.	4.71	3.62	0.41486	.	.	.	.	.	T	0.59945	0.2231	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56992	-0.7887	4	.	.	.	.	9.7444	0.40437	0.1529:0.6981:0.149:0.0	.	.	.	.	K	101	.	.	Q	+	1	0	CYTH4	36038093	0.022000	0.18835	1.000000	0.80357	0.653000	0.38743	-1.251000	0.02882	2.339000	0.79563	0.561000	0.74099	CAA		0.627	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			13	65	1	0	0.000151284	0.000163852	13	65				
APOBEC3D	140564	broad.mit.edu	37	22	39421332	39421332	+	Silent	SNP	T	T	C	rs371920813		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:39421332T>C	ENST00000216099.8	+	3	875	c.468T>C	c.(466-468)cgT>cgC	p.R156R	APOBEC3D_ENST00000381568.4_Silent_p.R156R|APOBEC3D_ENST00000427494.2_Intron	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	156					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CAGGGGCCCGTGTGAAGATCA	0.592																																						uc011aoe.1		NA																	0					0						c.(466-468)CGT>CGC		apolipoprotein B mRNA editing enzyme, catalytic		T		0,4406		0,0,2203	46.0	50.0	49.0		468	-4.9	0.0	22		49	1,8599		0,1,4299	no	coding-synonymous	APOBEC3D	NM_152426.3		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		156/387	39421332	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140564				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr22:39421332T>C	BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.468T>C	22.37:g.39421332T>C						APOBEC3D_uc011aod.1_Silent_p.R156R|APOBEC3D_uc011aof.1_Intron|APOBEC3D_uc003awu.3_Intron|APOBEC3D_uc003awt.3_Silent_p.R156R|APOBEC3D_uc010gxu.2_Intron	p.R156R	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN			3	522	+	Melanoma(58;0.04)		156					Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	ENST00000216099.8	37	c.468T>C	CCDS46709.1																																																																																				0.592	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		39	48	0	0	0	0	39	48				
MGAT3	4248	broad.mit.edu	37	22	39883967	39883967	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:39883967G>A	ENST00000341184.6	+	2	830	c.615G>A	c.(613-615)ccG>ccA	p.P205P		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	205					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGGAGGTGCCGCGCCGCGTCA	0.677																																						uc003axv.3		NA																	0					0						c.(613-615)CCG>CCA		mannosyl (beta-1,4-)-glycoprotein							29.0	24.0	26.0					22																	39883967		2203	4299	6502	SO:0001819	synonymous_variant	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883967G>A	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.615G>A	22.37:g.39883967G>A						MGAT3_uc010gxy.2_Silent_p.P205P	p.P205P	NM_002409	NP_002400	Q09327	MGAT3_HUMAN			2	854	+	Melanoma(58;0.04)		205			Lumenal (Potential).		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	c.615G>A	CCDS13994.2																																																																																				0.677	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		6	16	0	0	0	0	6	16				
TUBGCP6	85378	broad.mit.edu	37	22	50656953	50656953	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:50656953C>T	ENST00000248846.5	-	22	5022	c.4918G>A	c.(4918-4920)Gcg>Acg	p.A1640T	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1640					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCCTTGAGCGCCCACATCATG	0.652																																						uc003bkb.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(4918-4920)GCG>ACG		tubulin, gamma complex associated protein 6							50.0	46.0	48.0					22																	50656953		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50656953C>T	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4918G>A	22.37:g.50656953C>T	ENSP00000248846:p.Ala1640Thr					TUBGCP6_uc003bka.1_Missense_Mutation_p.A727T|TUBGCP6_uc010har.1_Missense_Mutation_p.A1632T|TUBGCP6_uc010has.1_RNA	p.A1640T	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	22	5430	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1640					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.4918G>A	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	C	1.757	-0.487863	0.04352	.	.	ENSG00000128159	ENST00000248846;ENST00000425018	T;T	0.08370	3.1;3.1	5.16	4.12	0.48240	.	0.198999	0.52532	N	0.000079	T	0.02083	0.0065	N	0.00436	-1.5	0.80722	D	1	B;B;B	0.14012	0.001;0.009;0.007	B;B;B	0.17098	0.002;0.017;0.01	T	0.39961	-0.9588	10	0.08599	T	0.76	.	9.9075	0.41386	0.0:0.0838:0.0:0.9162	.	1632;1640;1640	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	T	1640;326	ENSP00000248846:A1640T;ENSP00000405979:A326T	ENSP00000248846:A1640T	A	-	1	0	TUBGCP6	48999080	1.000000	0.71417	0.994000	0.49952	0.111000	0.19643	3.875000	0.56108	0.814000	0.34374	-0.469000	0.05056	GCG		0.652	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		14	75	0	0	0	0	14	75				
CNTN4	152330	broad.mit.edu	37	3	2778011	2778011	+	Silent	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:2778011A>T	ENST00000397461.1	+	4	552	c.168A>T	c.(166-168)ccA>ccT	p.P56P	CNTN4_ENST00000418658.1_Silent_p.P56P|CNTN4_ENST00000427331.1_Silent_p.P56P	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	56	Ig-like C2-type 1.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAGGAAATCCAAAACCTCATA	0.338																																						uc003bpc.2		NA																	0				large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(166-168)CCA>CCT		contactin 4 isoform a precursor							84.0	80.0	82.0					3																	2778011		1817	4075	5892	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2778011A>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.168A>T	3.37:g.2778011A>T						CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.P56P	p.P56P	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	4	389	+		Ovarian(110;0.156)	56			Ig-like C2-type 1.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.168A>T	CCDS43041.1																																																																																				0.338	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			32	105	0	0	0	0	32	105				
WNT7A	7476	broad.mit.edu	37	3	13916474	13916474	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:13916474G>A	ENST00000285018.4	-	2	572	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	90					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						AAGACGGTGCGCTCTCCCAGT	0.582																																						uc003bye.1		NA																	0				ovary(2)|breast(1)	3						c.(268-270)CGC>TGC		wingless-type MMTV integration site family,							52.0	44.0	47.0					3																	13916474		2203	4300	6503	SO:0001583	missense	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13916474G>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.268C>T	3.37:g.13916474G>A	ENSP00000285018:p.Arg90Cys						p.R90C	NM_004625	NP_004616	O00755	WNT7A_HUMAN			2	573	-			90					Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	c.268C>T	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	g	22.0	4.232797	0.79688	.	.	ENSG00000154764	ENST00000285018	T	0.76448	-1.02	5.17	4.21	0.49690	.	0.114336	0.56097	D	0.000037	D	0.86285	0.5896	M	0.80332	2.49	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	D	0.87364	0.2346	10	0.56958	D	0.05	.	12.6304	0.56655	0.0:0.0:0.6827:0.3173	.	90	O00755	WNT7A_HUMAN	C	90	ENSP00000285018:R90C	ENSP00000285018:R90C	R	-	1	0	WNT7A	13891475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.377000	0.34317	2.400000	0.81607	0.651000	0.88453	CGC		0.582	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		15	38	0	0	0	0	15	38				
MYRIP	25924	broad.mit.edu	37	3	40275391	40275391	+	Silent	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:40275391C>A	ENST00000302541.6	+	12	2289	c.1947C>A	c.(1945-1947)gtC>gtA	p.V649V	MYRIP_ENST00000539167.1_Silent_p.V462V|MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000396217.3_Silent_p.V560V|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Silent_p.V649V	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	649	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CCACAGAAGTCCTGAAAGTCA	0.488																																						uc003cka.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1945-1947)GTC>GTA		myosin VIIA and Rab interacting protein							90.0	87.0	88.0					3																	40275391		2203	4300	6503	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40275391C>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1947C>A	3.37:g.40275391C>A						MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Intron|MYRIP_uc010hhw.2_Silent_p.V560V|MYRIP_uc011ayz.1_Silent_p.V462V|uc003ckb.2_Intron	p.V649V	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	12	2082	+			649			Actin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.1947C>A	CCDS2689.1																																																																																				0.488	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		26	81	1	0	3.01e-09	3.55e-09	26	81				
STAB1	23166	broad.mit.edu	37	3	52558127	52558127	+	Silent	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:52558127T>C	ENST00000321725.6	+	68	7630	c.7554T>C	c.(7552-7554)gaT>gaC	p.D2518D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2518					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CGGAAGATGATGCTGATGACG	0.617																																						uc003dej.2		NA																	0				large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(7552-7554)GAT>GAC		stabilin 1 precursor							158.0	145.0	150.0					3																	52558127		2203	4300	6503	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52558127T>C	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.7554T>C	3.37:g.52558127T>C						STAB1_uc003del.2_Silent_p.D430D	p.D2518D	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	68	7628	+			2518			Cytoplasmic (Potential).		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.7554T>C	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	T	2.657	-0.280664	0.05642	.	.	ENSG00000010327	ENST00000469989	.	.	.	5.78	-4.81	0.03180	.	.	.	.	.	T	0.49150	0.1540	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50980	-0.8763	4	.	.	.	.	7.7641	0.28970	0.118:0.4739:0.0:0.4081	.	.	.	.	R	125	.	.	C	+	1	0	STAB1	52533167	0.006000	0.16342	0.891000	0.34965	0.101000	0.19017	-0.465000	0.06680	-0.428000	0.07339	0.459000	0.35465	TGC		0.617	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		38	236	0	0	0	0	38	236				
FAM19A1	407738	broad.mit.edu	37	3	68055801	68055801	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:68055801T>C	ENST00000478136.1	+	2	522	c.32T>C	c.(31-33)cTg>cCg	p.L11P	FAM19A1_ENST00000496687.1_Missense_Mutation_p.L11P	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	11						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TCCTGGGTCCTGTATTTGTGG	0.522																																						uc003dnd.2		NA																	0				ovary(1)	1						c.(31-33)CTG>CCG		family with sequence similarity 19 (chemokine							247.0	242.0	244.0					3																	68055801		2105	4234	6339	SO:0001583	missense	407738					endoplasmic reticulum|extracellular region		g.chr3:68055801T>C	AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.32T>C	3.37:g.68055801T>C	ENSP00000418575:p.Leu11Pro					FAM19A1_uc003dne.2_Missense_Mutation_p.L11P|FAM19A1_uc003dng.2_Missense_Mutation_p.L11P|FAM19A1_uc003dnf.1_RNA	p.L11P	NM_213609	NP_998774	Q7Z5A9	F19A1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)	2	248	+		Lung NSC(201;0.0117)	11					A8K0V3|Q8TCL8	Missense_Mutation	SNP	ENST00000478136.1	37	c.32T>C	CCDS54606.1	.	.	.	.	.	.	.	.	.	.	.	17.18	3.322643	0.60634	.	.	ENSG00000183662	ENST00000478136;ENST00000496687	.	.	.	6.17	5.01	0.66863	.	0.755806	0.11571	N	0.550762	T	0.33294	0.0858	L	0.29908	0.895	0.53688	D	0.999979	P	0.48694	0.914	B	0.32928	0.155	T	0.09640	-1.0665	9	0.56958	D	0.05	.	12.4531	0.55688	0.0:0.065:0.0:0.935	.	11	Q7Z5A9	F19A1_HUMAN	P	11	.	ENSP00000418575:L11P	L	+	2	0	FAM19A1	68138491	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.571000	0.74000	1.147000	0.42369	-0.290000	0.09829	CTG		0.522	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352004.1	NM_213609		31	224	0	0	0	0	31	224				
PDZRN3	23024	broad.mit.edu	37	3	73433788	73433788	+	Silent	SNP	G	G	A	rs368693865		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:73433788G>A	ENST00000263666.4	-	10	2043	c.1929C>T	c.(1927-1929)tgC>tgT	p.C643C	PDZRN3_ENST00000535920.1_Silent_p.C365C|PDZRN3_ENST00000479530.1_Silent_p.C360C|PDZRN3_ENST00000462146.2_Silent_p.C300C|PDZRN3_ENST00000466780.1_Silent_p.C300C|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	643					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C643C(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGAAGCGCTCGCACTCGTCCA	0.657																																						uc003dpl.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(1927-1929)TGC>TGT		PDZ domain containing ring finger 3		G		1,4405	2.1+/-5.4	0,1,2202	60.0	65.0	63.0		1929	1.2	1.0	3		63	0,8600		0,0,4300	no	coding-synonymous	PDZRN3	NM_015009.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		643/1067	73433788	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433788G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1929C>T	3.37:g.73433788G>A						PDZRN3_uc011bgh.1_Silent_p.C300C|PDZRN3_uc010hoe.1_Silent_p.C341C|PDZRN3_uc011bgf.1_Silent_p.C360C|PDZRN3_uc011bgg.1_Silent_p.C363C	p.C643C	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2025	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	643					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.1929C>T	CCDS33789.1																																																																																				0.657	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		34	109	0	0	0	0	34	109				
ROBO2	6092	broad.mit.edu	37	3	77089996	77089996	+	Splice_Site	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:77089996T>A	ENST00000461745.1	+	1	960	c.60T>A	c.(58-60)gaT>gaA	p.D20E	ROBO2_ENST00000332191.8_Splice_Site_p.D20E|ROBO2_ENST00000487694.3_Intron	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	20					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTCGGGTTGATGGTAAGTTAA	0.363																																						uc003dpy.3		NA																	0				lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(58-60)GAT>GAA		roundabout, axon guidance receptor, homolog 2							198.0	188.0	191.0					3																	77089996		1823	4084	5907	SO:0001630	splice_region_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77089996T>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.61+1T>A	3.37:g.77089996T>A						ROBO2_uc003dpz.2_Missense_Mutation_p.D20E|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.D20E	p.D20E	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	1	703	+			20					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.60T>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.433990	0.43224	.	.	ENSG00000185008	ENST00000461745;ENST00000332191	T;T	0.60672	0.18;0.17	5.49	0.222	0.15288	.	.	.	.	.	T	0.33614	0.0869	N	0.14661	0.345	0.22317	N	0.999203	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.31420	-0.9944	8	0.19590	T	0.45	.	6.9717	0.24652	0.0:0.3771:0.1233:0.4996	.	20;20	F8W703;Q9HCK4	.;ROBO2_HUMAN	E	20	ENSP00000417164:D20E;ENSP00000327536:D20E	ENSP00000327536:D20E	D	+	3	2	ROBO2	77172686	0.961000	0.32948	0.985000	0.45067	0.956000	0.61745	-0.182000	0.09726	0.050000	0.15949	0.459000	0.35465	GAT		0.363	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	Missense_Mutation	31	229	0	0	0	0	31	229				
OR5K2	402135	broad.mit.edu	37	3	98217106	98217106	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:98217106C>T	ENST00000427338.1	+	1	659	c.582C>T	c.(580-582)atC>atT	p.I194I	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACCCTTTCATCAATGAACTGG	0.353																																						uc011bgx.1		NA																	0				ovary(2)	2						c.(580-582)ATC>ATT		olfactory receptor, family 5, subfamily K,							233.0	230.0	231.0					3																	98217106		2203	4300	6503	SO:0001819	synonymous_variant	402135				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98217106C>T	AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"""GPCR / Class A : Olfactory receptors"""	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.582C>T	3.37:g.98217106C>T							p.I194I	NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN			1	582	+			194			Extracellular (Potential).		B2RN70|Q6IF47	Silent	SNP	ENST00000427338.1	37	c.582C>T	CCDS33804.1																																																																																				0.353	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2			204	360	0	0	0	0	204	360				
ARHGAP31	57514	broad.mit.edu	37	3	119133831	119133831	+	Missense_Mutation	SNP	C	C	T	rs375426216		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:119133831C>T	ENST00000264245.4	+	12	3587	c.3055C>T	c.(3055-3057)Cct>Tct	p.P1019S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1019					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGCAGAGGCTCCTCCCAACCA	0.592																																					Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3		NA																	0				ovary(2)	2						c.(3055-3057)CCT>TCT		Cdc42 GTPase-activating protein		C	SER/PRO	0,3966		0,0,1983	53.0	60.0	58.0		3055	-2.1	0.0	3		58	1,8323		0,1,4161	no	missense	ARHGAP31	NM_020754.2	74	0,1,6144	TT,TC,CC		0.012,0.0,0.0081	benign	1019/1445	119133831	1,12289	1983	4162	6145	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119133831C>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3055C>T	3.37:g.119133831C>T	ENSP00000264245:p.Pro1019Ser						p.P1019S	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			12	3587	+			1019					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.3055C>T	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	c	0.474	-0.882902	0.02530	0.0	1.2E-4	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06068	3.35	4.79	-2.1	0.07210	.	1.016100	0.07892	N	0.971290	T	0.03827	0.0108	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48080	-0.9066	10	0.18276	T	0.48	.	6.9245	0.24408	0.0:0.3449:0.3535:0.3017	.	1019	Q2M1Z3	RHG31_HUMAN	S	1019	ENSP00000264245:P1019S	ENSP00000264245:P1019S	P	+	1	0	ARHGAP31	120616521	0.000000	0.05858	0.002000	0.10522	0.739000	0.42172	-0.054000	0.11826	-0.254000	0.09500	-0.215000	0.12644	CCT		0.592	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			21	95	0	0	0	0	21	95				
KALRN	8997	broad.mit.edu	37	3	124438313	124438313	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:124438313C>T	ENST00000291478.5	+	27	4029	c.3866C>T	c.(3865-3867)aCg>aTg	p.T1289M	KALRN_ENST00000360013.3_Missense_Mutation_p.T2986M|KALRN_ENST00000428018.2_Missense_Mutation_p.T1257M	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2985	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AACCAAGGGACGTAGCCATCT	0.483																																						uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(8956-8958)ACG>ATG		kalirin, RhoGEF kinase isoform 1							36.0	36.0	36.0					3																	124438313		2156	4246	6402	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124438313C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3866C>T	3.37:g.124438313C>T	ENSP00000291478:p.Thr1289Met					KALRN_uc003ehk.2_Missense_Mutation_p.T1289M	p.T2986M	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			60	9084	+			2985					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.8957C>T	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.23|19.23	3.787416|3.787416	0.70337|0.70337	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000360013;ENST00000291478;ENST00000428018	.|T;T;T	.|0.61274	.|0.12;0.16;0.14	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.150129	.|0.46442	.|D	.|0.000286	T|T	0.66809|0.66809	0.2827|0.2827	L|L	0.40543|0.40543	1.245|1.245	0.31882|0.31882	N|N	0.618385|0.618385	.|D;D	.|0.76494	.|0.999;0.998	.|P;P	.|0.61658	.|0.892;0.662	T|T	0.71800|0.71800	-0.4483|-0.4483	5|10	.|0.87932	.|D	.|0	.|.	17.3124|17.3124	0.87213|0.87213	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1289;2985	.|C9JQ37;O60229	.|.;KALRN_HUMAN	C|M	2955|2986;1289;1257	.|ENSP00000353109:T2986M;ENSP00000291478:T1289M;ENSP00000402419:T1257M	.|ENSP00000291478:T1289M	R|T	+|+	1|2	0|0	KALRN|KALRN	125921003|125921003	0.997000|0.997000	0.39634|0.39634	0.998000|0.998000	0.56505|0.56505	0.883000|0.883000	0.51084|0.51084	3.345000|3.345000	0.52182|0.52182	2.756000|2.756000	0.94617|0.94617	0.563000|0.563000	0.77884|0.77884	CGT|ACG		0.483	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		32	48	0	0	0	0	32	48				
SLC41A3	54946	broad.mit.edu	37	3	125735640	125735640	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:125735640C>T	ENST00000315891.6	-	7	1062	c.824G>A	c.(823-825)aGc>aAc	p.S275N	SLC41A3_ENST00000360370.4_Missense_Mutation_p.S275N|SLC41A3_ENST00000508835.1_Missense_Mutation_p.S158N|SLC41A3_ENST00000383598.2_Missense_Mutation_p.S249N|SLC41A3_ENST00000346785.5_Missense_Mutation_p.S239N	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		GATGGGTGGGCTCTGCTTGGC	0.587																																						uc003eij.2		NA																	0					0						c.(823-825)AGC>AAC		solute carrier family 41, member 3 isoform 1							82.0	74.0	76.0					3																	125735640		2203	4300	6503	SO:0001583	missense	54946					integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr3:125735640C>T		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.824G>A	3.37:g.125735640C>T	ENSP00000326070:p.Ser275Asn					SLC41A3_uc003eii.2_Missense_Mutation_p.S249N|SLC41A3_uc003eil.2_Missense_Mutation_p.S275N|SLC41A3_uc003eik.2_Missense_Mutation_p.S239N|SLC41A3_uc011bkh.1_Missense_Mutation_p.S158N|SLC41A3_uc010hsd.1_Missense_Mutation_p.S290N	p.S275N	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN		GBM - Glioblastoma multiforme(114;0.167)	7	1050	-			275					A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	37	c.824G>A	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	C	2.588	-0.295834	0.05532	.	.	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835;ENST00000514677	T;T;T;T;T	0.28666	1.78;1.72;1.78;1.76;1.6	5.52	1.02	0.19986	.	0.289753	0.41294	N	0.000904	T	0.07638	0.0192	N	0.01048	-1.04	0.33960	D	0.645469	B;B;B;B;B;B	0.15719	0.001;0.001;0.002;0.014;0.008;0.001	B;B;B;B;B;B	0.19946	0.006;0.002;0.01;0.027;0.012;0.014	T	0.41752	-0.9491	10	0.02654	T	1	-21.9966	7.7708	0.29008	0.0:0.5184:0.0:0.4816	.	158;275;275;239;275;249	B7Z4Y2;A8MQ22;E7ENY4;Q96GZ6-3;Q96GZ6;Q96GZ6-7	.;.;.;.;S41A3_HUMAN;.	N	275;239;249;266;275;158;290	ENSP00000353533:S275N;ENSP00000264471:S239N;ENSP00000373092:S249N;ENSP00000326070:S275N;ENSP00000422828:S290N	ENSP00000326070:S275N	S	-	2	0	SLC41A3	127218330	0.998000	0.40836	0.998000	0.56505	0.615000	0.37417	0.801000	0.27055	0.109000	0.17891	0.591000	0.81541	AGC		0.587	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836		4	122	0	0	0	0	4	122				
CPNE4	131034	broad.mit.edu	37	3	131404769	131404769	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:131404769T>A	ENST00000512055.1	-	10	2667	c.541A>T	c.(541-543)Att>Ttt	p.I181F	CPNE4_ENST00000512332.1_Missense_Mutation_p.I199F|CPNE4_ENST00000429747.1_Missense_Mutation_p.I181F|CPNE4_ENST00000511604.1_Missense_Mutation_p.I181F|CPNE4_ENST00000502818.1_Missense_Mutation_p.I199F			Q96A23	CPNE4_HUMAN	copine IV	181	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ATACGAAAAATTTCCAGAAAT	0.383																																						uc003eok.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(541-543)ATT>TTT		copine IV							75.0	70.0	71.0					3																	131404769		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131404769T>A	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.541A>T	3.37:g.131404769T>A	ENSP00000421705:p.Ile181Phe					CPNE4_uc011blq.1_Missense_Mutation_p.I199F|CPNE4_uc003eol.2_Missense_Mutation_p.I199F|CPNE4_uc003eom.2_Missense_Mutation_p.I181F	p.I181F	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN			6	976	-			181			C2 2.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.541A>T	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	T	5.530	0.282735	0.10458	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	5.81	5.81	0.92471	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.146639	0.64402	D	0.000011	T	0.62221	0.2410	L	0.50847	1.595	0.58432	D	0.999998	P;B	0.39535	0.677;0.002	B;B	0.42138	0.377;0.026	T	0.61422	-0.7066	10	0.02654	T	1	-19.6358	10.273	0.43493	0.0:0.0742:0.0:0.9258	.	199;181	Q96A23-2;Q96A23	.;CPNE4_HUMAN	F	181;181;199;181;199	ENSP00000421705:I181F;ENSP00000411904:I181F;ENSP00000424853:I199F;ENSP00000423811:I181F;ENSP00000421646:I199F	ENSP00000411904:I181F	I	-	1	0	CPNE4	132887459	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.196000	0.65136	2.233000	0.73108	0.519000	0.50382	ATT		0.383	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		17	62	0	0	0	0	17	62				
EPHB1	2047	broad.mit.edu	37	3	134851723	134851723	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:134851723G>C	ENST00000398015.3	+	5	1499	c.1129G>C	c.(1129-1131)Gtg>Ctg	p.V377L	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	377	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						TGACGACAATGTGGAGTTTGT	0.617																																						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.(1129-1131)GTG>CTG		ephrin receptor EphB1 precursor							44.0	49.0	47.0					3																	134851723		2197	4294	6491	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134851723G>C	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.1129G>C	3.37:g.134851723G>C	ENSP00000381097:p.Val377Leu					EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	p.V377L	NM_004441	NP_004432	P54762	EPHB1_HUMAN			5	1349	+			377			Extracellular (Potential).|Fibronectin type-III 1.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1129G>C	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944485	0.92593	.	.	ENSG00000154928	ENST00000398015	T	0.57907	0.37	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.75657	0.3879	M	0.83118	2.625	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.75736	-0.3213	10	0.41790	T	0.15	.	19.4235	0.94732	0.0:0.0:1.0:0.0	.	377	P54762	EPHB1_HUMAN	L	377	ENSP00000381097:V377L	ENSP00000381097:V377L	V	+	1	0	EPHB1	136334413	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	9.869000	0.99810	2.590000	0.87494	0.655000	0.94253	GTG		0.617	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		5	53	0	0	0	0	5	53				
CLSTN2	64084	broad.mit.edu	37	3	140123507	140123507	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:140123507T>C	ENST00000458420.3	+	4	726	c.536T>C	c.(535-537)cTg>cCg	p.L179P	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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						GACAGCATTCTGCAGGTGGAG	0.507										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(535-537)CTG>CCG		calsyntenin 2 precursor							148.0	118.0	128.0					3																	140123507		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140123507T>C	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.536T>C	3.37:g.140123507T>C	ENSP00000402460:p.Leu179Pro	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.L179P	p.L179P	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			4	726	+			179			Extracellular (Potential).|Cadherin 2.		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.536T>C	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.358251	0.82243	.	.	ENSG00000158258	ENST00000458420	T	0.51817	0.69	5.66	5.66	0.87406	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000004	T	0.74589	0.3736	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80906	-0.1173	10	0.87932	D	0	-16.6161	13.8537	0.63513	0.0:0.0:0.0:1.0	.	179	Q9H4D0	CSTN2_HUMAN	P	179	ENSP00000402460:L179P	ENSP00000402460:L179P	L	+	2	0	CLSTN2	141606197	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.838000	0.86804	2.153000	0.67306	0.460000	0.39030	CTG		0.507	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		40	143	0	0	0	0	40	143				
XRN1	54464	broad.mit.edu	37	3	142141448	142141448	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:142141448C>T	ENST00000264951.4	-	8	1060	c.943G>A	c.(943-945)Gtt>Att	p.V315I	RNU1-100P_ENST00000365255.1_RNA|XRN1_ENST00000392981.2_Missense_Mutation_p.V315I|XRN1_ENST00000544157.1_Missense_Mutation_p.V105I|XRN1_ENST00000463916.1_Missense_Mutation_p.V315I	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	315					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AGGATGGTAACATATGTTCCA	0.358																																						uc003eus.2		NA																	0				ovary(3)	3						c.(943-945)GTT>ATT		5'-3' exoribonuclease 1 isoform a							76.0	77.0	77.0					3																	142141448		2203	4298	6501	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142141448C>T	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.943G>A	3.37:g.142141448C>T	ENSP00000264951:p.Val315Ile					XRN1_uc003eut.2_Missense_Mutation_p.V315I|XRN1_uc003euu.2_Missense_Mutation_p.V315I|XRN1_uc003euv.1_Missense_Mutation_p.V176I|XRN1_uc003euw.2_Missense_Mutation_p.V315I|XRN1_uc011bnh.1_Missense_Mutation_p.V105I	p.V315I	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			8	1010	-			315					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.943G>A	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	4.469	0.086988	0.08583	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000544157	T;T	0.28666	1.6;1.61	5.39	2.95	0.34219	.	0.140827	0.64402	N	0.000003	T	0.09291	0.0229	N	0.00841	-1.15	0.24288	N	0.995176	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.0;0.0;0.0	T	0.31943	-0.9925	10	0.19147	T	0.46	-7.0863	10.1236	0.42637	0.0:0.1383:0.0:0.8617	.	105;315;176;315;315	B4E2K3;Q8IZH2-3;B3KW17;Q8IZH2-2;Q8IZH2	.;.;.;.;XRN1_HUMAN	I	315;315;315;105	ENSP00000264951:V315I;ENSP00000376707:V315I	ENSP00000264951:V315I	V	-	1	0	XRN1	143624138	1.000000	0.71417	0.993000	0.49108	0.880000	0.50808	3.941000	0.56607	0.333000	0.23563	-0.295000	0.09555	GTT		0.358	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		74	128	0	0	0	0	74	128				
ATR	545	broad.mit.edu	37	3	142217599	142217599	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:142217599A>T	ENST00000350721.4	-	32	5519	c.5398T>A	c.(5398-5400)Tgg>Agg	p.W1800R	ATR_ENST00000383101.3_Missense_Mutation_p.W1736R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1800	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTGACACTCCATGTTGTAGAT	0.378								Other conserved DNA damage response genes																														uc003eux.3		NA																	0				lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(5398-5400)TGG>AGG	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							60.0	58.0	59.0					3																	142217599		2203	4299	6502	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142217599A>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.5398T>A	3.37:g.142217599A>T	ENSP00000343741:p.Trp1800Arg						p.W1800R	NM_001184	NP_001175	Q13535	ATR_HUMAN			32	5520	-			1800			FAT.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.5398T>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.622271	0.46840	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.03524	3.9;3.94	4.95	4.95	0.65309	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	T	0.17408	0.0418	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.01688	-1.1295	10	0.32370	T	0.25	-6.2249	14.6183	0.68565	1.0:0.0:0.0:0.0	.	1800	Q13535	ATR_HUMAN	R	1800;1736	ENSP00000343741:W1800R;ENSP00000372581:W1736R	ENSP00000343741:W1800R	W	-	1	0	ATR	143700289	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.109000	0.94291	1.878000	0.54408	0.528000	0.53228	TGG		0.378	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		36	65	0	0	0	0	36	65				
PLOD2	5352	broad.mit.edu	37	3	145828169	145828169	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:145828169T>G	ENST00000360060.3	-	4	582	c.405A>C	c.(403-405)aaA>aaC	p.K135N	PLOD2_ENST00000282903.5_Missense_Mutation_p.K135N|PLOD2_ENST00000494950.1_Missense_Mutation_p.K80N	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	135					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	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-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CAAAGACCACTTTGTGGTTTG	0.388																																						uc003evs.1		NA																	0				ovary(1)|skin(1)	2						c.(403-405)AAA>AAC		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Vitamin C(DB00126)						131.0	133.0	132.0					3																	145828169		2203	4300	6503	SO:0001583	missense	5352				protein modification process|response to hypoxia	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.chr3:145828169T>G	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.405A>C	3.37:g.145828169T>G	ENSP00000353170:p.Lys135Asn					PLOD2_uc011bnm.1_Missense_Mutation_p.K80N|PLOD2_uc003evr.1_Missense_Mutation_p.K135N	p.K135N	NM_000935	NP_000926	O00469	PLOD2_HUMAN			4	911	-			135					B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.405A>C	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.976096	0.74360	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950;ENST00000469350	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.16	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.38852	0.1056	M	0.66506	2.035	0.80722	D	1	D;D;P	0.76494	0.999;0.991;0.593	D;P;B	0.81914	0.995;0.889;0.274	T	0.17410	-1.0370	10	0.56958	D	0.05	-8.9366	6.9347	0.24461	0.0:0.2323:0.0:0.7677	.	80;135;135	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	N	135;135;80;107	ENSP00000282903:K135N;ENSP00000353170:K135N;ENSP00000420094:K80N;ENSP00000419963:K107N	ENSP00000282903:K135N	K	-	3	2	PLOD2	147310859	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.137000	0.31479	1.940000	0.56252	0.477000	0.44152	AAA		0.388	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		39	117	0	0	0	0	39	117				
CPB1	1360	broad.mit.edu	37	3	148558763	148558763	+	Splice_Site	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:148558763G>T	ENST00000491148.1	+	6	808		c.e6+1		CPB1_ENST00000282957.4_Splice_Site			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)							extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CCTCCTGAAGGTAATCATTTT	0.443																																						uc003ewl.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.e5+1		pancreatic carboxypeptidase B1 preproprotein							112.0	94.0	100.0					3																	148558763		2203	4300	6503	SO:0001630	splice_region_variant	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148558763G>T	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.474+1G>T	3.37:g.148558763G>T							p.K158_splice	NM_001871	NP_001862	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		5	497	+								O60834|Q53XJ0|Q96BQ8	Splice_Site	SNP	ENST00000491148.1	37	c.474_splice	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454624	0.63290	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9692	0.92708	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPB1	150041453	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	8.594000	0.90836	2.473000	0.83533	0.655000	0.94253	.		0.443	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871	Intron	24	121	1	0	5.35e-11	6.44e-11	24	121				
DHX36	170506	broad.mit.edu	37	3	154013097	154013097	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:154013097C>T	ENST00000496811.1	-	13	1661	c.1581G>A	c.(1579-1581)ctG>ctA	p.L527L	DHX36_ENST00000329463.5_Intron|DHX36_ENST00000544526.1_Intron|DHX36_ENST00000308361.6_Silent_p.L527L	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	527	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGTAGGCATCAGTGAATGTA	0.303																																						uc003ezy.3		NA																	0				skin(1)	1						c.(1579-1581)CTG>CTA		DEAH (Asp-Glu-Ala-His) box polypeptide 36							36.0	34.0	35.0					3																	154013097		2201	4291	6492	SO:0001819	synonymous_variant	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154013097C>T	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1581G>A	3.37:g.154013097C>T						DHX36_uc010hvq.2_Intron|DHX36_uc003ezz.3_Silent_p.L527L	p.L527L	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		13	1662	-			527			Nuclear localization signal.|Helicase C-terminal.		B2RB00|Q70JU3|Q8IYE5|Q9P240	Silent	SNP	ENST00000496811.1	37	c.1581G>A	CCDS3171.1																																																																																				0.303	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		14	39	0	0	0	0	14	39				
GPR149	344758	broad.mit.edu	37	3	154055728	154055728	+	Silent	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:154055728T>A	ENST00000389740.2	-	4	2055	c.1956A>T	c.(1954-1956)ctA>ctT	p.L652L		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	652					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGGAGTAACGTAGGGATGGAG	0.428																																						uc003faa.2		NA																	0				ovary(6)	6						c.(1954-1956)CTA>CTT		G protein-coupled receptor 149							163.0	152.0	156.0					3																	154055728		1976	4158	6134	SO:0001819	synonymous_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154055728T>A	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1956A>T	3.37:g.154055728T>A							p.L652L	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	2056	-			652			Cytoplasmic (Potential).			Silent	SNP	ENST00000389740.2	37	c.1956A>T	CCDS43162.1																																																																																				0.428	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		77	251	0	0	0	0	77	251				
MME	4311	broad.mit.edu	37	3	154859798	154859798	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:154859798T>G	ENST00000460393.1	+	11	1096	c.976T>G	c.(976-978)Ttc>Gtc	p.F326V	MME_ENST00000493237.1_Missense_Mutation_p.F326V|MME_ENST00000492661.1_Missense_Mutation_p.F326V|MME_ENST00000462745.1_Missense_Mutation_p.F326V|MME_ENST00000360490.2_Missense_Mutation_p.F326V	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	326					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CTGGTTGAATTTCACAAATGA	0.358																																						uc010hvr.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(976-978)TTC>GTC		membrane metallo-endopeptidase	Candoxatril(DB00616)						75.0	77.0	77.0					3																	154859798		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154859798T>G		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.976T>G	3.37:g.154859798T>G	ENSP00000418525:p.Phe326Val					MME_uc003fab.1_Missense_Mutation_p.F326V|MME_uc003fac.1_Missense_Mutation_p.F326V|MME_uc003fad.1_Missense_Mutation_p.F326V|MME_uc003fae.1_Missense_Mutation_p.F326V	p.F326V	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		11	1187	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	326			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.976T>G	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.316881	0.81469	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84	6.02	6.02	0.97574	Peptidase M13 (1);	0.465902	0.27000	N	0.021435	D	0.84804	0.5553	M	0.80183	2.485	0.80722	D	1	D	0.58620	0.983	P	0.57283	0.817	D	0.86878	0.2040	10	0.87932	D	0	-25.166	16.5311	0.84359	0.0:0.0:0.0:1.0	.	326	P08473	NEP_HUMAN	V	326	ENSP00000420389:F326V;ENSP00000418525:F326V;ENSP00000419653:F326V;ENSP00000417079:F326V;ENSP00000353679:F326V	ENSP00000353679:F326V	F	+	1	0	MME	156342492	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.794000	0.75135	2.306000	0.77630	0.482000	0.46254	TTC		0.358	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		58	133	0	0	0	0	58	133				
RSRC1	51319	broad.mit.edu	37	3	158072664	158072664	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:158072664A>C	ENST00000295930.3	+	6	712	c.550A>C	c.(550-552)Aaa>Caa	p.K184Q	RSRC1_ENST00000480820.1_Missense_Mutation_p.K184Q|RSRC1_ENST00000464171.1_Missense_Mutation_p.K126Q|RSRC1_ENST00000475278.2_Missense_Mutation_p.K184Q|RSRC1_ENST00000312179.6_Missense_Mutation_p.K126Q	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	184					mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				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)			TGAACAGGCCAAAGCCAGACT	0.358																																						uc003fbt.2		NA																	0					0						c.(550-552)AAA>CAA		arginine/serine-rich coiled-coil 1							27.0	29.0	28.0					3																	158072664		2203	4298	6501	SO:0001583	missense	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:158072664A>C	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.550A>C	3.37:g.158072664A>C	ENSP00000295930:p.Lys184Gln					RSRC1_uc011bou.1_Missense_Mutation_p.K126Q|RSRC1_uc003fbu.1_Missense_Mutation_p.K184Q|RSRC1_uc003fbv.2_Missense_Mutation_p.K126Q	p.K184Q	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		6	661	+			184			Potential.		A8K2R9|Q96QK2|Q9NZE5	Missense_Mutation	SNP	ENST00000295930.3	37	c.550A>C	CCDS3181.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.8|23.8	4.456906|4.456906	0.84317|0.84317	.|.	.|.	ENSG00000174891|ENSG00000174891	ENST00000480820;ENST00000295930;ENST00000471994;ENST00000464171;ENST00000312179;ENST00000475278;ENST00000476899|ENST00000482822	.|.	.|.	.|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.112926|.	0.64402|.	D|.	0.000019|.	T|T	0.72036|0.72036	0.3411|0.3411	M|M	0.62723|0.62723	1.935|1.935	0.42066|0.42066	D|D	0.991185|0.991185	D;D;D|.	0.89917|.	0.989;1.0;1.0|.	D;D;D|.	0.85130|.	0.978;0.997;0.997|.	T|T	0.71303|0.71303	-0.4633|-0.4633	9|5	0.72032|.	D|.	0.01|.	.|.	15.9494|15.9494	0.79820|0.79820	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	126;126;184|.	B4DTW0;Q96IZ7-2;Q96IZ7|.	.;.;RSRC1_HUMAN|.	Q|P	184;184;184;126;126;184;184|77	.|.	ENSP00000295930:K184Q|.	K|Q	+|+	1|2	0|0	RSRC1|RSRC1	159555358|159555358	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.306000|6.306000	0.72810|0.72810	2.242000|2.242000	0.73789|0.73789	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.358	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		6	30	0	0	0	0	6	30				
PEX5L	51555	broad.mit.edu	37	3	179593166	179593166	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:179593166C>G	ENST00000467460.1	-	6	935	c.605G>C	c.(604-606)aGa>aCa	p.R202T	PEX5L_ENST00000472994.1_Missense_Mutation_p.R143T|PEX5L_ENST00000464614.1_Missense_Mutation_p.R94T|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000465751.1_Missense_Mutation_p.R178T|PEX5L_ENST00000468741.1_Missense_Mutation_p.R10T|PEX5L_ENST00000485199.1_Missense_Mutation_p.R167T|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.R94T|PEX5L_ENST00000263962.8_Missense_Mutation_p.R200T|PEX5L_ENST00000476138.1_Missense_Mutation_p.R159T	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	202					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGATCCAGTTCTAGATGAGGA	0.378																																						uc003fki.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(604-606)AGA>ACA		peroxisomal biogenesis factor 5-like							201.0	179.0	186.0					3																	179593166		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179593166C>G	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.605G>C	3.37:g.179593166C>G	ENSP00000419975:p.Arg202Thr					PEX5L_uc011bqd.1_Missense_Mutation_p.R159T|PEX5L_uc011bqe.1_Missense_Mutation_p.R10T|PEX5L_uc011bqf.1_Missense_Mutation_p.R94T|PEX5L_uc003fkj.1_Missense_Mutation_p.R167T|PEX5L_uc010hxd.1_Missense_Mutation_p.R200T|PEX5L_uc011bqg.1_Missense_Mutation_p.R178T|PEX5L_uc011bqh.1_Missense_Mutation_p.R143T	p.R202T	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		6	735	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		202					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.605G>C	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973518	0.53720	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721;ENST00000491640;ENST00000469198	D;D;D;D;D;D;D;D;D	0.88431	-2.37;-2.38;-2.34;-2.35;-2.34;-2.34;-2.34;-2.35;-2.35	5.88	5.88	0.94601	.	0.202042	0.52532	D	0.000063	T	0.82130	0.4970	N	0.22421	0.69	0.54753	D	0.999986	P;B;B;P;P;P	0.38370	0.495;0.276;0.118;0.628;0.628;0.495	B;B;B;B;B;B	0.36922	0.119;0.049;0.049;0.184;0.236;0.119	T	0.82920	-0.0218	10	0.51188	T	0.08	-9.9263	13.4402	0.61108	0.0:0.9287:0.0:0.0713	.	143;178;94;200;167;202	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	T	202;200;167;200;94;10;159;90;143;94;178;10;10;191	ENSP00000419975:R202T;ENSP00000263962:R200T;ENSP00000418440:R167T;ENSP00000376420:R94T;ENSP00000418665:R10T;ENSP00000420555:R159T;ENSP00000418054:R143T;ENSP00000417270:R94T;ENSP00000419348:R178T	ENSP00000263962:R200T	R	-	2	0	PEX5L	181075860	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.768000	0.55295	2.788000	0.95919	0.650000	0.86243	AGA		0.378	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		43	202	0	0	0	0	43	202				
CRYGS	1427	broad.mit.edu	37	3	186257301	186257301	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:186257301C>T	ENST00000392499.2	-	3	446	c.107G>A	c.(106-108)cGc>cAc	p.R36H	CRYGS_ENST00000307944.5_Missense_Mutation_p.R36H	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	36	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|morphogenesis of an epithelium (GO:0002009)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		GGAGTTGCAGCGACTTAGGTA	0.463																																						uc003fqe.2		NA																	0					0						c.(106-108)CGC>CAC		crystallin, gamma S							111.0	96.0	101.0					3																	186257301		2203	4300	6503	SO:0001583	missense	1427						structural constituent of eye lens	g.chr3:186257301C>T		CCDS3275.1	3q27.3	2013-02-14			ENSG00000213139	ENSG00000213139			2417	protein-coding gene	gene with protein product	"""crystallin, gamma 8"""	123730		CRYG8			Standard	NM_017541		Approved		uc003fqe.3	P22914	OTTHUMG00000156615	ENST00000392499.2:c.107G>A	3.37:g.186257301C>T	ENSP00000376287:p.Arg36His					CRYGS_uc003fqf.2_Missense_Mutation_p.R36H	p.R36H	NM_017541	NP_060011	P22914	CRBS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)	2	159	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		36			Beta/gamma crystallin 'Greek key' 1.		B2RAF8	Missense_Mutation	SNP	ENST00000392499.2	37	c.107G>A	CCDS3275.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936015	0.73442	.	.	ENSG00000213139	ENST00000392499;ENST00000307944	T;T	0.77358	-1.09;-1.09	6.17	4.39	0.52855	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.076758	0.52532	U	0.000063	T	0.81983	0.4938	M	0.76433	2.335	0.49130	D	0.999757	D	0.65815	0.995	P	0.52514	0.701	T	0.82705	-0.0325	10	0.66056	D	0.02	.	10.6943	0.45890	0.0:0.8475:0.0:0.1525	.	36	P22914	CRBS_HUMAN	H	36	ENSP00000376287:R36H;ENSP00000312099:R36H	ENSP00000312099:R36H	R	-	2	0	CRYGS	187739995	1.000000	0.71417	0.970000	0.41538	0.997000	0.91878	4.686000	0.61700	0.941000	0.37499	0.655000	0.94253	CGC		0.463	CRYGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344784.1	NM_017541		38	138	0	0	0	0	38	138				
SLIT2	9353	broad.mit.edu	37	4	20550181	20550181	+	Splice_Site	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:20550181T>A	ENST00000504154.1	+	23	2668	c.2416T>A	c.(2416-2418)Tta>Ata	p.L806I	SLIT2_ENST00000273739.5_Splice_Site_p.L810I|SLIT2_ENST00000503823.1_Splice_Site_p.L798I|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Splice_Site_p.L802I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	806					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCTCCTCACCTTGTGAGTGTG	0.403																																						uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(2416-2418)TTA>ATA		slit homolog 2 precursor							89.0	84.0	86.0					4																	20550181		2203	4300	6503	SO:0001630	splice_region_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20550181T>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2417+1T>A	4.37:g.20550181T>A						SLIT2_uc003gps.1_Missense_Mutation_p.L798I	p.L806I	NM_004787	NP_004778	O94813	SLIT2_HUMAN			23	2620	+			806			LRR 19.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2416T>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.374583	0.82573	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	T;T;T;T;D	0.97642	-1.19;-1.19;-1.19;-1.19;-4.47	5.89	0.743	0.18347	.	0.000000	0.85682	D	0.000000	D	0.97698	0.9245	M	0.78049	2.395	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.91635	0.974;0.999	D	0.96145	0.9103	10	0.54805	T	0.06	.	9.3174	0.37943	0.0:0.3721:0.0:0.6279	.	798;806	O94813-3;O94813	.;SLIT2_HUMAN	I	798;806;810;802;802;7	ENSP00000427548:L798I;ENSP00000422591:L806I;ENSP00000273739:L810I;ENSP00000422261:L802I;ENSP00000421975:L7I	ENSP00000273739:L810I	L	+	1	2	SLIT2	20159279	0.980000	0.34600	0.962000	0.40283	0.984000	0.73092	1.082000	0.30803	-0.070000	0.12908	0.460000	0.39030	TTA		0.403	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		Missense_Mutation	28	72	0	0	0	0	28	72				
GBA3	57733	broad.mit.edu	37	4	22694648	22694648	+	RNA	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:22694648C>A	ENST00000503442.1	+	0	101				GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CATGGCTTTCCCTGCAGGATT	0.527																																						uc003gqp.3		NA																	0					0						c.(10-12)CCT>ACT		cytosolic beta-glucosidase isoform a							43.0	46.0	45.0					4																	22694648		1903	4121	6024			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22694648C>A	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22694648C>A						GBA3_uc010iep.2_Missense_Mutation_p.P4T	p.P4T	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			1	101	+			4					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.10C>A																																																																																					0.527	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			5	13	1	0	1.24e-05	1.38e-05	5	13				
PCDH7	5099	broad.mit.edu	37	4	31144302	31144302	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:31144302G>T	ENST00000543491.1	+	3	3599	c.3599G>T	c.(3598-3600)cGc>cTc	p.R1200L				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATGGGTGACCGCAACAGAAAC	0.502																																						uc011bxx.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(3574-3576)CGC>CTC		protocadherin 7 isoform a precursor							100.0	100.0	100.0					4																	31144302		1929	4136	6065	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:31144302G>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3599G>T	4.37:g.31144302G>T	ENSP00000441802:p.Arg1200Leu					PCDH7_uc011bxw.1_Missense_Mutation_p.R1145L	p.R1192L	NM_002589	NP_002580	O60245	PCDH7_HUMAN			3	4583	+			Error:Variant_position_missing_in_O60245_after_alignment					O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000543491.1	37	c.3575G>T	CCDS54753.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327884	0.81690	.	.	ENSG00000169851	ENST00000543491;ENST00000333135	T	0.52057	0.68	5.87	5.87	0.94306	.	.	.	.	.	T	0.64349	0.2590	L	0.44542	1.39	0.80722	D	1	P;D	0.67145	0.93;0.996	P;D	0.79108	0.467;0.992	T	0.60994	-0.7152	9	0.52906	T	0.07	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1200;1145	F5GWJ1;O60245-3	.;.	L	1200;1145	ENSP00000441802:R1200L	ENSP00000330302:R1145L	R	+	2	0	PCDH7	30753400	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.358000	0.73055	2.941000	0.99782	0.655000	0.94253	CGC		0.502	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032457, NM_002589		18	139	1	0	1.56e-12	1.91e-12	18	139				
SHISA3	152573	broad.mit.edu	37	4	42403085	42403085	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:42403085C>G	ENST00000319234.4	+	2	552	c.334C>G	c.(334-336)Ctg>Gtg	p.L112V		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	112					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GTTCATCATCCTGGGCTCTGT	0.502																																						uc003gwp.2		NA																	0				ovary(1)|skin(1)	2						c.(334-336)CTG>GTG		shisa homolog 3 precursor							216.0	218.0	218.0					4																	42403085		2203	4300	6503	SO:0001583	missense	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403085C>G	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.334C>G	4.37:g.42403085C>G	ENSP00000326445:p.Leu112Val						p.L112V	NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN			2	552	+			112			Helical; (Potential).		A0PJX3|Q96EQ5	Missense_Mutation	SNP	ENST00000319234.4	37	c.334C>G	CCDS33979.1	.	.	.	.	.	.	.	.	.	.	C	9.184	1.024414	0.19433	.	.	ENSG00000178343	ENST00000319234	T	0.36157	1.27	4.94	2.53	0.30540	.	0.073029	0.53938	D	0.000052	T	0.11750	0.0286	N	0.03983	-0.305	0.40376	D	0.979397	B	0.12630	0.006	B	0.15052	0.012	T	0.19321	-1.0309	10	0.05833	T	0.94	-3.5176	5.0576	0.14540	0.0:0.4494:0.2872:0.2634	.	112	A0PJX4	SHSA3_HUMAN	V	112	ENSP00000326445:L112V	ENSP00000326445:L112V	L	+	1	2	SHISA3	42097842	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.285000	0.51716	0.359000	0.24239	0.655000	0.94253	CTG		0.502	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		78	235	0	0	0	0	78	235				
GRXCR1	389207	broad.mit.edu	37	4	42964954	42964954	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:42964954A>T	ENST00000399770.2	+	2	430	c.430A>T	c.(430-432)Acc>Tcc	p.T144S		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	144	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GATTTATACCACCTGCCTTCG	0.383																																						uc003gwt.2		NA																	0				ovary(1)	1						c.(430-432)ACC>TCC		glutaredoxin, cysteine rich 1							170.0	163.0	165.0					4																	42964954		1870	4105	5975	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42964954A>T		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.430A>T	4.37:g.42964954A>T	ENSP00000382670:p.Thr144Ser						p.T144S	NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN			2	430	+			144			Glutaredoxin.			Missense_Mutation	SNP	ENST00000399770.2	37	c.430A>T	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.560924	0.86335	.	.	ENSG00000215203	ENST00000399770	T	0.28255	1.62	5.78	5.78	0.91487	Glutaredoxin (2);Thioredoxin-like fold (2);	0.000000	0.64402	U	0.000001	T	0.52306	0.1726	L	0.60904	1.88	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.52961	-0.8505	10	0.62326	D	0.03	-1.136	15.2809	0.73784	1.0:0.0:0.0:0.0	.	144	A8MXD5	GRCR1_HUMAN	S	144	ENSP00000382670:T144S	ENSP00000382670:T144S	T	+	1	0	GRXCR1	42659711	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.962000	0.93254	2.199000	0.70637	0.533000	0.62120	ACC		0.383	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		58	250	0	0	0	0	58	250				
LPHN3	23284	broad.mit.edu	37	4	62897294	62897294	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:62897294T>C	ENST00000514591.1	+	22	3682	c.3353T>C	c.(3352-3354)tTt>tCt	p.F1118S	LPHN3_ENST00000509896.1_Missense_Mutation_p.F1186S|LPHN3_ENST00000512091.2_Missense_Mutation_p.F1118S|LPHN3_ENST00000514157.1_Missense_Mutation_p.F1109S|LPHN3_ENST00000504896.1_Missense_Mutation_p.F1118S|LPHN3_ENST00000514996.1_Missense_Mutation_p.F1109S|LPHN3_ENST00000506746.1_Missense_Mutation_p.F1177S|LPHN3_ENST00000507164.1_Missense_Mutation_p.F1177S|LPHN3_ENST00000506720.1_Missense_Mutation_p.F1186S|LPHN3_ENST00000511324.1_Missense_Mutation_p.F1177S|LPHN3_ENST00000506700.1_Missense_Mutation_p.F1109S|LPHN3_ENST00000508946.1_Missense_Mutation_p.F1118S|LPHN3_ENST00000508693.1_Missense_Mutation_p.F1186S|LPHN3_ENST00000545650.1_Missense_Mutation_p.F1118S|LPHN3_ENST00000507625.1_Missense_Mutation_p.F1177S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1096					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CAGGGAATGTTTATATTTATT	0.348																																						uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(3352-3354)TTT>TCT		latrophilin 3 precursor							84.0	81.0	82.0					4																	62897294		1814	4081	5895	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62897294T>C	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3353T>C	4.37:g.62897294T>C	ENSP00000422533:p.Phe1118Ser					LPHN3_uc003hcq.3_Missense_Mutation_p.F1118S|LPHN3_uc003hct.2_Missense_Mutation_p.F502S	p.F1118S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			20	3526	+			1096			Helical; Name=7; (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.3353T>C	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344599	0.82022	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.49	5.49	0.81192	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.78457	0.4286	M	0.91612	3.225	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.994	D	0.83948	0.0315	10	0.87932	D	0	.	15.5873	0.76495	0.0:0.0:0.0:1.0	.	1118;1096;1118	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	S	1118;1118;1186;1177;1109;1118;1096;1118;1177;1186;1177;1109;1118;1118;1186;1177;1109	ENSP00000423388:F1118S;ENSP00000422533:F1118S;ENSP00000423787:F1186S;ENSP00000425033:F1177S;ENSP00000424120:F1109S;ENSP00000439831:F1118S;ENSP00000421476:F1177S;ENSP00000424030:F1186S;ENSP00000421372:F1177S;ENSP00000425201:F1109S;ENSP00000423434:F1118S;ENSP00000421627:F1118S;ENSP00000420931:F1186S;ENSP00000425884:F1177S;ENSP00000424258:F1109S	ENSP00000280009:F1118S	F	+	2	0	LPHN3	62579889	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.004000	0.88535	2.089000	0.63090	0.533000	0.62120	TTT		0.348	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			22	106	0	0	0	0	22	106				
TIGD2	166815	broad.mit.edu	37	4	90034966	90034966	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:90034966A>C	ENST00000317005.2	+	1	999	c.841A>C	c.(841-843)Aag>Cag	p.K281Q	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	281	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TTTGAAATCCAAGGGACTTTT	0.388																																						uc003hsk.2		NA																	0					0						c.(841-843)AAG>CAG		tigger transposable element derived 2							67.0	69.0	68.0					4																	90034966		2203	4299	6502	SO:0001583	missense	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90034966A>C	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.841A>C	4.37:g.90034966A>C	ENSP00000317170:p.Lys281Gln					FAM13A_uc003hsh.1_5'Flank	p.K281Q	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	999	+		Hepatocellular(203;0.114)	281			DDE.			Missense_Mutation	SNP	ENST00000317005.2	37	c.841A>C	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	A	5.059	0.196623	0.09599	.	.	ENSG00000180346	ENST00000317005	T	0.25749	1.78	4.49	0.608	0.17569	.	0.511390	0.16099	N	0.229656	T	0.20373	0.0490	M	0.62723	1.935	0.09310	N	0.999999	B	0.11235	0.004	B	0.21708	0.036	T	0.34179	-0.9839	10	0.14252	T	0.57	-2.2416	4.3743	0.11263	0.4316:0.3769:0.1915:0.0	.	281	Q4W5G0	TIGD2_HUMAN	Q	281	ENSP00000317170:K281Q	ENSP00000317170:K281Q	K	+	1	0	TIGD2	90253989	0.897000	0.30589	0.693000	0.30195	0.918000	0.54935	1.371000	0.34250	-0.027000	0.13873	-0.472000	0.04984	AAG		0.388	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		21	89	0	0	0	0	21	89				
GPRIN3	285513	broad.mit.edu	37	4	90170592	90170592	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:90170592G>T	ENST00000609438.1	-	2	1188	c.670C>A	c.(670-672)Cag>Aag	p.Q224K	GPRIN3_ENST00000333209.4_Missense_Mutation_p.Q224K	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	224										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ATGGCTCCCTGCCTTTCCCCT	0.537																																						uc003hsm.1		NA																	0				ovary(3)	3						c.(670-672)CAG>AAG		G protein-regulated inducer of neurite outgrowth							53.0	55.0	54.0					4																	90170592		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90170592G>T	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.670C>A	4.37:g.90170592G>T	ENSP00000476603:p.Gln224Lys						p.Q224K	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1189	-		Hepatocellular(203;0.114)	224					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.670C>A	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	7.408	0.634156	0.14322	.	.	ENSG00000185477	ENST00000333209	T	0.12984	2.63	4.95	2.19	0.27852	.	0.266149	0.20064	N	0.100012	T	0.08714	0.0216	L	0.29908	0.895	0.09310	N	1	B	0.32829	0.386	B	0.34242	0.178	T	0.35699	-0.9778	10	0.10902	T	0.67	0.0011	8.4867	0.33076	0.0:0.3194:0.5153:0.1652	.	224	Q6ZVF9	GRIN3_HUMAN	K	224	ENSP00000328672:Q224K	ENSP00000328672:Q224K	Q	-	1	0	GPRIN3	90389615	0.178000	0.23122	0.000000	0.03702	0.001000	0.01503	2.505000	0.45424	0.335000	0.23614	-0.175000	0.13238	CAG		0.537	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		41	80	1	0	4.14e-20	5.34e-20	41	80				
SEC24B	10427	broad.mit.edu	37	4	110445990	110445990	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:110445990G>A	ENST00000265175.5	+	15	2580	c.2525G>A	c.(2524-2526)gGc>gAc	p.G842D	SEC24B_ENST00000504968.2_Missense_Mutation_p.G872D|SEC24B_ENST00000399100.2_Missense_Mutation_p.G807D	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	842					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAACATCTTGGCCCTGCAACT	0.358																																						uc003hzk.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(2524-2526)GGC>GAC		SEC24 (S. cerevisiae) homolog B isoform a							124.0	118.0	119.0					4																	110445990		1845	4090	5935	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110445990G>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2525G>A	4.37:g.110445990G>A	ENSP00000265175:p.Gly842Asp					SEC24B_uc003hzl.2_Missense_Mutation_p.G807D|SEC24B_uc011cfp.1_Missense_Mutation_p.G872D|SEC24B_uc011cfq.1_Missense_Mutation_p.G841D|SEC24B_uc011cfr.1_Missense_Mutation_p.G806D	p.G842D	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	15	2580	+		Hepatocellular(203;0.217)	842					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.2525G>A	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841323	0.71488	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.40476	1.03;1.03;1.03	6.17	5.31	0.75309	Sec23/Sec24, trunk domain (1);	0.046528	0.85682	D	0.000000	T	0.60431	0.2268	M	0.73217	2.22	0.58432	D	0.999999	D;P;D;D;D	0.57257	0.979;0.947;0.979;0.974;0.979	P;P;P;P;P	0.60886	0.781;0.538;0.88;0.81;0.88	T	0.54781	-0.8242	10	0.33940	T	0.23	-17.2258	17.0573	0.86537	0.0:0.0:0.8725:0.1275	.	756;441;872;807;842	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	D	872;807;842	ENSP00000428564:G872D;ENSP00000382051:G807D;ENSP00000265175:G842D	ENSP00000265175:G842D	G	+	2	0	SEC24B	110665439	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.048000	0.49862	2.941000	0.99782	0.655000	0.94253	GGC		0.358	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			35	113	0	0	0	0	35	113				
ANK2	287	broad.mit.edu	37	4	114278087	114278087	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:114278087C>T	ENST00000357077.4	+	38	8366	c.8313C>T	c.(8311-8313)atC>atT	p.I2771I	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.I2738I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2771					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGCCAAAAATCTGTGATGGCC	0.478																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(8311-8313)ATC>ATT		ankyrin 2 isoform 1							78.0	71.0	74.0					4																	114278087		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114278087C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8313C>T	4.37:g.114278087C>T						ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Silent_p.I73I|ANK2_uc011cgb.1_Silent_p.I2786I	p.I2771I	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8413	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2738					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.8313C>T	CCDS3702.1																																																																																				0.478	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		21	86	0	0	0	0	21	86				
KIAA1109	84162	broad.mit.edu	37	4	123113395	123113395	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:123113395G>C	ENST00000264501.4	+	11	1286	c.913G>C	c.(913-915)Gaa>Caa	p.E305Q	KIAA1109_ENST00000388738.3_Missense_Mutation_p.E305Q|KIAA1109_ENST00000455637.1_Missense_Mutation_p.E305Q			Q2LD37	K1109_HUMAN	KIAA1109	305					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACTTGTTCCGGAAGAAACAGA	0.363																																						uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(913-915)GAA>CAA		fragile site-associated protein							89.0	84.0	86.0					4																	123113395		1832	4075	5907	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123113395G>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.913G>C	4.37:g.123113395G>C	ENSP00000264501:p.Glu305Gln					KIAA1109_uc003iei.1_Missense_Mutation_p.E59Q	p.E305Q	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			9	958	+			305					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.913G>C	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.92|19.92	3.915891|3.915891	0.73098|0.73098	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	T;T;T|.	0.25085|.	2.41;2.41;1.82|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.841724|.	0.09965|.	U|.	0.732924|.	T|T	0.70491|0.70491	0.3230|0.3230	L|L	0.47190|0.47190	1.495|1.495	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.56968|.	0.978|.	P|.	0.51324|.	0.666|.	T|T	0.64381|0.64381	-0.6421|-0.6421	10|5	0.49607|.	T|.	0.09|.	.|.	20.3363|20.3363	0.98740|0.98740	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	305|.	Q2LD37|.	K1109_HUMAN|.	Q|A	305|137	ENSP00000264501:E305Q;ENSP00000373390:E305Q;ENSP00000389925:E305Q|.	ENSP00000264501:E305Q|.	E|G	+|+	1|2	0|0	KIAA1109|KIAA1109	123332845|123332845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.630000|9.630000	0.98420|0.98420	2.814000|2.814000	0.96858|0.96858	0.563000|0.563000	0.77884|0.77884	GAA|GGA		0.363	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		14	53	0	0	0	0	14	53				
IL21	59067	broad.mit.edu	37	4	123542011	123542011	+	Silent	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:123542011A>G	ENST00000264497.3	-	1	213	c.156T>C	c.(154-156)taT>taC	p.Y52Y	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	45					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						AGTCATTCACATAATTTTTCA	0.343																																						uc003ies.2		NA																	0					0						c.(154-156)TAT>TAC		interleukin 21							106.0	104.0	104.0					4																	123542011		2203	4300	6503	SO:0001819	synonymous_variant	59067				cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	g.chr4:123542011A>G	AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"""Interleukins and interleukin receptors"""	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.156T>C	4.37:g.123542011A>G						uc003iet.2_Intron|IL21_uc010int.2_Silent_p.Y45Y	p.Y52Y	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN			1	201	-			45					A5J0L4	Silent	SNP	ENST00000264497.3	37	c.156T>C	CCDS3727.1																																																																																				0.343	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803		35	103	0	0	0	0	35	103				
FGF2	2247	broad.mit.edu	37	4	123748456	123748456	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:123748456A>T	ENST00000608478.1	+	1	471	c.127A>T	c.(127-129)Atc>Ttc	p.I43F	AC021205.1_ENST00000517260.1_RNA|FGF2_ENST00000264498.3_Missense_Mutation_p.I176F			P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	176					activation of MAPK activity (GO:0000187)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|embryonic morphogenesis (GO:0048598)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hyaluronan catabolic process (GO:0030214)|innate immune response (GO:0045087)|inositol phosphate biosynthetic process (GO:0032958)|insulin receptor signaling pathway (GO:0008286)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell death (GO:0060548)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of wound healing (GO:0061045)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell fate specification (GO:0042660)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|release of sequestered calcium ion into cytosol (GO:0051209)|signal transduction (GO:0007165)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)|Sirolimus(DB00877)|Sucralfate(DB00364)	CTTCCTGCGCATCCACCCCGA	0.667																																						uc003iev.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(526-528)ATC>TTC		fibroblast growth factor 2	Pentosan Polysulfate(DB00686)						18.0	22.0	21.0					4																	123748456		1804	3768	5572	SO:0001583	missense	2247				activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity	g.chr4:123748456A>T	J04513	CCDS34059.1	4q26	2014-01-30			ENSG00000138685	ENSG00000138685		"""Endogenous ligands"""	3676	protein-coding gene	gene with protein product		134920		FGFB		9925931	Standard	NM_002006		Approved		uc003iev.1	P09038	OTTHUMG00000039506	ENST00000608478.1:c.127A>T	4.37:g.123748456A>T	ENSP00000477134:p.Ile43Phe						p.I176F	NM_002006	NP_001997	P09038	FGF2_HUMAN			1	594	+			176					A4LBB8|O00527|P78443|Q16443|Q5PY50|Q7KZ11|Q7KZ72|Q9UC54|Q9UCS5|Q9UCS6	Missense_Mutation	SNP	ENST00000608478.1	37	c.526A>T		.	.	.	.	.	.	.	.	.	.	a	22.1	4.242580	0.79912	.	.	ENSG00000138685	ENST00000264498	D	0.85955	-2.05	3.56	2.31	0.28768	.	0.284067	0.32273	N	0.006338	D	0.91928	0.7444	M	0.88241	2.94	0.47737	D	0.999503	D	0.89917	1.0	D	0.91635	0.999	D	0.92847	0.6294	9	0.87932	D	0	.	8.8378	0.35123	0.8316:0.0:0.0:0.1684	.	176	P09038	FGF2_HUMAN	F	176	ENSP00000264498:I176F	ENSP00000264498:I176F	I	+	1	0	FGF2	123967906	1.000000	0.71417	0.547000	0.28179	0.686000	0.39977	7.511000	0.81718	0.345000	0.23873	0.330000	0.21533	ATC		0.667	FGF2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472102.1	NM_002006		18	49	0	0	0	0	18	49				
FAT4	79633	broad.mit.edu	37	4	126238150	126238150	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:126238150G>T	ENST00000394329.3	+	1	597	c.584G>T	c.(583-585)gGc>gTc	p.G195V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	195	Cadherin 2. {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)			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						AACCCGAGCGGCGAGGGAGCG	0.642											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(583-585)GGC>GTC		FAT tumor suppressor homolog 4 precursor							43.0	50.0	48.0					4																	126238150		2080	4203	6283	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126238150G>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.584G>T	4.37:g.126238150G>T	ENSP00000377862:p.Gly195Val		OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.G195V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	584	+			195			Cadherin 2.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.584G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920823	0.52653	.	.	ENSG00000196159	ENST00000394329	T	0.78364	-1.17	5.41	4.57	0.56435	Cadherin (4);Cadherin-like (1);	0.000000	0.35067	U	0.003472	D	0.89061	0.6608	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89829	0.3994	10	0.72032	D	0.01	.	9.6519	0.39904	0.0741:0.1412:0.7847:0.0	.	195	Q6V0I7	FAT4_HUMAN	V	195	ENSP00000377862:G195V	ENSP00000377862:G195V	G	+	2	0	FAT4	126457600	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.829000	0.86735	1.272000	0.44329	0.655000	0.94253	GGC		0.642	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		11	41	1	0	0.000673444	0.000714549	11	41				
PCDH18	54510	broad.mit.edu	37	4	138452014	138452014	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:138452014G>A	ENST00000344876.4	-	1	1615	c.1229C>T	c.(1228-1230)aCa>aTa	p.T410I	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.T410I|PCDH18_ENST00000507846.1_Missense_Mutation_p.T190I|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	410	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTTTTCATATGTCTTCTGAAG	0.393																																						uc003ihe.3		NA																	0				pancreas(3)|skin(2)	5						c.(1228-1230)ACA>ATA		protocadherin 18 precursor							109.0	117.0	114.0					4																	138452014		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452014G>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1229C>T	4.37:g.138452014G>A	ENSP00000355082:p.Thr410Ile					PCDH18_uc003ihf.3_Missense_Mutation_p.T403I|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.T190I|PCDH18_uc011cha.1_Intron	p.T410I	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	1616	-	all_hematologic(180;0.24)		410			Cadherin 4.|Extracellular (Potential).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1229C>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815940	0.32145	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.29655	1.56;1.56;1.56	6.03	3.32	0.38043	Cadherin (4);Cadherin-like (1);	0.333162	0.21153	N	0.079300	T	0.50240	0.1604	L	0.61036	1.89	0.80722	D	1	D;B;D	0.69078	0.989;0.171;0.997	D;B;D	0.69142	0.962;0.138;0.931	T	0.49082	-0.8976	10	0.87932	D	0	.	12.9293	0.58278	0.0:0.2332:0.6455:0.1213	.	190;410;410	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	I	410;410;190	ENSP00000355082:T410I;ENSP00000390688:T410I;ENSP00000425903:T190I	ENSP00000355082:T410I	T	-	2	0	PCDH18	138671464	1.000000	0.71417	0.898000	0.35279	0.782000	0.44232	4.744000	0.62118	0.399000	0.25367	0.557000	0.71058	ACA		0.393	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		31	150	0	0	0	0	31	150				
ELF2	1998	broad.mit.edu	37	4	139981705	139981705	+	Silent	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:139981705A>G	ENST00000394235.2	-	9	1396	c.894T>C	c.(892-894)gaT>gaC	p.D298D	ELF2_ENST00000379549.2_Silent_p.D221D|ELF2_ENST00000358635.3_Silent_p.D250D|ELF2_ENST00000510408.1_Silent_p.D238D|ELF2_ENST00000515489.1_5'UTR|ELF2_ENST00000379550.1_Silent_p.D310D|ELF2_ENST00000265495.4_Silent_p.D298D	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TTCCTGCTAAATCTTCATTAC	0.393																																						uc003ihp.1		NA																	0				ovary(1)|skin(1)	2						c.(892-894)GAT>GAC		E74-like factor 2 (ets domain transcription							120.0	113.0	115.0					4																	139981705		2203	4300	6503	SO:0001819	synonymous_variant	1998				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity	g.chr4:139981705A>G	AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.894T>C	4.37:g.139981705A>G						ELF2_uc003ihm.1_Silent_p.D250D|ELF2_uc003ihn.1_Silent_p.D238D|ELF2_uc003iho.1_Silent_p.D221D|ELF2_uc011chc.1_Silent_p.D113D	p.D298D	NM_201999	NP_973728	Q15723	ELF2_HUMAN			8	1100	-	all_hematologic(180;0.162)		310						Silent	SNP	ENST00000394235.2	37	c.894T>C	CCDS3744.1																																																																																				0.393	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874		48	211	0	0	0	0	48	211				
ZNF330	27309	broad.mit.edu	37	4	142155086	142155086	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:142155086G>T	ENST00000262990.4	+	10	1134	c.906G>T	c.(904-906)ttG>ttT	p.L302F	ZNF330_ENST00000421169.2_Missense_Mutation_p.L242F	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	302						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					TTACTAATTTGAATTTAGGAA	0.458																																						uc003iiq.3		NA																	0					0						c.(904-906)TTG>TTT		zinc finger protein 330							120.0	127.0	124.0					4																	142155086		2203	4300	6503	SO:0001583	missense	27309					chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	g.chr4:142155086G>T	AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"""Zinc fingers, C2H2-type"""	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.906G>T	4.37:g.142155086G>T	ENSP00000262990:p.Leu302Phe					ZNF330_uc011chl.1_Missense_Mutation_p.L242F	p.L302F	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN			10	1126	+	all_hematologic(180;0.162)		302					B2RDA3	Missense_Mutation	SNP	ENST00000262990.4	37	c.906G>T	CCDS3754.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827475	0.50845	.	.	ENSG00000109445	ENST00000262990;ENST00000421169	T;T	0.32023	1.47;1.47	5.87	5.03	0.67393	.	0.134994	0.50627	D	0.000105	T	0.45438	0.1342	L	0.44542	1.39	0.58432	D	0.999991	D;D	0.64830	0.987;0.994	P;P	0.61533	0.755;0.89	T	0.45527	-0.9255	10	0.87932	D	0	-21.367	15.3445	0.74324	0.0669:0.0:0.9331:0.0	.	242;302	E9PDK6;Q9Y3S2	.;ZN330_HUMAN	F	302;242	ENSP00000262990:L302F;ENSP00000397397:L242F	ENSP00000262990:L302F	L	+	3	2	ZNF330	142374536	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	2.744000	0.47450	1.627000	0.50400	0.655000	0.94253	TTG		0.458	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2	NM_014487		20	107	1	0	4.27e-12	5.19e-12	20	107				
NR3C2	4306	broad.mit.edu	37	4	149357710	149357710	+	Silent	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:149357710T>C	ENST00000358102.3	-	2	665	c.303A>G	c.(301-303)gtA>gtG	p.V101V	NR3C2_ENST00000511528.1_Silent_p.V101V|NR3C2_ENST00000355292.3_Silent_p.V101V|NR3C2_ENST00000512865.1_Silent_p.V101V|NR3C2_ENST00000344721.4_Silent_p.V101V	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	101	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TGGACTCAGCTACAGTTGCTG	0.408																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.3		NA																	0				large_intestine(1)	1						c.(301-303)GTA>GTG		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						85.0	87.0	86.0					4																	149357710		2203	4300	6503	SO:0001819	synonymous_variant	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149357710T>C	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.303A>G	4.37:g.149357710T>C						NR3C2_uc003ilk.3_Silent_p.V101V|NR3C2_uc010iph.2_RNA	p.V101V	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	637	-	all_hematologic(180;0.151)		101			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.303A>G	CCDS3772.1																																																																																				0.408	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			43	166	0	0	0	0	43	166				
RNF175	285533	broad.mit.edu	37	4	154649396	154649396	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:154649396T>C	ENST00000347063.4	-	4	736	c.364A>G	c.(364-366)Aga>Gga	p.R122G	RNF175_ENST00000274068.4_Intron|RNF175_ENST00000506505.1_Intron|RP11-153M7.5_ENST00000505051.1_RNA	NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	122						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				CGGGTAGCTCTGAAGAGGATG	0.428																																						uc003int.2		NA																	0				ovary(1)|pancreas(1)	2						c.(364-366)AGA>GGA		ring finger protein 175							104.0	103.0	103.0					4																	154649396		1851	4094	5945	SO:0001583	missense	285533					integral to membrane	zinc ion binding	g.chr4:154649396T>C	BC034385	CCDS47149.1	4q31.3	2008-02-05			ENSG00000145428	ENSG00000145428		"""RING-type (C3HC4) zinc fingers"""	27735	protein-coding gene	gene with protein product							Standard	NM_173662		Approved	FLJ34190	uc003int.3	Q8N4F7	OTTHUMG00000161557	ENST00000347063.4:c.364A>G	4.37:g.154649396T>C	ENSP00000340979:p.Arg122Gly					RNF175_uc003inu.1_Intron	p.R122G	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN			4	737	-	all_hematologic(180;0.093)	Renal(120;0.118)	122					C9JL66|Q8NB61	Missense_Mutation	SNP	ENST00000347063.4	37	c.364A>G	CCDS47149.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.501476	0.64298	.	.	ENSG00000145428	ENST00000347063;ENST00000508248	T;T	0.69306	-0.39;-0.39	4.69	2.24	0.28232	.	0.122741	0.53938	N	0.000052	T	0.59555	0.2202	M	0.66939	2.045	0.80722	D	1	P	0.36789	0.57	B	0.37451	0.25	T	0.54364	-0.8305	10	0.40728	T	0.16	-4.951	6.0857	0.19966	0.0:0.0878:0.1647:0.7475	.	122	Q8N4F7	RN175_HUMAN	G	122;62	ENSP00000340979:R122G;ENSP00000427472:R62G	ENSP00000340979:R122G	R	-	1	2	RNF175	154868846	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	1.083000	0.30815	0.523000	0.28482	0.533000	0.62120	AGA		0.428	RNF175-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365286.1	NM_173662		30	69	0	0	0	0	30	69				
DCHS2	54798	broad.mit.edu	37	4	155156538	155156538	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:155156538G>C	ENST00000357232.4	-	25	7900	c.7901C>G	c.(7900-7902)tCa>tGa	p.S2634*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2634					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACTGGAGTTTGAGTGTCTGTA	0.463																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(7900-7902)TCA>TGA		dachsous 2 isoform 1							111.0	107.0	108.0					4																	155156538		2203	4300	6503	SO:0001587	stop_gained	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156538G>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7901C>G	4.37:g.155156538G>C	ENSP00000349768:p.Ser2634*						p.S2634*	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7901	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2634					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Nonsense_Mutation	SNP	ENST00000357232.4	37	c.7901C>G	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	47	13.726879	0.99759	.	.	ENSG00000197410	ENST00000357232	.	.	.	5.54	5.54	0.83059	.	0.216882	0.32134	N	0.006530	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.4946	0.95067	0.0:0.0:1.0:0.0	.	.	.	.	X	2634	.	ENSP00000349768:S2634X	S	-	2	0	DCHS2	155375988	1.000000	0.71417	0.989000	0.46669	0.666000	0.39218	7.686000	0.84128	2.599000	0.87857	0.460000	0.39030	TCA		0.463	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		45	94	0	0	0	0	45	94				
DCHS2	54798	broad.mit.edu	37	4	155156946	155156946	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:155156946G>A	ENST00000357232.4	-	25	7492	c.7493C>T	c.(7492-7494)aCc>aTc	p.T2498I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2498	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CATTTCCAAGGTGTCTTCTTT	0.368																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(7492-7494)ACC>ATC		dachsous 2 isoform 1							97.0	102.0	101.0					4																	155156946		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156946G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7493C>T	4.37:g.155156946G>A	ENSP00000349768:p.Thr2498Ile						p.T2498I	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7493	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2498			Cadherin 22.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.7493C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	1.496	-0.553417	0.03996	.	.	ENSG00000197410	ENST00000357232	T	0.61040	0.14	5.82	-1.81	0.07882	Cadherin (3);Cadherin-like (1);	0.930757	0.09158	N	0.840556	T	0.42743	0.1216	L	0.28608	0.87	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.27938	-1.0059	10	0.22109	T	0.4	.	12.7415	0.57255	0.5198:0.0:0.4802:0.0	.	2498	Q6V1P9	PCD23_HUMAN	I	2498	ENSP00000349768:T2498I	ENSP00000349768:T2498I	T	-	2	0	DCHS2	155376396	0.000000	0.05858	0.000000	0.03702	0.572000	0.35998	-0.646000	0.05403	-0.323000	0.08602	-0.444000	0.05651	ACC		0.368	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		40	151	0	0	0	0	40	151				
LRAT	9227	broad.mit.edu	37	4	155665617	155665617	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:155665617C>G	ENST00000336356.3	+	2	392	c.139C>G	c.(139-141)Cga>Gga	p.R47G	LRAT_ENST00000507827.1_Missense_Mutation_p.R47G	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	47					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CTCTTTCCACCGAGGCGACGT	0.577																																						uc003iom.1		NA																	0				central_nervous_system(1)	1						c.(139-141)CGA>GGA		lecithin retinol acyltransferase	Vitamin A(DB00162)						90.0	89.0	90.0					4																	155665617		2203	4300	6503	SO:0001583	missense	9227				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	g.chr4:155665617C>G	AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.139C>G	4.37:g.155665617C>G	ENSP00000337224:p.Arg47Gly					uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.R47G	p.R47G	NM_004744	NP_004735	O95237	LRAT_HUMAN			1	466	+	all_hematologic(180;0.215)	Renal(120;0.0458)	47			Cytoplasmic (By similarity).		A8K983|Q8N716	Missense_Mutation	SNP	ENST00000336356.3	37	c.139C>G	CCDS3789.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345736	0.61073	.	.	ENSG00000121207	ENST00000502525;ENST00000507827;ENST00000336356	T;T;T	0.24151	1.87;1.87;1.87	5.02	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	M	0.90595	3.13	0.58432	D	0.999992	D	0.89917	1.0	D	0.69142	0.962	T	0.60702	-0.7211	10	0.54805	T	0.06	-2.8798	10.5701	0.45196	0.1501:0.7054:0.1445:0.0	.	47	O95237	LRAT_HUMAN	G	47	ENSP00000422324:R47G;ENSP00000426761:R47G;ENSP00000337224:R47G	ENSP00000337224:R47G	R	+	1	2	LRAT	155885067	0.864000	0.29904	0.909000	0.35828	0.735000	0.41995	1.660000	0.37397	1.303000	0.44873	0.655000	0.94253	CGA		0.577	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744		22	151	0	0	0	0	22	151				
GLRB	2743	broad.mit.edu	37	4	158065104	158065104	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:158065104G>T	ENST00000264428.4	+	8	1167	c.897G>T	c.(895-897)gtG>gtT	p.V299V	GLRB_ENST00000509282.1_Silent_p.V299V|GLRB_ENST00000541722.1_Silent_p.V299V|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	299					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	CTGCCAGAGTGCCCCTGGGTA	0.448																																						uc003ipj.2		NA																	0				skin(2)	2						c.(895-897)GTG>GTT		glycine receptor, beta isoform A precursor	Glycine(DB00145)						126.0	110.0	116.0					4																	158065104		2203	4300	6503	SO:0001819	synonymous_variant	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158065104G>T	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.897G>T	4.37:g.158065104G>T							p.V299V	NM_000824	NP_000815	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	8	1099	+	all_hematologic(180;0.24)	Renal(120;0.0458)	299			Helical; (Probable).		A8K3K2|D3DP23|F5GWE1	Silent	SNP	ENST00000264428.4	37	c.897G>T	CCDS3796.1																																																																																				0.448	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		19	142	1	0	6.33e-15	7.87e-15	19	142				
GRIA2	2891	broad.mit.edu	37	4	158284070	158284070	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:158284070G>T	ENST00000264426.9	+	15	2805	c.2526G>T	c.(2524-2526)gaG>gaT	p.E842D	GRIA2_ENST00000449365.1_Missense_Mutation_p.E795D|GRIA2_ENST00000507898.1_Missense_Mutation_p.E795D|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000393815.2_Missense_Mutation_p.E795D|GRIA2_ENST00000296526.7_Missense_Mutation_p.E842D	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	842					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CAAGGGCCGAGGCGAAACGAA	0.453																																						uc003ipm.3		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(2524-2526)GAG>GAT		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						150.0	134.0	140.0					4																	158284070		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158284070G>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2526G>T	4.37:g.158284070G>T	ENSP00000264426:p.Glu842Asp					GRIA2_uc011cit.1_Missense_Mutation_p.E795D|GRIA2_uc003ipl.3_Missense_Mutation_p.E842D|GRIA2_uc003ipk.3_Missense_Mutation_p.E795D|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA	p.E842D	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	15	2985	+	all_hematologic(180;0.24)	Renal(120;0.0458)	842			Cytoplasmic (Potential).		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.2526G>T	CCDS43274.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.76|19.76	3.886959|3.886959	0.72410|0.72410	.|.	.|.	ENSG00000120251|ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365|ENST00000510854	T;T;T;T;T|.	0.14266|.	2.52;2.52;2.58;2.56;2.52|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83372|0.83372	0.5240|0.5240	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.998;0.998;0.982|.	D;D;D|.	0.80764|.	0.985;0.994;0.952|.	T|T	0.82868|0.82868	-0.0244|-0.0244	10|5	0.66056|.	D|.	0.02|.	.|.	20.6721|20.6721	0.99693|0.99693	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	842;842;795|.	P42262;P42262-2;A8MT92|.	GRIA2_HUMAN;.;.|.	D|C	795;795;842;842;795|173	ENSP00000426845:E795D;ENSP00000377403:E795D;ENSP00000296526:E842D;ENSP00000264426:E842D;ENSP00000389837:E795D|.	ENSP00000264426:E842D|.	E|G	+|+	3|1	2|0	GRIA2|GRIA2	158503520|158503520	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GAG|GGC		0.453	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			47	84	1	0	2.13e-23	2.78e-23	47	84				
FAM198B	51313	broad.mit.edu	37	4	159076818	159076818	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:159076818G>A	ENST00000296530.8	-	3	1691	c.1070C>T	c.(1069-1071)aCt>aTt	p.T357I	FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000393807.5_Missense_Mutation_p.T365I|FAM198B_ENST00000585682.1_Missense_Mutation_p.T357I	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	357						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						ATGTATTTCAGTACAACCCGA	0.428																																						uc003ipp.3		NA																	0					0						c.(1069-1071)ACT>ATT		hypothetical protein LOC51313 isoform 2							113.0	91.0	99.0					4																	159076818		2203	4299	6502	SO:0001583	missense	51313					Golgi membrane|integral to membrane		g.chr4:159076818G>A		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.1070C>T	4.37:g.159076818G>A	ENSP00000296530:p.Thr357Ile					FAM198B_uc003ipq.3_Missense_Mutation_p.T365I|FAM198B_uc003ipr.3_Missense_Mutation_p.T357I	p.T357I	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN			3	1522	-			357			Extracellular (Potential).		Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	c.1070C>T	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952623	0.73787	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000505460	T;T	0.32023	1.47;1.47	5.83	5.83	0.93111	.	0.167712	0.53938	D	0.000042	T	0.50718	0.1632	M	0.68952	2.095	0.80722	D	1	D;D	0.61697	0.99;0.965	P;P	0.56163	0.793;0.726	T	0.41910	-0.9482	10	0.46703	T	0.11	1.5966	20.1195	0.97955	0.0:0.0:1.0:0.0	.	365;357	Q6UWH4-2;Q6UWH4	.;F198B_HUMAN	I	357;357;365;63	ENSP00000296530:T357I;ENSP00000377396:T365I	ENSP00000296530:T357I	T	-	2	0	FAM198B	159296268	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.663000	0.68038	2.759000	0.94783	0.650000	0.86243	ACT		0.428	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		4	73	0	0	0	0	4	73				
FAM198B	51313	broad.mit.edu	37	4	159076833	159076833	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:159076833G>C	ENST00000296530.8	-	3	1676	c.1055C>G	c.(1054-1056)cCt>cGt	p.P352R	FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000393807.5_Missense_Mutation_p.P360R|FAM198B_ENST00000585682.1_Missense_Mutation_p.P352R	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	352						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						ACCCGATTCAGGCTTGGGTAC	0.413																																						uc003ipp.3		NA																	0					0						c.(1054-1056)CCT>CGT		hypothetical protein LOC51313 isoform 2							114.0	93.0	100.0					4																	159076833		2203	4299	6502	SO:0001583	missense	51313					Golgi membrane|integral to membrane		g.chr4:159076833G>C		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.1055C>G	4.37:g.159076833G>C	ENSP00000296530:p.Pro352Arg					FAM198B_uc003ipq.3_Missense_Mutation_p.P360R|FAM198B_uc003ipr.3_Missense_Mutation_p.P352R	p.P352R	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN			3	1507	-			352			Extracellular (Potential).		Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	c.1055C>G	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990517	0.74589	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000505460	T;T	0.30448	1.53;1.53	5.83	5.83	0.93111	.	0.282746	0.39909	N	0.001225	T	0.44371	0.1290	L	0.55481	1.735	0.80722	D	1	D;D	0.59357	0.985;0.967	P;P	0.54312	0.735;0.748	T	0.13629	-1.0502	10	0.44086	T	0.13	-19.0069	16.4094	0.83703	0.0:0.0:0.8681:0.1319	.	360;352	Q6UWH4-2;Q6UWH4	.;F198B_HUMAN	R	352;352;360;58	ENSP00000296530:P352R;ENSP00000377396:P360R	ENSP00000296530:P352R	P	-	2	0	FAM198B	159296283	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.001000	0.76297	2.759000	0.94783	0.650000	0.86243	CCT		0.413	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		5	72	0	0	0	0	5	72				
TMEM144	55314	broad.mit.edu	37	4	159136355	159136355	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:159136355A>G	ENST00000296529.6	+	4	642	c.122A>G	c.(121-123)cAg>cGg	p.Q41R	TMEM144_ENST00000514558.1_Missense_Mutation_p.Q41R	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	41						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		ATGTTTCTCCAGTGGGTTCTT	0.388																																						uc003ipx.2		NA																	0					0						c.(121-123)CAG>CGG		transmembrane protein 144							234.0	212.0	219.0					4																	159136355		2203	4300	6503	SO:0001583	missense	55314					integral to membrane		g.chr4:159136355A>G	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.122A>G	4.37:g.159136355A>G	ENSP00000296529:p.Gln41Arg					TMEM144_uc010iqi.2_RNA	p.Q41R	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN		COAD - Colon adenocarcinoma(41;0.0539)	4	642	+	all_hematologic(180;0.24)	Renal(120;0.0854)	41			Helical; (Potential).		D3DP24|Q49A05|Q9NUT3	Missense_Mutation	SNP	ENST00000296529.6	37	c.122A>G	CCDS3799.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214981	0.79352	.	.	ENSG00000164124	ENST00000505049;ENST00000505189;ENST00000508243;ENST00000296529;ENST00000512481;ENST00000504569;ENST00000514558;ENST00000503200;ENST00000502698;ENST00000514971	T;T;T;T;T;T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25	5.91	4.74	0.60224	.	0.181393	0.50627	N	0.000120	T	0.77685	0.4167	M	0.89414	3.03	0.54753	D	0.999989	D	0.89917	1.0	D	0.77557	0.99	T	0.80144	-0.1505	10	0.62326	D	0.03	-10.1531	10.8468	0.46746	0.9255:0.0:0.0745:0.0	.	41	Q7Z5S9	TM144_HUMAN	R	41	ENSP00000425266:Q41R;ENSP00000421289:Q41R;ENSP00000422297:Q41R;ENSP00000296529:Q41R;ENSP00000424659:Q41R;ENSP00000422082:Q41R;ENSP00000426211:Q41R;ENSP00000420990:Q41R;ENSP00000425907:Q41R;ENSP00000422899:Q41R	ENSP00000296529:Q41R	Q	+	2	0	TMEM144	159355805	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.884000	0.87274	1.070000	0.40811	0.523000	0.50628	CAG		0.388	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342		32	222	0	0	0	0	32	222				
MARCH1	55016	broad.mit.edu	37	4	165118778	165118778	+	Intron	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:165118778G>T	ENST00000503008.1	-	2	864				MARCH1_ENST00000508725.1_Intron|MARCH1_ENST00000514618.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GCCTTCATTCGACCGACTGTT	0.498																																						uc011cjk.1		NA																	0					0						c.(85-87)TCG>TAG		acidic nuclear phosphoprotein 32C							143.0	144.0	144.0					4																	165118778		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118778G>T	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85964C>A	4.37:g.165118778G>T						MARCH1_uc003iqs.1_Intron	p.S29*	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	86	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	29					D3DP29|Q9NWR0	Nonsense_Mutation	SNP	ENST00000503008.1	37	c.86C>A	CCDS54814.1																																																																																				0.498	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		68	310	1	0	1.74e-33	2.31e-33	68	310				
GALNTL6	442117	broad.mit.edu	37	4	173852403	173852403	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:173852403G>T	ENST00000506823.1	+	9	1790	c.1133G>T	c.(1132-1134)gGg>gTg	p.G378V	GALNTL6_ENST00000508122.1_Missense_Mutation_p.G361V	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	378					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GTTCCATCTGGGACAAGCCTG	0.463																																						uc003isv.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(1132-1134)GGG>GTG		N-acetylgalactosaminyltransferase-like 6							175.0	159.0	164.0					4																	173852403		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173852403G>T		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1133G>T	4.37:g.173852403G>T	ENSP00000423313:p.Gly378Val						p.G378V	NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN			9	1869	+			378			Lumenal (Potential).		Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.1133G>T	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227318	0.79576	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.68025	-0.3;-0.3	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.84401	0.5464	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.86757	0.1964	10	0.87932	D	0	.	18.3773	0.90439	0.0:0.0:1.0:0.0	.	378	Q49A17	GLTL6_HUMAN	V	378;361	ENSP00000423313:G378V;ENSP00000423827:G361V	ENSP00000423313:G378V	G	+	2	0	GALNTL6	174088978	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.955000	0.93058	2.706000	0.92434	0.655000	0.94253	GGG		0.463	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		53	125	1	0	6.43e-24	8.39e-24	53	125				
WDR17	116966	broad.mit.edu	37	4	177052768	177052768	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:177052768C>T	ENST00000280190.4	+	8	1205	c.1049C>T	c.(1048-1050)cCa>cTa	p.P350L	WDR17_ENST00000508596.1_Missense_Mutation_p.P326L|WDR17_ENST00000393643.2_Missense_Mutation_p.P326L|WDR17_ENST00000507824.2_Missense_Mutation_p.P333L			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	350										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTTCCACCCCCAACTTTAACA	0.383																																						uc003iuj.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(1048-1050)CCA>CTA		WD repeat domain 17 isoform 1							253.0	247.0	249.0					4																	177052768		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177052768C>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1049C>T	4.37:g.177052768C>T	ENSP00000280190:p.Pro350Leu					WDR17_uc003iuk.2_Missense_Mutation_p.P326L|WDR17_uc003ium.3_Missense_Mutation_p.P326L|WDR17_uc003iul.1_Intron	p.P350L	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	8	1205	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	350					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.1049C>T	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.10|18.10	3.547446|3.547446	0.65311|0.65311	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000505894	T;T;T|.	0.58652|.	0.35;0.38;0.32|.	5.44|5.44	5.44|5.44	0.79542|0.79542	WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.47655|.	0.1457|.	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|.	0.42344|.	-0.9457|.	10|.	0.36615|.	T|.	0.2|.	-12.2055|-12.2055	19.6398|19.6398	0.95753|0.95753	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	326;350|.	E7EQX0;Q8IZU2|.	.;WDR17_HUMAN|.	L|X	326;326;350;333|99	ENSP00000422763:P326L;ENSP00000377258:P326L;ENSP00000280190:P350L|.	ENSP00000280190:P350L|.	P|Q	+|+	2|1	0|0	WDR17|WDR17	177289762|177289762	1.000000|1.000000	0.71417|0.71417	0.313000|0.313000	0.25210|0.25210	0.036000|0.036000	0.12997|0.12997	7.212000|7.212000	0.77941|0.77941	2.719000|2.719000	0.93026|0.93026	0.650000|0.650000	0.86243|0.86243	CCA|CAA		0.383	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			82	230	0	0	0	0	82	230				
WDR17	116966	broad.mit.edu	37	4	177098636	177098636	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:177098636C>A	ENST00000280190.4	+	30	3836	c.3680C>A	c.(3679-3681)tCt>tAt	p.S1227Y	WDR17_ENST00000508596.1_Missense_Mutation_p.S1188Y|WDR17_ENST00000393643.2_Missense_Mutation_p.S1203Y|WDR17_ENST00000507824.2_Missense_Mutation_p.S1202Y			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1227										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTAGAAGACTCTCCGTATACA	0.299																																						uc003iuj.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(3679-3681)TCT>TAT		WD repeat domain 17 isoform 1							69.0	79.0	76.0					4																	177098636		2202	4297	6499	SO:0001583	missense	116966							g.chr4:177098636C>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3680C>A	4.37:g.177098636C>A	ENSP00000280190:p.Ser1227Tyr					WDR17_uc003iuk.2_Missense_Mutation_p.S1203Y|WDR17_uc003ium.3_Missense_Mutation_p.S1188Y|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.S438Y	p.S1227Y	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	30	3836	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1227					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.3680C>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	C	2.446	-0.327409	0.05350	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.47869	0.83;0.83;0.83	5.6	3.84	0.44239	.	0.400912	0.27744	N	0.018025	T	0.38374	0.1038	L	0.54323	1.7	0.09310	N	1	B;B;B	0.22746	0.074;0.022;0.074	B;B;B	0.20955	0.019;0.019;0.032	T	0.34527	-0.9825	10	0.54805	T	0.06	-14.5843	4.8348	0.13458	0.0:0.5588:0.157:0.2842	.	1203;1188;1227	E7EP77;E7EQX0;Q8IZU2	.;.;WDR17_HUMAN	Y	1188;1203;1227;1203	ENSP00000422763:S1188Y;ENSP00000377258:S1203Y;ENSP00000280190:S1227Y	ENSP00000280190:S1227Y	S	+	2	0	WDR17	177335630	0.001000	0.12720	0.038000	0.18304	0.851000	0.48451	0.527000	0.22987	1.595000	0.50050	0.644000	0.83932	TCT		0.299	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			32	157	1	0	3.99e-17	5.05e-17	32	157				
LRP2BP	55805	broad.mit.edu	37	4	186294193	186294193	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:186294193A>G	ENST00000328559.7	-	6	1431	c.620T>C	c.(619-621)cTg>cCg	p.L207P	RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Missense_Mutation_p.L207P|LRP2BP_ENST00000362004.3_Missense_Mutation_p.L209P|LRP2BP_ENST00000510776.1_Missense_Mutation_p.L181P	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	207						cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		CTGGGACTCCAGATTCCCATT	0.473																																						uc003ixj.1		NA																	0					0						c.(619-621)CTG>CCG		LRP2 binding protein							94.0	90.0	92.0					4																	186294193		2203	4300	6503	SO:0001583	missense	55805					cytoplasm	protein binding	g.chr4:186294193A>G	AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.620T>C	4.37:g.186294193A>G	ENSP00000332681:p.Leu207Pro					LRP2BP_uc003ixk.1_Missense_Mutation_p.L181P|LRP2BP_uc011ckr.1_Missense_Mutation_p.L207P	p.L207P	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)	6	1432	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	207			Sel1-like 4.		A6NJR7|A7E219|B3KX83|Q9NSN6	Missense_Mutation	SNP	ENST00000328559.7	37	c.620T>C	CCDS3840.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.675601	0.88445	.	.	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000510776;ENST00000505916	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000002	T	0.51160	0.1658	N	0.12182	0.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.53034	-0.8495	10	0.29301	T	0.29	-11.7433	16.6288	0.85011	1.0:0.0:0.0:0.0	.	181;207	G5E9Z9;Q9P2M1	.;LR2BP_HUMAN	P	209;207;181;207	ENSP00000354846:L209P;ENSP00000332681:L207P;ENSP00000424610:L181P;ENSP00000426203:L207P	ENSP00000332681:L207P	L	-	2	0	LRP2BP	186531187	1.000000	0.71417	0.984000	0.44739	0.918000	0.54935	7.808000	0.86044	2.326000	0.78906	0.533000	0.62120	CTG		0.473	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409		23	85	0	0	0	0	23	85				
TRIML1	339976	broad.mit.edu	37	4	189068081	189068081	+	Missense_Mutation	SNP	C	C	A	rs546391133		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:189068081C>A	ENST00000332517.3	+	6	1102	c.962C>A	c.(961-963)cCg>cAg	p.P321Q	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	321	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P321Q(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCCGACAACCCGGAAAGATTT	0.537																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(961-963)CCG>CAG		tripartite motif family-like 1							110.0	104.0	106.0					4																	189068081		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068081C>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.962C>A	4.37:g.189068081C>A	ENSP00000327738:p.Pro321Gln					TRIML1_uc003izn.1_Missense_Mutation_p.P45Q	p.P321Q	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1077	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	321			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.962C>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	c	16.02	3.003889	0.54254	.	.	ENSG00000184108	ENST00000332517	T	0.23754	1.89	4.92	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.000000	0.52532	D	0.000065	T	0.51210	0.1661	M	0.75615	2.305	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	T	0.47522	-0.9111	10	0.45353	T	0.12	-18.9823	16.0461	0.80722	0.0:1.0:0.0:0.0	.	321	Q8N9V2	TRIML_HUMAN	Q	321	ENSP00000327738:P321Q	ENSP00000327738:P321Q	P	+	2	0	TRIML1	189305075	0.998000	0.40836	0.968000	0.41197	0.659000	0.38960	4.692000	0.61746	2.749000	0.94314	0.550000	0.68814	CCG		0.537	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		56	123	1	0	4.26e-23	5.53e-23	56	123				
BRD9	65980	broad.mit.edu	37	5	884145	884145	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:884145C>T	ENST00000467963.1	-	8	1040	c.874G>A	c.(874-876)Gac>Aac	p.D292N	BRD9_ENST00000483173.1_Missense_Mutation_p.D239N|BRD9_ENST00000388890.4_Missense_Mutation_p.D176N|BRD9_ENST00000435709.2_Missense_Mutation_p.D176N|BRD9_ENST00000323510.4_Missense_Mutation_p.D196N|BRD9_ENST00000494422.1_Intron	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	292					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GCGGTACTGTCCGTCAAGCTG	0.632																																						uc003jbq.2		NA																	0					0						c.(874-876)GAC>AAC		bromodomain containing 9 isoform 1							120.0	93.0	102.0					5																	884145		2203	4300	6503	SO:0001583	missense	65980						nucleic acid binding	g.chr5:884145C>T	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.874G>A	5.37:g.884145C>T	ENSP00000419765:p.Asp292Asn					BRD9_uc003jbl.2_Missense_Mutation_p.D176N|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Missense_Mutation_p.D239N|BRD9_uc003jbo.2_Missense_Mutation_p.D196N|BRD9_uc003jbp.2_5'Flank|BRD9_uc011cmc.1_RNA	p.D292N	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		8	1041	-			292					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	ENST00000467963.1	37	c.874G>A	CCDS34127.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482396	0.84747	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000483173;ENST00000467963;ENST00000435709;ENST00000489093	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.03	4.16	0.48862	.	0.045020	0.85682	N	0.000000	T	0.64305	0.2586	M	0.73598	2.24	0.80722	D	1	D;D;D;P	0.59767	0.986;0.96;0.982;0.95	P;P;P;P	0.61275	0.886;0.696;0.72;0.653	T	0.67821	-0.5571	10	0.59425	D	0.04	.	13.0421	0.58906	0.0:0.9208:0.0:0.0792	.	239;292;196;176	B4DMQ2;Q9H8M2;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.	N	196;176;239;292;176;196	ENSP00000323557:D196N;ENSP00000373542:D176N;ENSP00000419845:D239N;ENSP00000419765:D292N;ENSP00000402984:D176N;ENSP00000420722:D196N	ENSP00000323557:D196N	D	-	1	0	BRD9	937145	1.000000	0.71417	0.833000	0.33012	0.822000	0.46500	7.030000	0.76484	1.105000	0.41606	0.609000	0.83330	GAC		0.632	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		23	75	0	0	0	0	23	75				
ADAMTS16	170690	broad.mit.edu	37	5	5235236	5235236	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:5235236G>T	ENST00000274181.7	+	13	2098	c.1960G>T	c.(1960-1962)Gag>Tag	p.E654*	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	654	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCAGTGTGCCGAGCACAACAG	0.527																																						uc003jdl.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(1960-1962)GAG>TAG		ADAM metallopeptidase with thrombospondin type 1							76.0	80.0	78.0					5																	5235236		1954	4148	6102	SO:0001587	stop_gained	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5235236G>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1960G>T	5.37:g.5235236G>T	ENSP00000274181:p.Glu654*					ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.E654*|ADAMTS16_uc010itk.1_RNA	p.E654*	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			13	2098	+			654			Cys-rich.		C6G490|Q8IVE2	Nonsense_Mutation	SNP	ENST00000274181.7	37	c.1960G>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	38	6.690805	0.97764	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	.	.	.	4.57	3.68	0.42216	.	0.059707	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	13.9084	0.63850	0.0:0.1538:0.8462:0.0	.	.	.	.	X	654	.	ENSP00000274181:E654X	E	+	1	0	ADAMTS16	5288236	1.000000	0.71417	0.014000	0.15608	0.010000	0.07245	7.459000	0.80802	1.031000	0.39867	0.655000	0.94253	GAG		0.527	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		10	119	1	0	1.59e-06	1.8e-06	10	119				
OTULIN	90268	broad.mit.edu	37	5	14678802	14678802	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:14678802G>T	ENST00000284274.4	+	3	320	c.242G>T	c.(241-243)aGc>aTc	p.S81I		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		81					canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					CCGAGATTAAGCGTAGCTCCT	0.358																																						uc003jfk.2		NA																	0				ovary(2)	2						c.(241-243)AGC>ATC		hypothetical protein LOC90268							68.0	60.0	62.0					5																	14678802		1829	4073	5902	SO:0001583	missense	90268							g.chr5:14678802G>T																												ENST00000284274.4:c.242G>T	5.37:g.14678802G>T	ENSP00000284274:p.Ser81Ile						p.S81I	NM_138348	NP_612357	Q96BN8	F105B_HUMAN			3	394	+	Lung NSC(4;0.00696)		81					D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	ENST00000284274.4	37	c.242G>T	CCDS43302.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419200	0.42918	.	.	ENSG00000154124	ENST00000284274	T	0.21361	2.01	5.63	5.63	0.86233	.	0.052712	0.85682	D	0.000000	T	0.33760	0.0874	N	0.24115	0.695	0.58432	D	0.999993	D	0.76494	0.999	D	0.71656	0.974	T	0.09997	-1.0649	10	0.87932	D	0	-15.8488	17.1833	0.86860	0.0:0.0:1.0:0.0	.	81	Q96BN8	F105B_HUMAN	I	81	ENSP00000284274:S81I	ENSP00000284274:S81I	S	+	2	0	FAM105B	14731802	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.454000	0.80714	2.644000	0.89710	0.591000	0.81541	AGC		0.358	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1			9	36	1	0	2.18e-05	2.42e-05	9	36				
PRDM9	56979	broad.mit.edu	37	5	23527819	23527819	+	Silent	SNP	C	C	T	rs376505927		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:23527819C>T	ENST00000296682.3	+	11	2804	c.2622C>T	c.(2620-2622)agC>agT	p.S874S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	874					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATAGGTCAAGCCTCTGCTATC	0.522										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2620-2622)AGC>AGT		PR domain containing 9							67.0	76.0	73.0					5																	23527819		2188	4294	6482	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527819C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2622C>T	5.37:g.23527819C>T		HNSCC(3;0.000094)					p.S874S	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2804	+			874			C2H2-type 14.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2622C>T	CCDS43307.1																																																																																				0.522	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		33	110	0	0	0	0	33	110				
CDH9	1007	broad.mit.edu	37	5	26890582	26890582	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:26890582C>A	ENST00000231021.4	-	8	1517	c.1345G>T	c.(1345-1347)Gaa>Taa	p.E449*		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	449	Cadherin 4. {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)			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						GGAGATGATTCCCGGTCAAGG	0.408																																					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.(1345-1347)GAA>TAA		cadherin 9, type 2 preproprotein							110.0	109.0	110.0					5																	26890582		2203	4300	6503	SO:0001587	stop_gained	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26890582C>A	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.1345G>T	5.37:g.26890582C>A	ENSP00000231021:p.Glu449*					CDH9_uc011cnv.1_Nonsense_Mutation_p.E42*	p.E449*	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			8	1514	-			449			Extracellular (Potential).|Cadherin 4.		Q3B7I5	Nonsense_Mutation	SNP	ENST00000231021.4	37	c.1345G>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	41	8.724419	0.98929	.	.	ENSG00000113100	ENST00000231021	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0519	0.86521	0.0:1.0:0.0:0.0	.	.	.	.	X	449	.	.	E	-	1	0	CDH9	26926339	1.000000	0.71417	0.992000	0.48379	0.912000	0.54170	7.785000	0.85724	2.385000	0.81259	0.453000	0.30009	GAA		0.408	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		58	157	1	0	4.67e-30	6.15e-30	58	157				
RAI14	26064	broad.mit.edu	37	5	34823760	34823760	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:34823760C>A	ENST00000265109.3	+	15	2100	c.1813C>A	c.(1813-1815)Caa>Aaa	p.Q605K	RAI14_ENST00000512629.1_Missense_Mutation_p.Q576K|RAI14_ENST00000506376.1_Missense_Mutation_p.Q597K|RAI14_ENST00000397449.1_Missense_Mutation_p.Q598K|RAI14_ENST00000515799.1_Missense_Mutation_p.Q608K|RAI14_ENST00000503673.1_Missense_Mutation_p.Q605K|RAI14_ENST00000428746.2_Missense_Mutation_p.Q605K	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	605						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CCAAGAAGCCCAAGAAGAAAT	0.363																																						uc003jir.2		NA																	0				ovary(1)	1						c.(1813-1815)CAA>AAA		retinoic acid induced 14 isoform a							53.0	57.0	55.0					5																	34823760		2203	4299	6502	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34823760C>A	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1813C>A	5.37:g.34823760C>A	ENSP00000265109:p.Gln605Lys					RAI14_uc010iur.2_Missense_Mutation_p.Q576K|RAI14_uc011coj.1_Missense_Mutation_p.Q605K|RAI14_uc003jis.2_Missense_Mutation_p.Q608K|RAI14_uc003jit.2_Missense_Mutation_p.Q605K|RAI14_uc011cok.1_Missense_Mutation_p.Q597K	p.Q605K	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			15	2009	+	all_lung(31;0.000191)		605			Potential.		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.1813C>A	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866214	0.51588	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.38240	1.17;1.15;1.17;1.17;1.2;1.25;1.24	5.44	4.55	0.56014	.	.	.	.	.	T	0.47248	0.1435	L	0.32530	0.975	0.39618	D	0.96998	D;D;D;D	0.67145	0.996;0.993;0.99;0.993	D;D;P;D	0.72982	0.979;0.952;0.871;0.952	T	0.47535	-0.9110	9	0.48119	T	0.1	-16.2944	13.0834	0.59127	0.2919:0.7081:0.0:0.0	.	597;576;608;605	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	K	605;576;605;605;608;597;598	ENSP00000265109:Q605K;ENSP00000422377:Q576K;ENSP00000388725:Q605K;ENSP00000422942:Q605K;ENSP00000427123:Q608K;ENSP00000423854:Q597K;ENSP00000380591:Q598K	ENSP00000265109:Q605K	Q	+	1	0	RAI14	34859517	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.842000	0.55858	1.243000	0.43853	0.555000	0.69702	CAA		0.363	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		17	76	1	0	1.03e-11	1.24e-11	17	76				
ANXA2R	389289	broad.mit.edu	37	5	43040127	43040127	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:43040127A>T	ENST00000314890.3	-	2	1441	c.22T>A	c.(22-24)Tgt>Agt	p.C8S	AC025171.1_ENST00000451894.2_RNA|AC025171.1_ENST00000505541.1_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	8																	CGCTTCACACAGCCAAGAAAA	0.547											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jnf.2		NA																	0					0						c.(22-24)TGT>AGT		annexin II receptor							34.0	40.0	38.0					5																	43040127		2192	4294	6486	SO:0001583	missense	389289						receptor activity	g.chr5:43040127A>T	BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"""chromosome 5 open reading frame 39"""	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232	ENST00000314890.3:c.22T>A	5.37:g.43040127A>T	ENSP00000315915:p.Cys8Ser		OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	C5orf39_uc010ivj.1_RNA|LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank	p.C8S	NM_001014279	NP_001014301	Q3ZCQ2	AX2R_HUMAN			1	321	-			8					Q8NHX5	Missense_Mutation	SNP	ENST00000314890.3	37	c.22T>A	CCDS34153.1	.	.	.	.	.	.	.	.	.	.	A	5.070	0.198591	0.09652	.	.	ENSG00000177721	ENST00000314890	T	0.31510	1.49	3.47	-6.93	0.01638	.	.	.	.	.	T	0.15046	0.0363	N	0.19112	0.55	0.09310	N	1	B	0.32160	0.358	B	0.25405	0.06	T	0.13019	-1.0525	9	0.35671	T	0.21	.	10.2836	0.43554	0.135:0.3069:0.5581:0.0	.	8	Q3ZCQ2	AX2R_HUMAN	S	8	ENSP00000315915:C8S	ENSP00000315915:C8S	C	-	1	0	C5orf39	43075884	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.506000	0.00223	-3.748000	0.00112	-0.904000	0.02843	TGT		0.547	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368030.1	NM_001014279		33	117	0	0	0	0	33	117				
CCNB1	891	broad.mit.edu	37	5	68473452	68473452	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:68473452G>A	ENST00000256442.5	+	9	1549	c.1296G>A	c.(1294-1296)aaG>aaA	p.K432K	snoU13_ENST00000459230.1_RNA	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	432					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)			large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTGTGGCAAAGGTGTAACTTG	0.383																																						uc003jvm.2		NA																	0					0						c.(1294-1296)AAG>AAA		cyclin B1							108.0	110.0	110.0					5																	68473452		2203	4300	6503	SO:0001819	synonymous_variant	891				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole		g.chr5:68473452G>A	U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.1296G>A	5.37:g.68473452G>A						CCNB1_uc010ixb.2_Silent_p.K395K	p.K432K	NM_031966	NP_114172	P14635	CCNB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	9	1473	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	432					A8K066|Q5TZP9	Silent	SNP	ENST00000256442.5	37	c.1296G>A	CCDS3997.1																																																																																				0.383	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215084.1	NM_031966		22	140	0	0	0	0	22	140				
PDE8B	8622	broad.mit.edu	37	5	76607880	76607880	+	Splice_Site	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:76607880T>A	ENST00000264917.5	+	2	444		c.e2+2		PDE8B_ENST00000333194.4_Splice_Site|PDE8B_ENST00000342343.4_Intron|PDE8B_ENST00000346042.3_Splice_Site|PDE8B_ENST00000340978.3_Splice_Site	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B						cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	CCTATTCAGGTACGCCTCCTT	0.463																																						uc003kfa.2		NA																	0					0						c.e2+2		phosphodiesterase 8B isoform 1							179.0	169.0	172.0					5																	76607880		2203	4300	6503	SO:0001630	splice_region_variant	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76607880T>A	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.399+2T>A	5.37:g.76607880T>A						PDE8B_uc003kfb.2_Intron|PDE8B_uc003kfc.2_Splice_Site_p.Q133_splice|PDE8B_uc003kfd.2_Splice_Site_p.Q133_splice|PDE8B_uc003kfe.2_Splice_Site_p.Q133_splice	p.Q133_splice	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	2	444	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)						Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Splice_Site	SNP	ENST00000264917.5	37	c.399_splice	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740540	0.69304	.	.	ENSG00000113231	ENST00000505926;ENST00000340978;ENST00000346042;ENST00000264917;ENST00000333194;ENST00000502945	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6787	0.51444	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE8B	76643636	1.000000	0.71417	0.997000	0.53966	0.819000	0.46315	4.234000	0.58658	2.330000	0.79161	0.528000	0.53228	.		0.463	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719	Intron	28	192	0	0	0	0	28	192				
CMYA5	202333	broad.mit.edu	37	5	79029872	79029872	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:79029872A>T	ENST00000446378.2	+	2	5315	c.5284A>T	c.(5284-5286)Aaa>Taa	p.K1762*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1762					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCCGACTTTAAAAAGGGAGG	0.413																																						uc003kgc.2		NA																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(5284-5286)AAA>TAA		cardiomyopathy associated 5							64.0	61.0	62.0					5																	79029872		1826	4076	5902	SO:0001587	stop_gained	202333					perinuclear region of cytoplasm		g.chr5:79029872A>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5284A>T	5.37:g.79029872A>T	ENSP00000394770:p.Lys1762*						p.K1762*	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	5356	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1762					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	c.5284A>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	39	7.877744	0.98539	.	.	ENSG00000164309	ENST00000446378	.	.	.	3.88	0.15	0.14883	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6795	0.17767	0.6195:0.0:0.3805:0.0	.	.	.	.	X	1762	.	ENSP00000394770:K1762X	K	+	1	0	CMYA5	79065628	0.001000	0.12720	0.005000	0.12908	0.028000	0.11728	0.126000	0.15769	0.009000	0.14813	0.460000	0.39030	AAA		0.413	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		16	95	0	0	0	0	16	95				
RASGRF2	5924	broad.mit.edu	37	5	80363998	80363998	+	Splice_Site	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:80363998G>A	ENST00000265080.4	+	3	610	c.543G>A	c.(541-543)gaG>gaA	p.E181E		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	181					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TTAAATCAGAGGTATTTCCCA	0.393																																						uc003kha.1		NA																	0				breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(541-543)GAG>GAA		Ras protein-specific guanine							115.0	108.0	111.0					5																	80363998		2203	4300	6503	SO:0001630	splice_region_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80363998G>A	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.543+1G>A	5.37:g.80363998G>A						RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_5'Flank	p.E181E	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	3	543	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	181			Potential.		B9EG89|Q9UK56	Silent	SNP	ENST00000265080.4	37	c.543G>A	CCDS4052.1																																																																																				0.393	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909	Silent	11	103	0	0	0	0	11	103				
PCSK1	5122	broad.mit.edu	37	5	95764933	95764933	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:95764933A>G	ENST00000311106.3	-	2	506	c.269T>C	c.(268-270)tTa>tCa	p.L90S	PCSK1_ENST00000508626.1_Missense_Mutation_p.L43S|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	90					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ATCATCAGATAATCTCTTAGT	0.333																																						uc003kls.1		NA																	0				ovary(2)	2						c.(268-270)TTA>TCA		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						125.0	121.0	123.0					5																	95764933		2203	4298	6501	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95764933A>G		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.269T>C	5.37:g.95764933A>G	ENSP00000308024:p.Leu90Ser						p.L90S	NM_000439	NP_000430	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	2	475	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	90					B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.269T>C	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.329405	0.81690	.	.	ENSG00000175426	ENST00000311106;ENST00000508626;ENST00000509190	T;T;T	0.58797	0.31;0.31;0.31	5.84	5.84	0.93424	Proteinase inhibitor, propeptide (1);	0.136590	0.48286	D	0.000184	D	0.82291	0.5005	M	0.93638	3.44	0.50313	D	0.999863	D	0.89917	1.0	D	0.83275	0.996	D	0.87053	0.2148	10	0.87932	D	0	-7.692	15.8874	0.79261	1.0:0.0:0.0:0.0	.	90	P29120	NEC1_HUMAN	S	90;43;90	ENSP00000308024:L90S;ENSP00000421600:L43S;ENSP00000427294:L90S	ENSP00000308024:L90S	L	-	2	0	PCSK1	95790689	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.330000	0.90019	2.230000	0.72887	0.528000	0.53228	TTA		0.333	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		20	144	0	0	0	0	20	144				
SLCO6A1	133482	broad.mit.edu	37	5	101794169	101794169	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:101794169G>A	ENST00000506729.1	-	6	1219	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R288C|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R350C|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379810.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	350						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGCTGTTTACGTTTCCTAGCT	0.294																																						uc003knn.2		NA																	0				ovary(3)|skin(3)|central_nervous_system(1)	7						c.(1048-1050)CGT>TGT		solute carrier organic anion transporter family,							133.0	131.0	132.0					5																	101794169		2201	4300	6501	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101794169G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1048C>T	5.37:g.101794169G>A	ENSP00000421339:p.Arg350Cys					SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.R350C|SLCO6A1_uc003knq.2_Missense_Mutation_p.R288C	p.R350C	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	6	1220	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	350			Cytoplasmic (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1048C>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	G	7.806	0.714760	0.15306	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019	T;T;T	0.81247	-1.47;-1.47;-1.47	4.3	-0.997	0.10215	Major facilitator superfamily domain, general substrate transporter (1);	2.743770	0.00789	N	0.001322	T	0.75191	0.3816	M	0.74258	2.255	0.09310	N	1	P;P	0.44044	0.825;0.735	B;B	0.35607	0.206;0.189	T	0.60969	-0.7157	10	0.54805	T	0.06	.	0.8993	0.01270	0.1862:0.1516:0.3518:0.3104	.	288;350	Q86UG4-2;Q86UG4	.;SO6A1_HUMAN	C	350;350;288	ENSP00000421339:R350C;ENSP00000369135:R350C;ENSP00000373671:R288C	ENSP00000369135:R350C	R	-	1	0	SLCO6A1	101822068	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.281000	0.08456	-0.205000	0.10219	-0.123000	0.14984	CGT		0.294	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		24	133	0	0	0	0	24	133				
RAPGEF6	51735	broad.mit.edu	37	5	130815438	130815438	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:130815438C>A	ENST00000509018.1	-	16	2054	c.1849G>T	c.(1849-1851)Gag>Tag	p.E617*	RAPGEF6_ENST00000512052.1_Nonsense_Mutation_p.E332*|RAPGEF6_ENST00000507093.1_Nonsense_Mutation_p.E617*|RAPGEF6_ENST00000308008.6_Nonsense_Mutation_p.E617*|RAPGEF6_ENST00000296859.6_Nonsense_Mutation_p.E617*|RAPGEF6_ENST00000510071.1_Nonsense_Mutation_p.E617*|CTC-432M15.3_ENST00000514667.1_Nonsense_Mutation_p.E667*|RAPGEF6_ENST00000307984.5_Nonsense_Mutation_p.E617*	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	617					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAAAGTAACTCTTTGAACACT	0.328																																					Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1849-1851)GAG>TAG		PDZ domain-containing guanine nucleotide							90.0	86.0	87.0					5																	130815438		2203	4300	6503	SO:0001587	stop_gained	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130815438C>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1849G>T	5.37:g.130815438C>A	ENSP00000421684:p.Glu617*					RAPGEF6_uc003kvp.1_Nonsense_Mutation_p.E667*|RAPGEF6_uc003kvo.1_Nonsense_Mutation_p.E617*|RAPGEF6_uc010jdi.1_Nonsense_Mutation_p.E617*|RAPGEF6_uc010jdj.1_Nonsense_Mutation_p.E617*|RAPGEF6_uc003kvq.2_Nonsense_Mutation_p.E334*|RAPGEF6_uc003kvr.2_Nonsense_Mutation_p.E617*|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Nonsense_Mutation_p.E617*	p.E617*	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	16	2055	-			617					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Nonsense_Mutation	SNP	ENST00000509018.1	37	c.1849G>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	39	7.505791	0.98325	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	.	.	.	X	617;617;617;617;617;332;617;617;667	.	ENSP00000426948:E667X	E	-	1	0	RAPGEF6;FNIP1	130843337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.294000	0.78760	2.746000	0.94184	0.591000	0.81541	GAG		0.328	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		20	112	1	0	1.02e-10	1.22e-10	20	112				
KIF3A	11127	broad.mit.edu	37	5	132069961	132069961	+	Missense_Mutation	SNP	T	T	A	rs146249719	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:132069961T>A	ENST00000378746.4	-	2	434	c.216A>T	c.(214-216)aaA>aaT	p.K72N	KIF3A_ENST00000403231.1_Missense_Mutation_p.K72N|KIF3A_ENST00000378735.1_Missense_Mutation_p.K72N	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	72	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATCAAGTTGTTTACTCTCTG	0.338																																						uc003kxo.2		NA																	0				pancreas(1)	1						c.(214-216)AAA>AAT		kinesin family member 3A							146.0	148.0	147.0					5																	132069961		2203	4300	6503	SO:0001583	missense	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132069961T>A	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.216A>T	5.37:g.132069961T>A	ENSP00000368020:p.Lys72Asn					KIF3A_uc003kxn.2_Missense_Mutation_p.K31N|KIF3A_uc011cxf.1_Missense_Mutation_p.K72N|KIF3A_uc003kxp.2_Missense_Mutation_p.K72N	p.K72N	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	370	-		all_cancers(142;0.0751)|Breast(839;0.198)	72			Kinesin-motor.		A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	c.216A>T	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986047	0.35036	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000403231;ENST00000450914;ENST00000428744	T;T;T;T	0.71934	-0.61;-0.61;-0.61;2.35	5.72	4.54	0.55810	Kinesin, motor domain (4);	0.042876	0.85682	D	0.000000	T	0.47930	0.1472	N	0.05158	-0.105	0.58432	D	0.99999	P;P;B;B	0.41498	0.606;0.752;0.001;0.007	P;B;B;B	0.44359	0.447;0.233;0.007;0.006	T	0.43621	-0.9380	10	0.31617	T	0.26	.	2.6658	0.05049	0.1318:0.1109:0.1369:0.6204	.	72;72;72;72	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	N	72;72;72;72;42;71	ENSP00000368020:K72N;ENSP00000368009:K72N;ENSP00000385808:K72N;ENSP00000391863:K71N	ENSP00000368009:K72N	K	-	3	2	KIF3A	132097860	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.735000	0.47377	0.979000	0.38497	0.260000	0.18958	AAA		0.338	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		75	142	0	0	0	0	75	142				
BRD8	10902	broad.mit.edu	37	5	137496708	137496708	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:137496708G>A	ENST00000254900.5	-	18	2670	c.2299C>T	c.(2299-2301)Cga>Tga	p.R767*	BRD8_ENST00000230901.5_Nonsense_Mutation_p.R840*|BRD8_ENST00000455658.2_Nonsense_Mutation_p.R726*|BRD8_ENST00000411594.2_Nonsense_Mutation_p.R770*|BRD8_ENST00000515014.1_5'UTR|BRD8_ENST00000402931.1_Nonsense_Mutation_p.R767*	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	767	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTGTGCTTCGGATCAGTCCA	0.408																																						uc003lcf.1		NA																	0				ovary(1)	1						c.(2299-2301)CGA>TGA		bromodomain containing 8 isoform 2							118.0	104.0	109.0					5																	137496708		2203	4300	6503	SO:0001587	stop_gained	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137496708G>A	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2299C>T	5.37:g.137496708G>A	ENSP00000254900:p.Arg767*					BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Nonsense_Mutation_p.R546*|BRD8_uc003lcg.2_Nonsense_Mutation_p.R840*|BRD8_uc003lci.2_Nonsense_Mutation_p.R770*|BRD8_uc003lch.2_Nonsense_Mutation_p.R661*|BRD8_uc011cym.1_Nonsense_Mutation_p.R751*|BRD8_uc010jer.1_Nonsense_Mutation_p.R736*|BRD8_uc011cyn.1_Nonsense_Mutation_p.R726*	p.R767*	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		18	2354	-			767			Bromo 1.		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Nonsense_Mutation	SNP	ENST00000254900.5	37	c.2299C>T	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	G	41	9.123067	0.99073	.	.	ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658	.	.	.	5.13	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6216	12.9116	0.58182	0.0:0.0:0.7491:0.2509	.	.	.	.	X	767;796;765;840;767;770;661;726	.	ENSP00000230901:R840X	R	-	1	2	BRD8	137524607	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.326000	0.65875	2.824000	0.97209	0.655000	0.94253	CGA		0.408	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		15	106	0	0	0	0	15	106				
PCDHA3	56145	broad.mit.edu	37	5	140182431	140182431	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:140182431C>T	ENST00000522353.2	+	1	1649	c.1649C>T	c.(1648-1650)aCg>aTg	p.T550M	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.T550M|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	550	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAACGTGACGCTGCAGGTG	0.687																																						uc003lhf.2		NA																	0				ovary(6)|skin(2)	8						c.(1648-1650)ACG>ATG		protocadherin alpha 3 isoform 1 precursor							91.0	91.0	91.0					5																	140182431		2203	4298	6501	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140182431C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1649C>T	5.37:g.140182431C>T	ENSP00000429808:p.Thr550Met					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.T550M	p.T550M	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1649	+			550			Cadherin 5.|Extracellular (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1649C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	15.33	2.801552	0.50315	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.55588	0.51;0.51	4.5	3.56	0.40772	Cadherin (5);Cadherin-like (1);	0.181693	0.25397	U	0.030978	T	0.69387	0.3105	M	0.76328	2.33	0.32555	N	0.531915	D;D	0.63880	0.993;0.991	D;P	0.63597	0.916;0.631	T	0.78745	-0.2084	10	0.87932	D	0	.	15.0389	0.71770	0.0:0.8576:0.1424:0.0	.	550;550	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	M	550	ENSP00000429808:T550M;ENSP00000434086:T550M	ENSP00000429808:T550M	T	+	2	0	PCDHA3	140162615	0.175000	0.23083	1.000000	0.80357	0.786000	0.44442	1.896000	0.39789	2.237000	0.73441	0.306000	0.20318	ACG		0.687	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		26	108	0	0	0	0	26	108				
PCDHA11	56138	broad.mit.edu	37	5	140250500	140250500	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:140250500G>T	ENST00000398640.2	+	1	1812	c.1812G>T	c.(1810-1812)gcG>gcT	p.A604A	PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	604	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACAACGCGTGGCTTTCAT	0.672																																						uc003lia.2		NA																	0				breast(1)	1						c.(1810-1812)GCG>GCT		protocadherin alpha 11 isoform 1 precursor							66.0	77.0	73.0					5																	140250500		2203	4299	6502	SO:0001819	synonymous_variant	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140250500G>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1812G>T	5.37:g.140250500G>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.A604A	p.A604A	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2670	+			604			Extracellular (Potential).|Cadherin 6.		B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1812G>T	CCDS47284.1																																																																																				0.672	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		13	67	1	0	2.63e-14	3.24e-14	13	67				
PCDHB5	26167	broad.mit.edu	37	5	140516465	140516465	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:140516465C>T	ENST00000231134.5	+	1	1666	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	483	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACCAACGCCCAGGTCACCT	0.637																																						uc003liq.2		NA																	0				skin(3)|ovary(2)	5						c.(1447-1449)GCC>GCT		protocadherin beta 5 precursor							97.0	97.0	97.0					5																	140516465		2203	4300	6503	SO:0001819	synonymous_variant	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516465C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1449C>T	5.37:g.140516465C>T							p.A483A	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1666	+			483			Extracellular (Potential).|Cadherin 5.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1449C>T	CCDS4247.1																																																																																				0.637	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		49	119	0	0	0	0	49	119				
PCDHGA2	56113	broad.mit.edu	37	5	140718644	140718644	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:140718644C>T	ENST00000394576.2	+	1	106	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	36	Cadherin 1. {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)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATTCTGTGCGGGAAGAGAT	0.602											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ljk.1		NA																	0				skin(2)|ovary(1)	3						c.(106-108)CGG>TGG		protocadherin gamma subfamily A, 2 isoform 1							69.0	69.0	69.0					5																	140718644		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140718644C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.106C>T	5.37:g.140718644C>T	ENSP00000378077:p.Arg36Trp		OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.R36W	p.R36W	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	291	+			36			Cadherin 1.|Extracellular (Potential).		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.106C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	14.35	2.510259	0.44660	.	.	ENSG00000081853	ENST00000394576	T	0.15718	2.4	5.07	3.21	0.36854	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.178214	0.26855	U	0.022145	T	0.23410	0.0566	L	0.34521	1.04	0.26422	N	0.976088	P;D	0.54397	0.917;0.966	P;P	0.58970	0.764;0.849	T	0.02991	-1.1085	10	0.87932	D	0	.	8.726	0.34469	0.0:0.635:0.2871:0.0778	.	36;36	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	W	36	ENSP00000378077:R36W	ENSP00000378077:R36W	R	+	1	2	PCDHGA2	140698828	0.006000	0.16342	0.756000	0.31282	0.043000	0.13939	1.698000	0.37794	0.596000	0.29794	0.585000	0.79938	CGG		0.602	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		10	95	0	0	0	0	10	95				
PCDHGA12	26025	broad.mit.edu	37	5	140811076	140811076	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:140811076C>A	ENST00000252085.3	+	1	892	c.750C>A	c.(748-750)agC>agA	p.S250R	PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	250	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCGCGAGCGTTCCGGAGA	0.627																																						uc003lkt.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(748-750)AGC>AGA		protocadherin gamma subfamily A, 12 isoform 1							54.0	56.0	55.0					5																	140811076		2203	4300	6503	SO:0001583	missense	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140811076C>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.750C>A	5.37:g.140811076C>A	ENSP00000252085:p.Ser250Arg					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.S250R	p.S250R	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	919	+			250			Cadherin 3.|Extracellular (Potential).		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.750C>A	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	6.097	0.386198	0.11524	.	.	ENSG00000253159	ENST00000252085	T	0.01854	4.6	5.09	0.395	0.16304	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02342	0.0072	L	0.35644	1.08	0.09310	N	1	B;B	0.20780	0.048;0.034	B;B	0.28305	0.036;0.088	T	0.46176	-0.9210	9	0.34782	T	0.22	.	5.7455	0.18118	0.1362:0.5219:0.0:0.3419	.	250;250	O60330-2;O60330	.;PCDGC_HUMAN	R	250	ENSP00000252085:S250R	ENSP00000252085:S250R	S	+	3	2	PCDHGA12	140791260	0.000000	0.05858	0.050000	0.19076	0.537000	0.34900	-2.139000	0.01302	0.129000	0.18514	0.655000	0.94253	AGC		0.627	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		31	68	1	0	2.71e-09	3.19e-09	31	68				
FGF1	2246	broad.mit.edu	37	5	141974899	141974899	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:141974899G>A	ENST00000359370.6	-	4	503	c.424C>T	c.(424-426)Cag>Tag	p.Q142*	FGF1_ENST00000407758.1_3'UTR|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000494579.1_5'UTR|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000337706.2_Nonsense_Mutation_p.Q142*|FGF1_ENST00000378046.1_Nonsense_Mutation_p.Q142*|FGF1_ENST00000419524.2_Nonsense_Mutation_p.Q142*|FGF1_ENST00000360966.5_3'UTR	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	142	Heparin-binding.				anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|branch elongation involved in ureteric bud branching (GO:0060681)|cell differentiation (GO:0030154)|cellular response to heat (GO:0034605)|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)|insulin receptor signaling pathway (GO:0008286)|mesonephric epithelium development (GO:0072163)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Amlexanox(DB01025)|Pazopanib(DB06589)|Pentosan Polysulfate(DB00686)	ATTGCTTTCTGGCCATAGTGA	0.483																																						uc003lmm.2		NA																	0					0						c.(424-426)CAG>TAG		fibroblast growth factor 1 (acidic) isoform 1	Pentosan Polysulfate(DB00686)						105.0	98.0	101.0					5																	141974899		2203	4300	6503	SO:0001587	stop_gained	2246				angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding	g.chr5:141974899G>A	X59065	CCDS4275.1, CCDS4276.1	5q31.3-q33.2	2014-01-30			ENSG00000113578	ENSG00000113578		"""Endogenous ligands"""	3665	protein-coding gene	gene with protein product	"""heparin-binding growth factor 1"", ""endothelial cell growth factor, alpha"", ""endothelial cell growth factor, beta"""	131220		FGFA		1697263, 3523756	Standard	NM_033137		Approved	AFGF, ECGF, ECGFA, ECGFB, HBGF1, ECGF-beta, FGF-alpha, GLIO703	uc031slo.1	P05230	OTTHUMG00000059703	ENST00000359370.6:c.424C>T	5.37:g.141974899G>A	ENSP00000352329:p.Gln142*					FGF1_uc011dbi.1_3'UTR|FGF1_uc003lmn.3_Nonsense_Mutation_p.Q142*|FGF1_uc003lmp.3_3'UTR|FGF1_uc003lmq.2_Nonsense_Mutation_p.Q142*|FGF1_uc010jgj.2_Nonsense_Mutation_p.Q141*|FGF1_uc003lmr.2_Nonsense_Mutation_p.Q142*|FGF1_uc003lms.3_Nonsense_Mutation_p.Q142*	p.Q142*	NM_001144892	NP_001138364	P05230	FGF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	4	504	-		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	142			Heparin-binding.		B2R5T0|D3DQF2|P07502|Q16588	Nonsense_Mutation	SNP	ENST00000359370.6	37	c.424C>T	CCDS4275.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199179	0.94997	.	.	ENSG00000113578	ENST00000359370;ENST00000378046;ENST00000337706;ENST00000441680;ENST00000419524	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.2084	0.98285	0.0:0.0:1.0:0.0	.	.	.	.	X	142	.	ENSP00000338548:Q142X	Q	-	1	0	FGF1	141955083	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.284000	0.95882	2.774000	0.95407	0.650000	0.86243	CAG		0.483	FGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132735.2	NM_000800		9	64	0	0	0	0	9	64				
FAT2	2196	broad.mit.edu	37	5	150925209	150925209	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:150925209C>A	ENST00000261800.5	-	9	5491	c.5479G>T	c.(5479-5481)Gag>Tag	p.E1827*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1827	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAATCCATCTCTGATACAATG	0.433																																						uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(5479-5481)GAG>TAG		FAT tumor suppressor 2 precursor							59.0	62.0	61.0					5																	150925209		2203	4300	6503	SO:0001587	stop_gained	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925209C>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5479G>T	5.37:g.150925209C>A	ENSP00000261800:p.Glu1827*					GM2A_uc011dcs.1_Intron	p.E1827*	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	5492	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1827			Extracellular (Potential).|Cadherin 16.		O75091|Q9NSR7	Nonsense_Mutation	SNP	ENST00000261800.5	37	c.5479G>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	43	10.295677	0.99378	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.25	4.39	0.52855	.	0.434355	0.21391	N	0.075307	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	10.1158	0.42589	0.0:0.8467:0.0:0.1533	.	.	.	.	X	1827	.	ENSP00000261800:E1827X	E	-	1	0	FAT2	150905402	0.007000	0.16637	0.383000	0.26132	0.758000	0.43043	0.978000	0.29488	1.216000	0.43427	0.467000	0.42956	GAG		0.433	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		39	66	1	0	1.91e-15	2.39e-15	39	66				
FAT2	2196	broad.mit.edu	37	5	150934053	150934053	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:150934053T>C	ENST00000261800.5	-	4	3827	c.3815A>G	c.(3814-3816)gAt>gGt	p.D1272G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1272	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGACCCTCATCCAGGTCTGA	0.557																																						uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(3814-3816)GAT>GGT		FAT tumor suppressor 2 precursor							142.0	122.0	129.0					5																	150934053		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150934053T>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3815A>G	5.37:g.150934053T>C	ENSP00000261800:p.Asp1272Gly					GM2A_uc011dcs.1_Intron	p.D1272G	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	3828	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1272			Extracellular (Potential).|Cadherin 11.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.3815A>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.702873	0.68501	.	.	ENSG00000086570	ENST00000261800	T	0.74632	-0.86	5.46	5.46	0.80206	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000005	D	0.90950	0.7155	H	0.97783	4.075	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	D	0.94142	0.7398	10	0.87932	D	0	.	15.019	0.71613	0.0:0.0:0.0:1.0	.	1272	Q9NYQ8	FAT2_HUMAN	G	1272	ENSP00000261800:D1272G	ENSP00000261800:D1272G	D	-	2	0	FAT2	150914246	1.000000	0.71417	0.996000	0.52242	0.274000	0.26718	7.590000	0.82653	2.191000	0.70037	0.533000	0.62120	GAT		0.557	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		39	187	0	0	0	0	39	187				
NSD1	64324	broad.mit.edu	37	5	176666861	176666861	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:176666861A>T	ENST00000439151.2	+	8	4342	c.4297A>T	c.(4297-4299)Aaa>Taa	p.K1433*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.K1330*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.K1164*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.K1164*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1433					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGGCCTTTCTAAAAAGGTATG	0.313			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(4297-4299)AAA>TAA		nuclear receptor binding SET domain protein 1							45.0	45.0	45.0					5																	176666861		2203	4298	6501	SO:0001587	stop_gained	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176666861A>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4297A>T	5.37:g.176666861A>T	ENSP00000395929:p.Lys1433*	HNSCC(47;0.14)				NSD1_uc003mft.3_Nonsense_Mutation_p.K1164*|NSD1_uc003mfs.1_Nonsense_Mutation_p.K1330*|NSD1_uc011dfx.1_Nonsense_Mutation_p.K1081*	p.K1433*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	8	4435	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1433					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.4297A>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	41	8.701939	0.98920	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	6.16	6.16	0.99307	.	0.183620	0.38605	N	0.001627	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3293	0.66545	1.0:0.0:0.0:0.0	.	.	.	.	X	1164;1433;1164;1330	.	ENSP00000343209:K1164X	K	+	1	0	NSD1	176599467	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.892000	0.56235	2.367000	0.80283	0.528000	0.53228	AAA		0.313	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		36	46	0	0	0	0	36	46				
GRM6	2916	broad.mit.edu	37	5	178410115	178410115	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:178410115G>A	ENST00000517717.1	-	10	2270	c.2232C>T	c.(2230-2232)tgC>tgT	p.C744C	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.C744C			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	744					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCGACATGTCGCACTTGAGCA	0.637																																						uc003mjr.2		NA																	0				lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(2230-2232)TGC>TGT		glutamate receptor, metabotropic 6 precursor							112.0	92.0	99.0					5																	178410115		2203	4300	6503	SO:0001819	synonymous_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178410115G>A	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2232C>T	5.37:g.178410115G>A						GRM6_uc003mjq.2_Silent_p.C147C	p.C744C	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	9	2411	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	744			Extracellular (Potential).			Silent	SNP	ENST00000517717.1	37	c.2232C>T	CCDS4442.1																																																																																				0.637	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			7	71	0	0	0	0	7	71				
FLT4	2324	broad.mit.edu	37	5	180048550	180048550	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:180048550G>A	ENST00000261937.6	-	13	2090	c.2012C>T	c.(2011-2013)tCg>tTg	p.S671L	FLT4_ENST00000502649.1_Missense_Mutation_p.S671L|FLT4_ENST00000393347.3_Missense_Mutation_p.S671L|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	671	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCCTGCACCGACAGGTACTT	0.677																																					Colon(97;1075 1466 27033 27547 35871)	uc003mma.3		NA																	0				lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(2011-2013)TCG>TTG		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						32.0	33.0	33.0					5																	180048550		2199	4291	6490	SO:0001583	missense	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048550G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2012C>T	5.37:g.180048550G>A	ENSP00000261937:p.Ser671Leu					FLT4_uc003mlz.3_Missense_Mutation_p.S671L|FLT4_uc003mmb.1_Missense_Mutation_p.S204L|FLT4_uc011dgy.1_Missense_Mutation_p.S671L	p.S671L	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	2091	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	671			Ig-like C2-type 6.|Extracellular (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.2012C>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535986	0.85812	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.77098	-1.07;-1.07;-1.06	4.52	4.52	0.55395	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84982	0.5593	M	0.69823	2.125	0.44995	D	0.99801	D;P;B;B	0.89917	1.0;0.635;0.374;0.374	D;B;B;B	0.65443	0.935;0.183;0.183;0.183	T	0.81829	-0.0753	9	0.11182	T	0.66	.	17.6368	0.88124	0.0:0.0:1.0:0.0	.	671;481;671;671	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	L	671;671;671;481	ENSP00000261937:S671L;ENSP00000377016:S671L;ENSP00000426057:S671L	ENSP00000261937:S671L	S	-	2	0	FLT4	179981156	1.000000	0.71417	0.966000	0.40874	0.975000	0.68041	7.404000	0.79996	2.235000	0.73313	0.561000	0.74099	TCG		0.677	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			11	60	0	0	0	0	11	60				
BTNL3	10917	broad.mit.edu	37	5	180432345	180432345	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:180432345C>A	ENST00000342868.6	+	8	1058	c.874C>A	c.(874-876)Ctg>Atg	p.L292M	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	292	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GGAGGTGACTCTGGATCCAGA	0.552																																						uc003mmr.2		NA																	0					0						c.(874-876)CTG>ATG		butyrophilin-like 3 precursor							34.0	39.0	37.0					5																	180432345		2200	4276	6476	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180432345C>A	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.874C>A	5.37:g.180432345C>A	ENSP00000341787:p.Leu292Met					BTNL3_uc010jlp.2_Missense_Mutation_p.L77M	p.L292M	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		8	1002	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	292			B30.2/SPRY.|Cytoplasmic (Potential).		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.874C>A	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312285	0.40895	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.37915	1.17	2.55	1.65	0.23941	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.56247	0.1972	M	0.78916	2.43	0.23445	N	0.997666	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.41215	-0.9521	9	0.87932	D	0	.	7.0666	0.25156	0.0:0.8481:0.0:0.1519	.	258;292	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	M	292;258	ENSP00000341787:L292M	ENSP00000341787:L292M	L	+	1	2	BTNL3	180364951	1.000000	0.71417	0.021000	0.16686	0.120000	0.20174	1.900000	0.39828	0.215000	0.20761	0.184000	0.17185	CTG		0.552	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		19	139	1	0	1.07e-15	1.34e-15	19	139				
DSP	1832	broad.mit.edu	37	6	7569464	7569464	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:7569464G>T	ENST00000379802.3	+	12	1806	c.1465G>T	c.(1465-1467)Gag>Tag	p.E489*	DSP_ENST00000418664.2_Nonsense_Mutation_p.E489*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	489	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.|SH3.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGACAACAACGAGCGCAGCAA	0.527																																						uc003mxp.1		NA																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(1465-1467)GAG>TAG		desmoplakin isoform I							162.0	131.0	141.0					6																	7569464		2203	4300	6503	SO:0001587	stop_gained	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7569464G>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1465G>T	6.37:g.7569464G>T	ENSP00000369129:p.Glu489*					DSP_uc003mxq.1_Nonsense_Mutation_p.E489*	p.E489*	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	12	1744	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	489			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Nonsense_Mutation	SNP	ENST00000379802.3	37	c.1465G>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	42	9.633013	0.99224	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	.	.	.	5.52	5.52	0.82312	.	0.098066	0.44097	D	0.000492	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	15.0058	0.71510	0.0:0.1418:0.8581:0.0	.	.	.	.	X	489;489;294	.	ENSP00000369129:E489X	E	+	1	0	DSP	7514463	1.000000	0.71417	0.858000	0.33744	0.984000	0.73092	7.119000	0.77145	2.591000	0.87537	0.650000	0.86243	GAG		0.527	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		83	91	1	0	1.13e-35	1.51e-35	83	91				
HIVEP1	3096	broad.mit.edu	37	6	12125336	12125336	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:12125336G>A	ENST00000379388.2	+	4	5640	c.5308G>A	c.(5308-5310)Gga>Aga	p.G1770R	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1770					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGATGAAAATGGAGCTGTTTG	0.423																																						uc003nac.2		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(5308-5310)GGA>AGA		human immunodeficiency virus type I enhancer							103.0	102.0	102.0					6																	12125336		1869	4114	5983	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12125336G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.5308G>A	6.37:g.12125336G>A	ENSP00000368698:p.Gly1770Arg					HIVEP1_uc011diq.1_RNA	p.G1770R	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	5487	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1770					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.5308G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380277	0.82682	.	.	ENSG00000095951	ENST00000379388	T	0.11604	2.76	5.62	5.62	0.85841	.	0.000000	0.32328	N	0.006242	T	0.31949	0.0813	M	0.85542	2.76	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.09228	-1.0684	9	.	.	.	-25.669	19.6536	0.95828	0.0:0.0:1.0:0.0	.	1770	P15822	ZEP1_HUMAN	R	1770	ENSP00000368698:G1770R	.	G	+	1	0	HIVEP1	12233322	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	7.876000	0.87215	2.631000	0.89168	0.655000	0.94253	GGA		0.423	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		129	130	0	0	0	0	129	130				
PRL	5617	broad.mit.edu	37	6	22287700	22287700	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:22287700C>A	ENST00000306482.1	-	5	1133	c.615G>T	c.(613-615)agG>agT	p.R205S	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	205					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TATGTGAATCCCTGCGTAGGC	0.463																																						uc003ndp.2		NA																	0					0						c.(613-615)AGG>AGT		prolactin precursor							240.0	211.0	221.0					6																	22287700		2203	4300	6503	SO:0001583	missense	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22287700C>A	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.615G>T	6.37:g.22287700C>A	ENSP00000302150:p.Arg205Ser					PRL_uc003ndo.2_Missense_Mutation_p.R206S|PRL_uc003ndq.2_Missense_Mutation_p.R205S	p.R205S	NM_000948	NP_000939	P01236	PRL_HUMAN			5	1134	-	Ovarian(93;0.163)		205					Q15199|Q92996	Missense_Mutation	SNP	ENST00000306482.1	37	c.615G>T	CCDS4548.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925290	0.52759	.	.	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.89485	-2.52	5.66	2.81	0.32909	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	D	0.90964	0.7159	M	0.86028	2.79	0.58432	D	0.999996	B;P	0.40931	0.008;0.733	B;P	0.60609	0.166;0.877	D	0.89478	0.3748	10	0.56958	D	0.05	-1.8729	6.065	0.19858	0.1316:0.6307:0.0:0.2377	.	205;206	P01236;Q5I0G2	PRL_HUMAN;.	S	205;174	ENSP00000302150:R205S	ENSP00000302150:R205S	R	-	3	2	PRL	22395679	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.605000	0.24179	0.367000	0.24454	0.655000	0.94253	AGG		0.463	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		164	149	1	0	1.04e-72	1.4e-72	164	149				
HIST1H4B	8366	broad.mit.edu	37	6	26027337	26027337	+	Silent	SNP	G	G	A	rs141516292	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:26027337G>A	ENST00000377364.3	-	1	143	c.144C>T	c.(142-144)tcC>tcT	p.S48S		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	48					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						AAATCAAACCGGAAATTCGCT	0.567													G|||	4	0.000798722	0.0008	0.0	5008	,	,		15908	0.001		0.002	False		,,,				2504	0.0					uc003nfr.2		NA																	0				ovary(2)	2						c.(142-144)TCC>TCT		histone cluster 1, H4b		G		2,4404		0,2,2201	79.0	70.0	73.0		144	-8.0	0.1	6	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous	HIST1H4B	NM_003544.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		48/104	26027337	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027337G>A	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.144C>T	6.37:g.26027337G>A							p.S48S	NM_003544	NP_003535	P62805	H4_HUMAN			1	144	-			48					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000377364.3	37	c.144C>T	CCDS4572.1																																																																																				0.567	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		25	137	0	0	0	0	25	137				
HIST1H4F	8361	broad.mit.edu	37	6	26240930	26240930	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:26240930C>T	ENST00000377745.2	+	1	370	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	93					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CGCGCTCAAGCGCCAGGGACG	0.547																																						uc003nhe.1		NA																	0					0						c.(277-279)CGC>TGC		histone cluster 1, H4f							92.0	78.0	83.0					6																	26240930		2203	4300	6503	SO:0001583	missense	8361				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26240930C>T	M60749	CCDS4598.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198327			"""Histones / Replication-dependent"""	4783	protein-coding gene	gene with protein product		602824	"""H4 histone family, member C"", ""histone 1, H4f"""	H4FC		1916825, 9119399, 12408966	Standard	NM_003540		Approved	H4/c, H4	uc003nhe.1	P62805	OTTHUMG00000014443	ENST00000377745.2:c.277C>T	6.37:g.26240930C>T	ENSP00000366974:p.Arg93Cys						p.R93C	NM_003540	NP_003531	P62805	H4_HUMAN			1	277	+		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	93					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377745.2	37	c.277C>T	CCDS4598.1	.	.	.	.	.	.	.	.	.	.	.	18.25	3.582171	0.65992	.	.	ENSG00000198327	ENST00000377745	T	0.69040	-0.37	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	.	.	.	0.48395	D	0.999642	.	.	.	.	.	.	T	0.75377	-0.3339	7	0.54805	T	0.06	.	16.4132	0.83726	0.0:1.0:0.0:0.0	.	.	.	.	C	93	ENSP00000366974:R93C	ENSP00000366974:R93C	R	+	1	0	HIST1H4F	26348909	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	5.669000	0.68081	2.430000	0.82344	0.563000	0.77884	CGC		0.547	HIST1H4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040106.1	NM_003540		7	131	0	0	0	0	7	131				
OR2W1	26692	broad.mit.edu	37	6	29012622	29012622	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:29012622C>G	ENST00000377175.1	-	1	395	c.331G>C	c.(331-333)Gag>Cag	p.E111Q		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGAAGGCACTCAACTGAGCCC	0.433																																						uc003nlw.2		NA																	0				ovary(2)|skin(1)	3						c.(331-333)GAG>CAG		olfactory receptor, family 2, subfamily W,							99.0	78.0	85.0					6																	29012622		1511	2709	4220	SO:0001583	missense	26692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29012622C>G	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.331G>C	6.37:g.29012622C>G	ENSP00000366380:p.Glu111Gln						p.E111Q	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN			1	331	-			111			Helical; Name=3; (Potential).		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	c.331G>C	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742045	0.49151	.	.	ENSG00000204704	ENST00000377175	T	0.00414	7.52	4.79	4.79	0.61399	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000087	T	0.01029	0.0034	M	0.93016	3.37	0.35534	D	0.802512	D	0.89917	1.0	D	0.87578	0.998	T	0.43130	-0.9410	10	0.87932	D	0	.	16.3937	0.83548	0.0:1.0:0.0:0.0	.	111	Q9Y3N9	OR2W1_HUMAN	Q	111	ENSP00000366380:E111Q	ENSP00000366380:E111Q	E	-	1	0	OR2W1	29120601	0.497000	0.26067	0.915000	0.36163	0.497000	0.33675	1.505000	0.35736	2.175000	0.68902	0.591000	0.81541	GAG		0.433	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			21	123	0	0	0	0	21	123				
OR2J2	26707	broad.mit.edu	37	6	29141990	29141990	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:29141990C>A	ENST00000377167.2	+	1	680	c.578C>A	c.(577-579)aCc>aAc	p.T193N		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TGTGTTGACACCCATGCAAAT	0.473																																						uc011dlm.1		NA																	0					0						c.(577-579)ACC>AAC		olfactory receptor, family 2, subfamily J,							160.0	138.0	145.0					6																	29141990		1948	4164	6112	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141990C>A		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.578C>A	6.37:g.29141990C>A	ENSP00000366372:p.Thr193Asn						p.T193N	NM_030905	NP_112167	O76002	OR2J2_HUMAN			1	680	+			193			Extracellular (Potential).		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.578C>A	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	C	8.556	0.876702	0.17395	.	.	ENSG00000204700	ENST00000377167	T	0.00256	8.42	2.3	0.297	0.15762	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00271	0.0008	M	0.89785	3.06	0.09310	N	1	D	0.76494	0.999	D	0.72982	0.979	T	0.38023	-0.9680	9	0.87932	D	0	.	6.343	0.21332	0.0:0.589:0.0:0.411	.	193	O76002	OR2J2_HUMAN	N	193	ENSP00000366372:T193N	ENSP00000366372:T193N	T	+	2	0	OR2J2	29249969	0.000000	0.05858	0.049000	0.19019	0.367000	0.29736	-0.285000	0.08410	-0.092000	0.12417	0.205000	0.17691	ACC		0.473	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			41	339	1	0	1.5e-21	1.94e-21	41	339				
MOG	4340	broad.mit.edu	37	6	29638476	29638476	+	Splice_Site	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:29638476A>G	ENST00000376917.3	+	7	938		c.e7-1		MOG_ENST00000483013.1_Splice_Site|MOG_ENST00000431798.2_Splice_Site|MOG_ENST00000494692.1_Splice_Site|MOG_ENST00000376888.2_Splice_Site|MOG_ENST00000533330.2_Splice_Site|MOG_ENST00000376891.4_Intron|MOG_ENST00000376894.4_Splice_Site|MOG_ENST00000490427.1_Splice_Site|MOG_ENST00000396704.3_Splice_Site|MOG_ENST00000376902.3_Splice_Site|MOG_ENST00000396701.2_Splice_Site|MOG_ENST00000416766.2_Splice_Site|MOG_ENST00000376898.3_Splice_Site	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TTTTGTTTTCAGGGCAATTCC	0.438																																						uc003nnf.2		NA																	0				ovary(1)	1						c.e7-2		myelin oligodendrocyte glycoprotein isoform							70.0	58.0	62.0					6																	29638476		1511	2709	4220	SO:0001630	splice_region_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29638476A>G		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.710-1A>G	6.37:g.29638476A>G						MOG_uc003nmy.1_Splice_Site_p.G237_splice|MOG_uc003nmz.2_Splice_Site|MOG_uc011dlt.1_Splice_Site_p.G167_splice|MOG_uc003nna.2_Splice_Site_p.G121_splice|MOG_uc011dlu.1_Splice_Site_p.G98_splice|MOG_uc011dlv.1_Splice_Site_p.G82_splice|MOG_uc003nnd.2_Splice_Site|MOG_uc003nne.2_Splice_Site_p.G237_splice|MOG_uc003nng.2_Splice_Site_p.G214_splice|MOG_uc003nnh.2_Splice_Site_p.G198_splice|MOG_uc003nni.2_Splice_Site_p.G214_splice|MOG_uc003nnj.2_Splice_Site_p.G198_splice|MOG_uc003nnk.2_Intron	p.G237_splice	NM_206809	NP_996532	Q16653	MOG_HUMAN			7	888	+								A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Splice_Site	SNP	ENST00000376917.3	37	c.710_splice	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.431882	0.62844	.	.	ENSG00000204655	ENST00000376917;ENST00000376888;ENST00000376894;ENST00000483013;ENST00000490427;ENST00000416766;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.355	0.49611	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MOG	29746455	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.914000	0.56401	2.188000	0.69820	0.533000	0.62120	.		0.438	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433	Intron	24	30	0	0	0	0	24	30				
TRIM26	7726	broad.mit.edu	37	6	30166209	30166209	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:30166209C>T	ENST00000454678.2	-	5	967	c.531G>A	c.(529-531)gcG>gcA	p.A177A	TRIM26_ENST00000437089.1_Silent_p.A177A|TRIM26_ENST00000453195.1_Silent_p.A177A|TRIM26_ENST00000487829.1_5'Flank	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	177					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						CACTTACCAGCGCGGCCAGGA	0.577																																						uc003npr.2		NA																	0				ovary(2)|lung(1)	3						c.(529-531)GCG>GCA		tripartite motif-containing 26							114.0	120.0	118.0					6																	30166209		1511	2709	4220	SO:0001819	synonymous_variant	7726						DNA binding|zinc ion binding	g.chr6:30166209C>T	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.531G>A	6.37:g.30166209C>T						TRIM26_uc003nps.2_Silent_p.A177A|TRIM26_uc010jry.2_5'UTR|TRIM26_uc003npt.2_Silent_p.A177A	p.A177A	NM_003449	NP_003440	Q12899	TRI26_HUMAN			4	740	-			177					A6NG96|Q5SRL2	Silent	SNP	ENST00000454678.2	37	c.531G>A	CCDS4678.1																																																																																				0.577	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449		17	202	0	0	0	0	17	202				
NOTCH4	4855	broad.mit.edu	37	6	32180994	32180994	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:32180994G>A	ENST00000375023.3	-	15	2494	c.2356C>T	c.(2356-2358)Cct>Tct	p.P786S	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	786	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AAGGTGCCAGGCCTGTTCACA	0.627																																						uc003obb.2		NA																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(2356-2358)CCT>TCT		notch4 preproprotein							60.0	65.0	63.0					6																	32180994		2203	4300	6503	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32180994G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2356C>T	6.37:g.32180994G>A	ENSP00000364163:p.Pro786Ser					NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	p.P786S	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			15	2495	-			786			EGF-like 20.|Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.2356C>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850419	0.32699	.	.	ENSG00000204301	ENST00000375023	D	0.91124	-2.79	4.17	3.22	0.36961	EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.175192	0.27613	N	0.018589	T	0.78654	0.4317	N	0.12422	0.21	0.36310	D	0.857577	P	0.52842	0.956	P	0.48770	0.589	T	0.82460	-0.0446	10	0.72032	D	0.01	.	8.6709	0.34149	0.0:0.0:0.7725:0.2275	.	786	Q99466	NOTC4_HUMAN	S	786	ENSP00000364163:P786S	ENSP00000364163:P786S	P	-	1	0	NOTCH4	32288972	0.000000	0.05858	0.919000	0.36401	0.166000	0.22503	0.430000	0.21428	2.338000	0.79540	0.485000	0.47835	CCT		0.627	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			72	79	0	0	0	0	72	79				
RPL10A	4736	broad.mit.edu	37	6	35438521	35438521	+	Silent	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:35438521A>G	ENST00000322203.6	+	6	675	c.648A>G	c.(646-648)ctA>ctG	p.L216L	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	216					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						CCCAGCGCCTATATTAAGGCA	0.493																																						uc003okp.1		NA																	0				ovary(1)	1						c.(646-648)CTA>CTG		ribosomal protein L10a							27.0	27.0	27.0					6																	35438521		2189	4277	6466	SO:0001819	synonymous_variant	4736				anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr6:35438521A>G	U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"""L ribosomal proteins"""	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.648A>G	6.37:g.35438521A>G						RPL10A_uc003okq.1_Silent_p.L132L|RPL10A_uc003okr.1_Silent_p.L132L|RPL10A_uc003oks.1_Silent_p.L132L	p.L216L	NM_007104	NP_009035	P62906	RL10A_HUMAN			6	682	+			216					B2R801|P52859|P53025|Q5TZT6|Q8J013	Silent	SNP	ENST00000322203.6	37	c.648A>G	CCDS4806.1																																																																																				0.493	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104		64	66	0	0	0	0	64	66				
DAAM2	23500	broad.mit.edu	37	6	39838206	39838206	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:39838206G>T	ENST00000398904.2	+	8	1146	c.964G>T	c.(964-966)Gcc>Tcc	p.A322S	DAAM2_ENST00000538976.1_Missense_Mutation_p.A322S|DAAM2_ENST00000274867.4_Missense_Mutation_p.A322S			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	322	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACATGAAAATGCCATCCTGGA	0.517																																						uc003oow.2		NA																	0				ovary(2)|skin(1)	3						c.(964-966)GCC>TCC		dishevelled associated activator of							43.0	42.0	42.0					6																	39838206		2021	4192	6213	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39838206G>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.964G>T	6.37:g.39838206G>T	ENSP00000381876:p.Ala322Ser					DAAM2_uc010jxc.2_Missense_Mutation_p.A322S|DAAM2_uc003oox.2_Missense_Mutation_p.A322S	p.A322S	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			8	1120	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		322			GBD/FH3.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.964G>T	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574475	0.65878	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.86366	-2.11;-2.11;-2.11	6.04	6.04	0.98038	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68677	0.3027	N	0.21097	0.63	0.80722	D	1	B;B	0.32283	0.312;0.362	B;B	0.34301	0.112;0.179	T	0.68462	-0.5402	10	0.09590	T	0.72	.	14.9563	0.71116	0.0:0.0:0.8571:0.1429	.	322;322	G5EA45;Q86T65	.;DAAM2_HUMAN	S	322	ENSP00000274867:A322S;ENSP00000381876:A322S;ENSP00000437808:A322S	ENSP00000274867:A322S	A	+	1	0	DAAM2	39946184	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.545000	0.67237	2.873000	0.98535	0.561000	0.74099	GCC		0.517	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			7	10	1	0	2.01e-06	2.26e-06	7	10				
DAAM2	23500	broad.mit.edu	37	6	39855276	39855276	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:39855276C>T	ENST00000398904.2	+	16	2150	c.1968C>T	c.(1966-1968)tcC>tcT	p.S656S	DAAM2_ENST00000538976.1_Silent_p.S656S|RP11-61I13.3_ENST00000607215.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000607675.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000274867.4_Silent_p.S656S			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	656	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGCTGGGCTCCACTGAAGACA	0.542																																						uc003oow.2		NA																	0				ovary(2)|skin(1)	3						c.(1966-1968)TCC>TCT		dishevelled associated activator of							58.0	63.0	61.0					6																	39855276		1933	4130	6063	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39855276C>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1968C>T	6.37:g.39855276C>T						DAAM2_uc003oox.2_Silent_p.S656S|uc003ooz.1_5'Flank	p.S656S	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			16	2124	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		656			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.1968C>T	CCDS56426.1																																																																																				0.542	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			10	50	0	0	0	0	10	50				
SUPT3H	8464	broad.mit.edu	37	6	44922282	44922282	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:44922282C>T	ENST00000371459.1	-	8	808	c.643G>A	c.(643-645)Gtt>Att	p.V215I	SUPT3H_ENST00000371461.2_Missense_Mutation_p.V226I|SUPT3H_ENST00000371460.1_Missense_Mutation_p.V226I|SUPT3H_ENST00000306867.5_Missense_Mutation_p.V215I|SUPT3H_ENST00000371458.1_5'UTR	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	297					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						ATTGCGACAACATTGGGTTTT	0.383																																						uc003oxo.2		NA																	0				ovary(2)|breast(1)	3						c.(676-678)GTT>ATT		suppressor of Ty 3 homolog isoform 2							174.0	166.0	168.0					6																	44922282		2203	4300	6503	SO:0001583	missense	8464				histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	g.chr6:44922282C>T	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.643G>A	6.37:g.44922282C>T	ENSP00000360514:p.Val215Ile					SUPT3H_uc003oxn.1_Missense_Mutation_p.V215I|SUPT3H_uc011dvv.1_Missense_Mutation_p.V63I|SUPT3H_uc003oxp.2_Missense_Mutation_p.V215I|SUPT3H_uc011dvw.1_Missense_Mutation_p.V129I	p.V226I	NM_181356	NP_852001	O75486	SUPT3_HUMAN			10	994	-			297					A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371459.1	37	c.676G>A	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204252	0.38905	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	T;T;T;T	0.42900	0.96;0.97;0.97;0.96	5.76	3.92	0.45320	.	0.392585	0.30060	N	0.010515	T	0.13457	0.0326	L	0.29908	0.895	0.27096	N	0.962738	B;B	0.22276	0.006;0.067	B;B	0.15052	0.004;0.012	T	0.12578	-1.0542	10	0.38643	T	0.18	.	11.1219	0.48296	0.0:0.8489:0.0:0.1511	.	226;297	O75486-3;O75486	.;SUPT3_HUMAN	I	226;215;215;226	ENSP00000360515:V226I;ENSP00000360514:V215I;ENSP00000306718:V215I;ENSP00000360516:V226I	ENSP00000306718:V215I	V	-	1	0	SUPT3H	45030260	1.000000	0.71417	0.221000	0.23827	0.987000	0.75469	2.268000	0.43338	0.724000	0.32296	0.555000	0.69702	GTT		0.383	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356		22	265	0	0	0	0	22	265				
MEP1A	4224	broad.mit.edu	37	6	46761196	46761196	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:46761196G>T	ENST00000230588.4	+	1	70	c.61G>T	c.(61-63)Gct>Tct	p.A21S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	21					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CCACATAGCAGCTGTACCGGT	0.343																																						uc010jzh.1		NA																	0				pancreas(2)|ovary(1)	3						c.(61-63)GCT>TCT		meprin A alpha precursor							201.0	184.0	190.0					6																	46761196		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46761196G>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.61G>T	6.37:g.46761196G>T	ENSP00000230588:p.Ala21Ser					MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Missense_Mutation_p.A21S|MEP1A_uc011dwi.1_5'UTR	p.A21S	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		1	103	+			21					A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.61G>T	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	7.266	0.606117	0.14002	.	.	ENSG00000112818	ENST00000230588	T	0.25414	1.8	5.47	3.59	0.41128	.	0.543809	0.20231	N	0.096467	T	0.11024	0.0269	L	0.58101	1.795	0.41020	D	0.985073	B;B	0.19445	0.036;0.024	B;B	0.18263	0.021;0.005	T	0.08186	-1.0734	10	0.29301	T	0.29	-15.7438	5.7746	0.18271	0.0963:0.0:0.711:0.1927	.	21;21	B7ZL91;Q16819	.;MEP1A_HUMAN	S	21	ENSP00000230588:A21S	ENSP00000230588:A21S	A	+	1	0	MEP1A	46869155	0.997000	0.39634	1.000000	0.80357	0.173000	0.22820	2.128000	0.42045	2.729000	0.93468	0.655000	0.94253	GCT		0.343	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		129	389	1	0	2.1e-94	2.84e-94	129	389				
GPR111	222611	broad.mit.edu	37	6	47650333	47650333	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:47650333A>T	ENST00000296862.1	+	6	2038	c.2038A>T	c.(2038-2040)Att>Ttt	p.I680F	GPR111_ENST00000398742.2_Missense_Mutation_p.I612F|GPR111_ENST00000507065.1_Missense_Mutation_p.I612F			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	680					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GGCCTTCCACATTATCTTCTC	0.483																																						uc010jzj.1		NA																	0				skin(1)	1						c.(2038-2040)ATT>TTT		G-protein coupled receptor 111							67.0	66.0	66.0					6																	47650333		2087	4246	6333	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47650333A>T	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.2038A>T	6.37:g.47650333A>T	ENSP00000296862:p.Ile680Phe					GPR111_uc010jzk.1_Missense_Mutation_p.I612F|GPR111_uc003oyy.2_RNA	p.I680F	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN			6	2039	+			680			Helical; Name=7; (Potential).		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.2038A>T		.	.	.	.	.	.	.	.	.	.	A	17.47	3.396471	0.62177	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.56444	0.46;0.46;0.46	5.64	1.96	0.26148	GPCR, family 2-like (1);	0.387744	0.24700	N	0.036305	T	0.48978	0.1530	M	0.64567	1.98	0.32191	N	0.579089	P;D	0.60575	0.91;0.988	P;P	0.60541	0.736;0.876	T	0.51411	-0.8709	10	0.59425	D	0.04	.	9.2386	0.37481	0.633:0.0:0.367:0.0	.	612;680	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	F	612;680;612	ENSP00000422934:I612F;ENSP00000296862:I680F;ENSP00000381727:I612F	ENSP00000296862:I680F	I	+	1	0	GPR111	47758292	0.013000	0.17824	0.996000	0.52242	0.979000	0.70002	-0.164000	0.09983	0.103000	0.17682	0.533000	0.62120	ATT		0.483	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		52	85	0	0	0	0	52	85				
AIM1	202	broad.mit.edu	37	6	106969128	106969128	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:106969128C>G	ENST00000369066.3	+	2	3308	c.2821C>G	c.(2821-2823)Cta>Gta	p.L941V		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ACGAAGCAACCTACACTTGCC	0.363																																						uc003prh.2		NA																	0				breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9						c.(2821-2823)CTA>GTA		absent in melanoma 1							76.0	85.0	82.0					6																	106969128		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106969128C>G	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2821C>G	6.37:g.106969128C>G	ENSP00000358062:p.Leu941Val						p.L941V	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	3308	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	941					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.2821C>G	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	c	1.324	-0.598797	0.03744	.	.	ENSG00000112297	ENST00000369066	T	0.73152	-0.72	5.99	2.3	0.28687	.	1.587120	0.03422	N	0.206475	T	0.51534	0.1680	M	0.67953	2.075	0.26264	N	0.978535	P	0.50443	0.935	B	0.43194	0.411	T	0.27502	-1.0072	10	0.25751	T	0.34	.	7.1654	0.25687	0.0:0.594:0.2636:0.1424	.	941	Q9Y4K1	AIM1_HUMAN	V	941	ENSP00000358062:L941V	ENSP00000358062:L941V	L	+	1	2	AIM1	107075821	0.070000	0.21116	0.012000	0.15200	0.216000	0.24613	0.827000	0.27421	0.145000	0.18977	-0.730000	0.03578	CTA		0.363	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			45	61	0	0	0	0	45	61				
KIAA1919	91749	broad.mit.edu	37	6	111588223	111588223	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:111588223C>G	ENST00000368847.4	+	4	1811	c.1458C>G	c.(1456-1458)taC>taG	p.Y486*		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	486					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		ATAATCAATACCCATCAAATG	0.403																																						uc003puv.3		NA																	0				ovary(3)	3						c.(1456-1458)TAC>TAG		sodium-dependent glucose transporter 1							109.0	111.0	111.0					6																	111588223		2203	4300	6503	SO:0001587	stop_gained	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111588223C>G	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.1458C>G	6.37:g.111588223C>G	ENSP00000357840:p.Tyr486*						p.Y486*	NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	4	1880	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	486			Cytoplasmic (Potential).		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Nonsense_Mutation	SNP	ENST00000368847.4	37	c.1458C>G	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024709	0.93518	.	.	ENSG00000173214	ENST00000368847	.	.	.	5.61	-5.63	0.02474	.	2.057930	0.01816	N	0.033754	.	.	.	.	.	.	0.46654	D	0.999149	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4224	6.3088	0.21153	0.3451:0.2297:0.0:0.4252	.	.	.	.	X	486	.	ENSP00000357840:Y486X	Y	+	3	2	KIAA1919	111694916	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.535000	0.06142	-1.224000	0.02581	-1.193000	0.01689	TAC		0.403	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		29	83	0	0	0	0	29	83				
SYNE1	23345	broad.mit.edu	37	6	152702405	152702405	+	Silent	SNP	C	C	G	rs533882082	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:152702405C>G	ENST00000367255.5	-	56	9346	c.8745G>C	c.(8743-8745)ggG>ggC	p.G2915G	SYNE1_ENST00000423061.1_Silent_p.G2922G|SYNE1-AS1_ENST00000412161.1_RNA|SYNE1_ENST00000341594.5_Silent_p.G2954G|SYNE1_ENST00000265368.4_Silent_p.G2915G|SYNE1_ENST00000448038.1_Silent_p.G2922G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2915					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAGCTCACACCCACTGGCAG	0.547										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(8743-8745)GGG>GGC		spectrin repeat containing, nuclear envelope 1							115.0	112.0	113.0					6																	152702405		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152702405C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8745G>C	6.37:g.152702405C>G		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.G2922G|SYNE1_uc003qou.3_Silent_p.G2915G|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_5'UTR|SYNE1_uc010kjb.1_Silent_p.G2898G	p.G2915G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	56	9347	-		Ovarian(120;0.0955)	2915			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.8745G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992636	0.54041	.	.	ENSG00000131018	ENST00000454018	T	0.59772	0.24	6.01	3.28	0.37604	.	0.000000	0.64402	D	0.000006	T	0.41442	0.1159	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25257	-1.0137	7	0.27785	T	0.31	.	9.3134	0.37919	0.0:0.3709:0.4938:0.1353	.	.	.	.	A	32	ENSP00000390858:G32A	ENSP00000390858:G32A	G	-	2	0	SYNE1	152744098	0.954000	0.32549	1.000000	0.80357	0.999000	0.98932	0.436000	0.21526	0.430000	0.26230	0.650000	0.86243	GGT		0.547	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		100	148	0	0	0	0	100	148				
CNKSR3	154043	broad.mit.edu	37	6	154727662	154727662	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:154727662G>C	ENST00000607772.1	-	13	2038	c.1494C>G	c.(1492-1494)gaC>gaG	p.D498E	CNKSR3_ENST00000433165.2_Missense_Mutation_p.D323E|CNKSR3_ENST00000479339.1_Missense_Mutation_p.D418E	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	498	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CTCGGATGTAGTCCGCACCCC	0.567																																						uc003qpy.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(1492-1494)GAC>GAG		CNKSR family member 3							129.0	114.0	119.0					6																	154727662		2203	4300	6503	SO:0001583	missense	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154727662G>C	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1494C>G	6.37:g.154727662G>C	ENSP00000475915:p.Asp498Glu						p.D498E	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	13	1999	-		Ovarian(120;0.196)	498			DUF1170.		Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	37	c.1494C>G	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417434	0.83449	.	.	ENSG00000153721	ENST00000367213;ENST00000433165;ENST00000479339	T;T;T	0.61158	0.84;0.13;0.18	4.93	4.05	0.47172	Connector enhancer of kinase suppressor of ras 2 (1);	0.166446	0.51477	D	0.000086	T	0.62380	0.2423	M	0.62723	1.935	0.30727	N	0.747671	D	0.89917	1.0	D	0.87578	0.998	T	0.59637	-0.7417	10	0.72032	D	0.01	.	10.5	0.44800	0.1517:0.0:0.8483:0.0	.	498	Q6P9H4	CNKR3_HUMAN	E	498;323;418	ENSP00000356182:D498E;ENSP00000414185:D323E;ENSP00000418975:D418E	ENSP00000356182:D498E	D	-	3	2	CNKSR3	154769354	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.743000	0.55104	2.444000	0.82710	0.655000	0.94253	GAC		0.567	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		44	94	0	0	0	0	44	94				
TCP10L2	401285	broad.mit.edu	37	6	167590618	167590618	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:167590618C>T	ENST00000366832.2	+	4	625	c.494C>T	c.(493-495)cCa>cTa	p.P165L		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	165										endometrium(1)|kidney(2)|lung(3)	6						TTAGCTCCTCCAAAGGTGACC	0.522																																						uc010kkp.2		NA																	0					0						c.(493-495)CCA>CTA		t-complex 10-like 2							72.0	44.0	53.0					6																	167590618		692	1578	2270	SO:0001583	missense	401285							g.chr6:167590618C>T		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.494C>T	6.37:g.167590618C>T	ENSP00000355797:p.Pro165Leu						p.P165L	NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN			4	625	+			165						Missense_Mutation	SNP	ENST00000366832.2	37	c.494C>T	CCDS47514.1	.	.	.	.	.	.	.	.	.	.	C	5.552	0.286690	0.10513	.	.	ENSG00000166984	ENST00000366832	T	0.23348	1.91	1.73	-0.48	0.12085	.	.	.	.	.	T	0.19046	0.0457	L	0.57536	1.79	0.09310	N	1	D	0.65815	0.995	P	0.61003	0.882	T	0.06041	-1.0849	9	0.62326	D	0.03	.	1.8603	0.03187	0.3267:0.4476:0.0:0.2256	.	165	B9ZVM9	TCP2L_HUMAN	L	165	ENSP00000355797:P165L	ENSP00000283507:P165L	P	+	2	0	TCP10L2	167510608	0.005000	0.15991	0.001000	0.08648	0.030000	0.12068	0.655000	0.24933	0.035000	0.15519	0.162000	0.16502	CCA		0.522	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		24	58	0	0	0	0	24	58				
TCP10	6953	broad.mit.edu	37	6	167791447	167791447	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:167791447G>A	ENST00000397829.4	-	4	580	c.413C>T	c.(412-414)cCa>cTa	p.P138L	TCP10_ENST00000366827.2_Missense_Mutation_p.P138L	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	165						cytosol (GO:0005829)		p.P138Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GGTCACCTTTGGAGGAGCTAA	0.522																																						uc003qvv.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(412-414)CCA>CTA		t-complex 10							112.0	133.0	126.0					6																	167791447		2203	4297	6500	SO:0001583	missense	6953					cytosol		g.chr6:167791447G>A	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.413C>T	6.37:g.167791447G>A	ENSP00000380929:p.Pro138Leu					TCP10_uc003qvu.2_Missense_Mutation_p.P138L|TCP10_uc003qvw.2_Missense_Mutation_p.P114L	p.P138L	NM_004610	NP_004601	Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	4	625	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	165					Q5JR60|Q6P4F4	Missense_Mutation	SNP	ENST00000397829.4	37	c.413C>T	CCDS43527.1	.	.	.	.	.	.	.	.	.	.	G	0.936	-0.711166	0.03230	.	.	ENSG00000203690	ENST00000366827;ENST00000397829;ENST00000460930	T;T;T	0.54479	1.89;1.92;0.57	1.4	-0.785	0.10950	.	.	.	.	.	T	0.42154	0.1190	L	0.54323	1.7	0.09310	N	1	D;D;D	0.69078	0.997;0.995;0.995	D;P;P	0.68483	0.958;0.882;0.882	T	0.19712	-1.0297	9	0.59425	D	0.04	.	1.8242	0.03117	0.233:0.0:0.4417:0.3252	.	138;165;165	D1MPS5;Q12799;Q12799-2	.;TCP10_HUMAN;.	L	138;138;134	ENSP00000355792:P138L;ENSP00000380929:P138L;ENSP00000426065:P134L	ENSP00000355792:P138L	P	-	2	0	TCP10	167711437	0.005000	0.15991	0.000000	0.03702	0.038000	0.13279	1.008000	0.29872	-0.270000	0.09285	0.313000	0.20887	CCA		0.522	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		42	237	0	0	0	0	42	237				
SUN1	23353	broad.mit.edu	37	7	893209	893209	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:893209G>T	ENST00000405266.1	+	11	1352	c.1328G>T	c.(1327-1329)gGg>gTg	p.G443V	SUN1_ENST00000452783.2_Missense_Mutation_p.G303V|SUN1_ENST00000413514.2_Missense_Mutation_p.G215V|SUN1_ENST00000425407.2_Missense_Mutation_p.G323V|SUN1_ENST00000401592.1_Missense_Mutation_p.G406V|SUN1_ENST00000456758.2_Missense_Mutation_p.G595V|SUN1_ENST00000389574.3_Missense_Mutation_p.G323V			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	433					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCGCTGCCGGGCCGTCAGCT	0.647																																						uc011jvp.1		NA																	0					0						c.(1216-1218)GGG>GTG		unc-84 homolog A isoform a							28.0	33.0	31.0					7																	893209		1991	4167	6158	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:893209G>T	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1328G>T	7.37:g.893209G>T	ENSP00000384116:p.Gly443Val					GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.G323V|SUN1_uc011jvq.1_Missense_Mutation_p.G303V|SUN1_uc003sjg.2_Missense_Mutation_p.G311V|SUN1_uc011jvr.1_Missense_Mutation_p.G215V|SUN1_uc003sji.2_Missense_Mutation_p.G244V|SUN1_uc003sjk.2_Missense_Mutation_p.G45V	p.G406V	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			11	1296	+			433			Perinuclear space.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.1217G>T		.	.	.	.	.	.	.	.	.	.	G	9.983	1.228657	0.22542	.	.	ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514	T;T;T;T;T;T;T;T	0.22539	2.29;2.33;2.34;2.33;2.33;2.33;2.02;1.95	3.84	0.488	0.16848	.	1.237350	0.06081	U	0.661806	T	0.26702	0.0653	L	0.48642	1.525	0.09310	N	0.999997	P;B;D;P;P;P	0.61697	0.916;0.444;0.99;0.807;0.865;0.844	P;B;P;B;P;P	0.57101	0.489;0.215;0.813;0.295;0.516;0.558	T	0.23476	-1.0187	10	0.15952	T	0.53	-13.9732	3.2657	0.06864	0.3054:0.2139:0.4807:0.0	.	215;303;406;595;433;323	E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5	.;.;.;.;SUN1_HUMAN;.	V	595;323;303;443;406;433;323;331;215	ENSP00000388743:G595V;ENSP00000374225:G323V;ENSP00000413439:G303V;ENSP00000384116:G443V;ENSP00000384015:G406V;ENSP00000392309:G323V;ENSP00000409909:G331V;ENSP00000389313:G215V	ENSP00000297445:G433V	G	+	2	0	SUN1	859735	0.021000	0.18746	0.001000	0.08648	0.010000	0.07245	0.881000	0.28173	0.083000	0.17047	0.655000	0.94253	GGG		0.647	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		18	58	1	0	7.42e-09	8.7e-09	18	58				
ABCB5	340273	broad.mit.edu	37	7	20793095	20793095	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:20793095A>G	ENST00000404938.2	+	27	4194	c.3542A>G	c.(3541-3543)gAg>gGg	p.E1181G	ABCB5_ENST00000258738.6_Missense_Mutation_p.E736G	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1181	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTGTTGGATGAGGCCACTTCA	0.398																																						uc003suw.3		NA																	0				skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(2206-2208)GAG>GGG		ATP-binding cassette, sub-family B, member 5							104.0	104.0	104.0					7																	20793095		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20793095A>G	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3542A>G	7.37:g.20793095A>G	ENSP00000384881:p.Glu1181Gly					ABCB5_uc010kuh.2_Missense_Mutation_p.E1181G	p.E736G	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			18	2753	+			736			Cytoplasmic (Potential).|ABC transporter 2.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.2207A>G	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.503718	0.85176	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.98150	-4.75;-4.75	5.16	5.16	0.70880	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.56097	D	0.000030	D	0.99248	0.9738	H	0.98594	4.275	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98681	1.0692	10	0.87932	D	0	.	14.1056	0.65088	1.0:0.0:0.0:0.0	.	1181;736	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	G	1181;736	ENSP00000384881:E1181G;ENSP00000258738:E736G	ENSP00000258738:E736G	E	+	2	0	ABCB5	20759620	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.925000	0.92832	2.167000	0.68274	0.454000	0.30748	GAG		0.398	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		23	100	0	0	0	0	23	100				
JAZF1	221895	broad.mit.edu	37	7	27872583	27872583	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:27872583T>C	ENST00000283928.5	-	5	733	c.568A>G	c.(568-570)Ata>Gta	p.I190V	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	190					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						TGATACTTTATGCCATTCACA	0.438			T	SUZ12	endometrial stromal tumours																																	uc003szn.2		NA		Dom	yes		7	7p15.2-p15.1	221895	T	juxtaposed with another zinc finger gene 1			M	SUZ12		endometrial stromal tumours	JAZF1/SUZ12(131)	0				soft_tissue(98)|endometrium(33)	131						c.(568-570)ATA>GTA		JAZF zinc finger 1							94.0	82.0	86.0					7																	27872583		2203	4300	6503	SO:0001583	missense	221895				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	g.chr7:27872583T>C	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"""Zinc fingers, C2H2-type"""	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.568A>G	7.37:g.27872583T>C	ENSP00000283928:p.Ile190Val					JAZF1_uc003szm.2_Missense_Mutation_p.I126V	p.I190V	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN			5	809	-			190			C2H2-type 2.		A4D195|Q8N3L7	Missense_Mutation	SNP	ENST00000283928.5	37	c.568A>G	CCDS5416.1	.	.	.	.	.	.	.	.	.	.	T	12.75	2.031969	0.35893	.	.	ENSG00000153814	ENST00000283928;ENST00000430432;ENST00000447620	T;T;T	0.41400	1.0;1.0;1.0	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.042301	0.85682	D	0.000000	T	0.50086	0.1595	L	0.31294	0.92	0.80722	D	1	P	0.38863	0.65	P	0.54140	0.743	T	0.51841	-0.8654	10	0.66056	D	0.02	-16.4773	16.0399	0.80667	0.0:0.0:0.0:1.0	.	190	Q86VZ6	JAZF1_HUMAN	V	190;157;166	ENSP00000283928:I190V;ENSP00000387976:I157V;ENSP00000415096:I166V	ENSP00000283928:I190V	I	-	1	0	JAZF1	27839108	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.525000	0.81892	2.371000	0.80710	0.533000	0.62120	ATA		0.438	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		18	32	0	0	0	0	18	32				
NEUROD6	63974	broad.mit.edu	37	7	31378427	31378427	+	Silent	SNP	G	G	A	rs533417088		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:31378427G>A	ENST00000297142.3	-	2	778	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	152					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	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)	p.I152I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GTCTCTTGCCGATTCTCAGAA	0.458																																						uc003tch.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(454-456)ATC>ATT		neurogenic differentiation 6							72.0	74.0	73.0					7																	31378427		2203	4300	6503	SO:0001819	synonymous_variant	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378427G>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.456C>T	7.37:g.31378427G>A							p.I152I	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	809	-			152					Q548T9|Q9H3H6	Silent	SNP	ENST00000297142.3	37	c.456C>T	CCDS5434.1																																																																																				0.458	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		35	110	0	0	0	0	35	110				
BBS9	27241	broad.mit.edu	37	7	33388738	33388738	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:33388738C>G	ENST00000242067.6	+	13	1909	c.1388C>G	c.(1387-1389)cCa>cGa	p.P463R	BBS9_ENST00000354265.4_Missense_Mutation_p.P463R|BBS9_ENST00000396127.2_Missense_Mutation_p.P463R|BBS9_ENST00000355070.2_Missense_Mutation_p.P463R|BBS9_ENST00000350941.3_Missense_Mutation_p.P463R	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	463					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TACGTGCAACCACCATTAGAA	0.318									Bardet-Biedl syndrome																													uc003tdn.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1387-1389)CCA>CGA		parathyroid hormone-responsive B1 isoform 2							192.0	170.0	177.0					7																	33388738		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33388738C>G		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1388C>G	7.37:g.33388738C>G	ENSP00000242067:p.Pro463Arg					BBS9_uc003tdo.1_Missense_Mutation_p.P463R|BBS9_uc003tdp.1_Missense_Mutation_p.P463R|BBS9_uc003tdq.1_Missense_Mutation_p.P463R|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_5'UTR|BBS9_uc003tds.1_5'Flank|BBS9_uc011kao.1_Missense_Mutation_p.P341R	p.P463R	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		13	1901	+			463					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.1388C>G	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	C	9.368	1.069654	0.20147	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000537775	T;T;T;T;T	0.58652	2.83;0.32;0.33;2.83;2.83	5.41	3.55	0.40652	.	0.411423	0.25683	N	0.028985	T	0.48909	0.1526	L	0.41710	1.295	0.35001	D	0.755986	B;B;B;B	0.17038	0.001;0.001;0.001;0.02	B;B;B;B	0.28849	0.034;0.012;0.015;0.095	T	0.52961	-0.8505	10	0.37606	T	0.19	-3.2176	10.2794	0.43530	0.1619:0.6974:0.1407:0.0	.	463;463;463;463	Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;PTHB1_HUMAN	R	463;463;463;463;463;463;463;341	ENSP00000242067:P463R;ENSP00000313122:P463R;ENSP00000379433:P463R;ENSP00000347182:P463R;ENSP00000346214:P463R	ENSP00000242067:P463R	P	+	2	0	BBS9	33355263	0.145000	0.22656	0.860000	0.33809	0.828000	0.46876	2.047000	0.41269	0.603000	0.29913	0.585000	0.79938	CCA		0.318	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			22	134	0	0	0	0	22	134				
PCLO	27445	broad.mit.edu	37	7	82538228	82538228	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:82538228C>A	ENST00000333891.9	-	8	13739	c.13402G>T	c.(13402-13404)Gtc>Ttc	p.V4468F	PCLO_ENST00000423517.2_Missense_Mutation_p.V4468F	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTAGAGTGGACCAATCTTTCC	0.413																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(13402-13404)GTC>TTC		piccolo isoform 1							127.0	117.0	120.0					7																	82538228		1877	4122	5999	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82538228C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13402G>T	7.37:g.82538228C>A	ENSP00000334319:p.Val4468Phe					PCLO_uc003uhv.2_Missense_Mutation_p.V4468F	p.V4468F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			8	13691	-			4399						Missense_Mutation	SNP	ENST00000333891.9	37	c.13402G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650923	0.29336	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.16743	2.32;2.32	5.04	4.14	0.48551	.	.	.	.	.	T	0.16128	0.0388	L	0.44542	1.39	0.80722	D	1	P;P	0.49090	0.919;0.919	B;B	0.43052	0.406;0.406	T	0.00883	-1.1528	9	0.87932	D	0	.	8.6042	0.33762	0.2477:0.6719:0.0:0.0805	.	4468;4468	Q9Y6V0-5;Q9Y6V0-6	.;.	F	4468	ENSP00000334319:V4468F;ENSP00000388393:V4468F	ENSP00000334319:V4468F	V	-	1	0	PCLO	82376164	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.900000	0.28431	2.512000	0.84698	0.491000	0.48974	GTC		0.413	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		35	120	1	0	4.32e-19	5.53e-19	35	120				
SEMA3A	10371	broad.mit.edu	37	7	83610727	83610727	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:83610727C>G	ENST00000265362.4	-	14	1876	c.1562G>C	c.(1561-1563)gGg>gCg	p.G521A	SEMA3A_ENST00000436949.1_Missense_Mutation_p.G521A	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	521					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ACACGCTTTCCCGTAAATATC	0.483																																						uc003uhz.2		NA																	0				ovary(2)|breast(1)|kidney(1)	4						c.(1561-1563)GGG>GCG		semaphorin 3A precursor							77.0	71.0	73.0					7																	83610727		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83610727C>G	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1562G>C	7.37:g.83610727C>G	ENSP00000265362:p.Gly521Ala						p.G521A	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			14	1877	-			521						Missense_Mutation	SNP	ENST00000265362.4	37	c.1562G>C	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228873	0.95173	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.23348	1.91;1.91	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	M	0.87180	2.865	0.80722	D	1	D	0.59357	0.985	D	0.64144	0.922	T	0.63466	-0.6631	10	0.72032	D	0.01	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	521	Q14563	SEM3A_HUMAN	A	521	ENSP00000265362:G521A;ENSP00000415260:G521A	ENSP00000265362:G521A	G	-	2	0	SEMA3A	83448663	1.000000	0.71417	0.940000	0.37924	0.797000	0.45037	7.770000	0.85390	2.687000	0.91594	0.655000	0.94253	GGG		0.483	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		16	30	0	0	0	0	16	30				
GRM3	2913	broad.mit.edu	37	7	86394654	86394654	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:86394654G>A	ENST00000361669.2	+	2	1292	c.193G>A	c.(193-195)Ggg>Agg	p.G65R	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.G63R|GRM3_ENST00000439827.1_Missense_Mutation_p.G65R	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	65					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGAAGACCGAGGGATTCAACG	0.418																																					GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	0				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(193-195)GGG>AGG		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						151.0	144.0	146.0					7																	86394654		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86394654G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.193G>A	7.37:g.86394654G>A	ENSP00000355316:p.Gly65Arg					GRM3_uc010lef.2_Missense_Mutation_p.G63R|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron	p.G65R	NM_000840	NP_000831	Q14832	GRM3_HUMAN			2	1292	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		65			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.193G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.859331	0.91433	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720;ENST00000421579;ENST00000441140	D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.91264	0.7246	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91974	0.5589	10	0.87932	D	0	.	17.9854	0.89154	0.0:0.0:1.0:0.0	.	65;65	G5E9K2;Q14832	.;GRM3_HUMAN	R	65;65;63;65;65	ENSP00000355316:G65R;ENSP00000398767:G65R;ENSP00000378209:G63R;ENSP00000390037:G65R;ENSP00000407490:G65R	ENSP00000355316:G65R	G	+	1	0	GRM3	86232590	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	9.648000	0.98483	2.732000	0.93576	0.655000	0.94253	GGG		0.418	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			40	142	0	0	0	0	40	142				
DMTF1	9988	broad.mit.edu	37	7	86817562	86817562	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:86817562C>T	ENST00000394703.5	+	15	1919	c.1356C>T	c.(1354-1356)gcC>gcT	p.A452A	DMTF1_ENST00000414194.2_Silent_p.A186A|DMTF1_ENST00000331242.7_Silent_p.A452A|DMTF1_ENST00000413276.2_Intron|DMTF1_ENST00000432937.2_Silent_p.A364A	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	452	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ATAATACAGCCATCTCTTCTA	0.418																																						uc003uih.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1354-1356)GCC>GCT		cyclin D binding myb-like transcription factor 1							177.0	168.0	171.0					7																	86817562		2203	4300	6503	SO:0001819	synonymous_variant	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86817562C>T	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1356C>T	7.37:g.86817562C>T						DMTF1_uc003uii.2_Silent_p.A186A|DMTF1_uc003uij.2_Silent_p.A186A|DMTF1_uc011khb.1_Silent_p.A364A|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Silent_p.A452A|DMTF1_uc003uin.2_Silent_p.A186A	p.A452A	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN			13	1682	+	Esophageal squamous(14;0.0058)		452			Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Silent	SNP	ENST00000394703.5	37	c.1356C>T	CCDS5601.1																																																																																				0.418	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		86	288	0	0	0	0	86	288				
AKAP9	10142	broad.mit.edu	37	7	91631698	91631698	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:91631698G>A	ENST00000359028.2	+	9	2728	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K	AKAP9_ENST00000356239.3_Missense_Mutation_p.E823K|AKAP9_ENST00000358100.2_Missense_Mutation_p.E835K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	835	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAAGAAATAGAAATACTTAT	0.323			T	BRAF	papillary thyroid																																	uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(2467-2469)GAA>AAA		A-kinase anchor protein 9 isoform 2							57.0	64.0	62.0					7																	91631698		2202	4293	6495	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91631698G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2503G>A	7.37:g.91631698G>A	ENSP00000351922:p.Glu835Lys					AKAP9_uc003ule.2_Missense_Mutation_p.E835K|AKAP9_uc003ulf.2_Missense_Mutation_p.E823K|AKAP9_uc003uli.2_Missense_Mutation_p.E448K	p.E823K	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	2692	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		835			Glu-rich.|Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.2467G>A		.	.	.	.	.	.	.	.	.	.	G	9.148	1.015646	0.19355	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.04551	3.61;3.61;3.6	5.77	2.95	0.34219	.	0.529366	0.15855	N	0.241319	T	0.04318	0.0119	N	0.25647	0.755	0.33306	D	0.565411	B;B;B;B	0.16802	0.001;0.001;0.012;0.019	B;B;B;B	0.18871	0.002;0.003;0.011;0.023	T	0.13845	-1.0494	10	0.48119	T	0.1	.	9.2987	0.37831	0.1312:0.1205:0.7482:0.0	.	835;823;823;835	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	K	823;835;835;835;835	ENSP00000348573:E823K;ENSP00000351922:E835K;ENSP00000350813:E835K	ENSP00000348573:E823K	E	+	1	0	AKAP9	91469634	1.000000	0.71417	0.962000	0.40283	0.964000	0.63967	2.968000	0.49224	0.430000	0.26230	-0.140000	0.14226	GAA		0.323	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		46	137	0	0	0	0	46	137				
VGF	7425	broad.mit.edu	37	7	100806374	100806374	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:100806374C>G	ENST00000249330.2	-	2	1990	c.1751G>C	c.(1750-1752)cGg>cCg	p.R584P	VGF_ENST00000445482.2_Missense_Mutation_p.R584P	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	584					defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					CTGCGCGCGCCGCGCCTGGGC	0.746																																						uc003uxx.3		NA																	0					0						c.(1750-1752)CGG>CCG		VGF nerve growth factor inducible precursor							10.0	14.0	13.0					7																	100806374		2161	4205	6366	SO:0001583	missense	7425				response to cAMP	extracellular space|transport vesicle	growth factor activity	g.chr7:100806374C>G	Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"""neuro-endocrine specific protein VGF"""	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.1751G>C	7.37:g.100806374C>G	ENSP00000249330:p.Arg584Pro						p.R584P	NM_003378	NP_003369	O15240	VGF_HUMAN			2	1969	-	Lung NSC(181;0.168)|all_lung(186;0.215)		584					Q9UDW8	Missense_Mutation	SNP	ENST00000249330.2	37	c.1751G>C	CCDS5712.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008010	0.35415	.	.	ENSG00000128564	ENST00000249330;ENST00000445482	.	.	.	3.83	2.02	0.26589	.	0.000000	0.31381	U	0.007743	T	0.21387	0.0515	N	0.19112	0.55	0.29741	N	0.837095	P	0.40794	0.729	B	0.39706	0.307	T	0.11324	-1.0592	9	0.72032	D	0.01	-6.1083	6.0125	0.19584	0.0:0.7582:0.0:0.2418	.	584	O15240	VGF_HUMAN	P	584	.	ENSP00000249330:R584P	R	-	2	0	VGF	100593094	0.981000	0.34729	0.997000	0.53966	0.854000	0.48673	0.249000	0.18216	0.313000	0.23062	0.484000	0.47621	CGG		0.746	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347462.1	NM_003378		7	35	0	0	0	0	7	35				
FBXL13	222235	broad.mit.edu	37	7	102553619	102553619	+	Missense_Mutation	SNP	G	G	A	rs370558905		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:102553619G>A	ENST00000313221.4	-	11	1348	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	FBXL13_ENST00000436908.1_Missense_Mutation_p.R308W|FBXL13_ENST00000379308.3_Missense_Mutation_p.R308W|FBXL13_ENST00000379306.3_Missense_Mutation_p.R308W|FBXL13_ENST00000379305.3_Missense_Mutation_p.R308W|LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.R308W|LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000456695.1_Missense_Mutation_p.R308W|FBXL13_ENST00000393772.2_Missense_Mutation_p.R308W	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	308										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCTGTGAACCGTCTGCAATAA	0.438																																						uc003vaq.2		NA																	0					0						c.(922-924)CGG>TGG		F-box and leucine-rich repeat protein 13 isoform							142.0	129.0	133.0					7																	102553619		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102553619G>A	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.922C>T	7.37:g.102553619G>A	ENSP00000321927:p.Arg308Trp					FBXL13_uc010liq.1_Missense_Mutation_p.R123W|FBXL13_uc010lir.1_Missense_Mutation_p.R308W|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.R308W|LRRC17_uc003vat.2_Intron|LRRC17_uc003vau.2_Intron	p.R308W	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			11	1349	-			308			LRR 4.		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.922C>T	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299451	0.60195	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.03553	4.25;4.25;3.89;4.25;4.25;4.25;3.89;4.25	5.43	3.03	0.35002	.	0.275088	0.33515	N	0.004832	T	0.12646	0.0307	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.71674	0.987;0.998;0.986;0.994	P;P;P;P	0.61397	0.663;0.888;0.599;0.846	T	0.00338	-1.1806	10	0.72032	D	0.01	.	8.5842	0.33649	0.0:0.0676:0.1313:0.801	.	308;308;308;308	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	W	308	ENSP00000377367:R308W;ENSP00000368610:R308W;ENSP00000368608:R308W;ENSP00000368607:R308W;ENSP00000388608:R308W;ENSP00000321927:R308W;ENSP00000409716:R308W;ENSP00000391550:R308W	ENSP00000321927:R308W	R	-	1	2	FBXL13	102340855	1.000000	0.71417	0.998000	0.56505	0.784000	0.44337	2.916000	0.48813	0.494000	0.27859	-1.152000	0.01820	CGG		0.438	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		19	102	0	0	0	0	19	102				
RELN	5649	broad.mit.edu	37	7	103126772	103126772	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:103126772G>T	ENST00000428762.1	-	61	10014	c.9855C>A	c.(9853-9855)acC>acA	p.T3285T	RELN_ENST00000343529.5_Silent_p.T3285T|RELN_ENST00000424685.2_Silent_p.T3285T|RN7SKP86_ENST00000410454.1_RNA|RELN_ENST00000473945.1_5'Flank|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3285					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACCTTGAATGGTCTCCCAGT	0.502																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(9853-9855)ACC>ACA		reelin isoform a							100.0	97.0	98.0					7																	103126772		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103126772G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9855C>A	7.37:g.103126772G>T						RELN_uc010liz.2_Silent_p.T3285T	p.T3285T	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	61	10015	-			3285					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.9855C>A	CCDS47680.1																																																																																				0.502	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		42	136	1	0	1.23e-26	1.62e-26	42	136				
RELN	5649	broad.mit.edu	37	7	103180756	103180756	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:103180756C>T	ENST00000428762.1	-	44	6977	c.6818G>A	c.(6817-6819)gGc>gAc	p.G2273D	RELN_ENST00000424685.2_Missense_Mutation_p.G2273D|RELN_ENST00000343529.5_Missense_Mutation_p.G2273D	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2273					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATGTACCTGCCCACATTGCT	0.552																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(6817-6819)GGC>GAC		reelin isoform a							102.0	97.0	98.0					7																	103180756		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103180756C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6818G>A	7.37:g.103180756C>T	ENSP00000392423:p.Gly2273Asp					RELN_uc010liz.2_Missense_Mutation_p.G2273D	p.G2273D	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	44	6978	-			2273					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6818G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040582	0.75732	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24151	1.87;1.87;1.87	5.44	5.44	0.79542	Neuraminidase (1);	0.058422	0.64402	D	0.000002	T	0.38983	0.1061	N	0.22421	0.69	0.53005	D	0.999969	D;D	0.71674	0.998;0.993	D;D	0.66716	0.917;0.946	T	0.26189	-1.0110	10	0.66056	D	0.02	.	19.6264	0.95679	0.0:1.0:0.0:0.0	.	2273;2273	P78509-2;P78509	.;RELN_HUMAN	D	2273	ENSP00000392423:G2273D;ENSP00000345694:G2273D;ENSP00000388446:G2273D	ENSP00000345694:G2273D	G	-	2	0	RELN	102967992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.659000	0.68010	2.717000	0.92951	0.655000	0.94253	GGC		0.552	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		37	115	0	0	0	0	37	115				
EXOC4	60412	broad.mit.edu	37	7	133749194	133749194	+	Missense_Mutation	SNP	C	C	A	rs200117281		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:133749194C>A	ENST00000253861.4	+	18	2867	c.2838C>A	c.(2836-2838)aaC>aaA	p.N946K	EXOC4_ENST00000541309.1_Missense_Mutation_p.N234K|EXOC4_ENST00000545148.1_Missense_Mutation_p.N556K|EXOC4_ENST00000539845.1_Missense_Mutation_p.N845K	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	946					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CCACCCAGAACACGAGGCTGC	0.582																																						uc003vrk.2		NA																	0				ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(2836-2838)AAC>AAA		SEC8 protein isoform a							69.0	63.0	65.0					7																	133749194		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133749194C>A	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2838C>A	7.37:g.133749194C>A	ENSP00000253861:p.Asn946Lys					EXOC4_uc011kpo.1_Missense_Mutation_p.N845K|EXOC4_uc003vrl.2_Missense_Mutation_p.N556K|EXOC4_uc011kpp.1_Missense_Mutation_p.N478K|EXOC4_uc011kpq.1_Missense_Mutation_p.N234K	p.N946K	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			18	2873	+		Esophageal squamous(399;0.129)	946					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.2838C>A	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	C	2.432	-0.330687	0.05314	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.11	4.24	0.50183	.	0.052137	0.85682	D	0.000000	T	0.29716	0.0742	N	0.14661	0.345	0.54753	D	0.999989	B;B;P	0.37781	0.01;0.068;0.608	B;B;B	0.32980	0.008;0.041;0.156	T	0.14254	-1.0479	9	0.06891	T	0.86	.	13.6759	0.62454	0.0:0.9261:0.0:0.0739	.	478;556;946	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	K	946;565;845;556;234	.	ENSP00000253861:N946K	N	+	3	2	EXOC4	133399734	1.000000	0.71417	0.991000	0.47740	0.099000	0.18886	3.636000	0.54317	1.380000	0.46344	-0.142000	0.14014	AAC		0.582	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		23	96	1	0	0.00047179	0.000503661	23	96				
C7orf55	154791	broad.mit.edu	37	7	139030441	139030441	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:139030441G>A	ENST00000297534.6	+	2	586	c.333G>A	c.(331-333)tgG>tgA	p.W111*	C7orf55-LUC7L2_ENST00000541170.3_Intron|LUC7L2_ENST00000541515.3_Intron|C7orf55_ENST00000481123.1_3'UTR	NM_197964.4	NP_932068.2	Q96HJ9	CG055_HUMAN	chromosome 7 open reading frame 55	111						mitochondrion (GO:0005739)				breast(1)|lung(2)	3						GGAAGGGCTGGGAGCCATGAA	0.438																																						uc003vuw.3		NA																	0					0						c.(331-333)TGG>TGA		formation of mitochondrial complexes 1 homolog							47.0	45.0	46.0					7																	139030441		2203	4300	6503	SO:0001587	stop_gained	154791							g.chr7:139030441G>A	AF161386	CCDS5853.1	7q34	2009-01-22	2009-01-22	2009-01-22	ENSG00000164898	ENSG00000164898			26946	protein-coding gene	gene with protein product	"""formation of mitochondrial complexes 1 homolog (S. cerevisiae)"""					12477932	Standard	NM_197964		Approved	HSPC268, FMC1		Q96HJ9	OTTHUMG00000151719	ENST00000297534.6:c.333G>A	7.37:g.139030441G>A	ENSP00000297534:p.Trp111*					LUC7L2_uc011kqs.1_Intron|LUC7L2_uc011kqt.1_Intron	p.W111*	NM_197964	NP_932068	Q96HJ9	CG055_HUMAN			2	567	+			111					B7Z4Q3|Q75M90|Q9P0B3	Nonsense_Mutation	SNP	ENST00000297534.6	37	c.333G>A	CCDS5853.1	.	.	.	.	.	.	.	.	.	.	G	34	5.340397	0.95783	.	.	ENSG00000164898	ENST00000297534	.	.	.	5.63	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.32473	N	0.542557	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.158	11.1001	0.48168	0.1598:0.0:0.8402:0.0	.	.	.	.	X	111	.	ENSP00000297534:W111X	W	+	3	0	C7orf55	138680981	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.208000	0.65203	1.374000	0.46228	0.563000	0.77884	TGG		0.438	C7orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323626.1	NM_197964		7	56	0	0	0	0	7	56				
MGAM	8972	broad.mit.edu	37	7	141754696	141754696	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:141754696C>A	ENST00000549489.2	+	27	3397	c.3302C>A	c.(3301-3303)aCa>aAa	p.T1101K	MGAM_ENST00000475668.2_Missense_Mutation_p.T1101K	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1101	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CGGAAGAGTACAGGCACTATA	0.488																																						uc003vwy.2		NA																	0				ovary(2)	2						c.(3301-3303)ACA>AAA		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						59.0	57.0	57.0					7																	141754696		1858	4088	5946	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141754696C>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3302C>A	7.37:g.141754696C>A	ENSP00000447378:p.Thr1101Lys						p.T1101K	NM_004668	NP_004659	O43451	MGA_HUMAN			27	3356	+	Melanoma(164;0.0272)		1101			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.3302C>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324943	0.41197	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	T	0.28069	1.63	4.24	4.24	0.50183	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.36482	N	0.002580	T	0.59676	0.2211	H	0.95079	3.62	0.36019	D	0.838626	D	0.63880	0.993	P	0.56751	0.805	T	0.77523	-0.2556	10	0.72032	D	0.01	.	11.4531	0.50164	0.0:0.8166:0.1834:0.0	.	1101	O43451	MGA_HUMAN	K	1101;1101;978	ENSP00000447378:T1101K	ENSP00000316431:T978K	T	+	2	0	MGAM	141401165	1.000000	0.71417	0.725000	0.30721	0.039000	0.13416	5.319000	0.65835	1.890000	0.54733	0.460000	0.39030	ACA		0.488	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			29	96	1	0	2.42e-17	3.07e-17	29	96				
TAS2R39	259285	broad.mit.edu	37	7	142880918	142880918	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:142880918T>A	ENST00000446620.1	+	1	407	c.407T>A	c.(406-408)tTt>tAt	p.F136Y		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	136					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TTCTTCTACTTTGTGAAGATT	0.388																																						uc011ksw.1		NA																	0				skin(1)	1						c.(406-408)TTT>TAT		taste receptor, type 2, member 39							102.0	92.0	95.0					7																	142880918		1855	4093	5948	SO:0001583	missense	259285				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142880918T>A	AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.407T>A	7.37:g.142880918T>A	ENSP00000405095:p.Phe136Tyr						p.F136Y	NM_176881	NP_795362	P59534	T2R39_HUMAN			1	407	+	Melanoma(164;0.059)		136			Helical; Name=3; (Potential).		A4FUI7|Q3ZCN6|Q645W4	Missense_Mutation	SNP	ENST00000446620.1	37	c.407T>A	CCDS47729.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.436727	0.43224	.	.	ENSG00000236398	ENST00000446620	T	0.23754	1.89	4.76	3.57	0.40892	.	.	.	.	.	T	0.47135	0.1429	M	0.73430	2.235	0.26484	N	0.975054	D	0.71674	0.998	D	0.69142	0.962	T	0.28839	-1.0031	9	0.39692	T	0.17	.	10.66	0.45696	0.0:0.0:0.467:0.533	.	136	P59534	T2R39_HUMAN	Y	136	ENSP00000405095:F136Y	ENSP00000405095:F136Y	F	+	2	0	TAS2R39	142591040	0.989000	0.36119	0.999000	0.59377	0.990000	0.78478	1.093000	0.30939	0.916000	0.36871	0.528000	0.53228	TTT		0.388	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327090.2	NM_176881		63	195	0	0	0	0	63	195				
FAM115A	9747	broad.mit.edu	37	7	143573297	143573297	+	Silent	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:143573297T>C	ENST00000479870.1	-	2	613	c.405A>G	c.(403-405)acA>acG	p.T135T	FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Silent_p.T135T	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	135										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					CCAGCTTTTCTGTCATGGTTT	0.507																																						uc003wdo.1		NA																	0					0						c.(403-405)ACA>ACG		hypothetical protein LOC9747							88.0	91.0	90.0					7																	143573297		2203	4300	6503	SO:0001819	synonymous_variant	9747							g.chr7:143573297T>C	AB018281	CCDS5886.1, CCDS56514.1	7q35	2011-05-03	2006-03-23	2006-03-23	ENSG00000198420	ENSG00000198420			22201	protein-coding gene	gene with protein product						9872452	Standard	NM_014719		Approved	KIAA0738	uc003wdo.2	Q9Y4C2	OTTHUMG00000157773	ENST00000479870.1:c.405A>G	7.37:g.143573297T>C						FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Silent_p.T135T	p.T135T	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN			2	538	-	Melanoma(164;0.0903)		135					A8K6E0|Q75KM8|Q75KM9|Q7L665|Q9BW63	Silent	SNP	ENST00000479870.1	37	c.405A>G	CCDS5886.1																																																																																				0.507	FAM115A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349583.1	NM_014719		62	128	0	0	0	0	62	128				
NOBOX	135935	broad.mit.edu	37	7	144096938	144096938	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:144096938G>T	ENST00000467773.1	-	6	1065	c.1066C>A	c.(1066-1068)Cgg>Agg	p.R356R	NOBOX_ENST00000483238.1_Silent_p.R324R|NOBOX_ENST00000223140.5_Silent_p.R239R	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	356					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|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)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CACTTGGCCCGGCGATTCTGG	0.537																																						uc011kue.1		NA																	0				ovary(1)	1						c.(1066-1068)CGG>AGG		NOBOX oogenesis homeobox							74.0	78.0	76.0					7																	144096938		1954	4148	6102	SO:0001819	synonymous_variant	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144096938G>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.1066C>A	7.37:g.144096938G>T							p.R356R	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			6	1066	-	Melanoma(164;0.14)		356			Homeobox.		A6NCD3|A8MZN5	Silent	SNP	ENST00000467773.1	37	c.1066C>A																																																																																					0.537	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		14	33	1	0	2.32e-05	2.57e-05	14	33				
KMT2C	58508	broad.mit.edu	37	7	151970897	151970897	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:151970897C>T	ENST00000262189.6	-	7	1123	c.905G>A	c.(904-906)tGt>tAt	p.C302Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.C302Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	302					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.C302F(2)									CATCTGGGTACATTTCTCTTC	0.433																																						uc003wla.2		NA								N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(904-906)TGT>TAT		myeloid/lymphoid or mixed-lineage leukemia 3							141.0	134.0	136.0					7																	151970897		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151970897C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.905G>A	7.37:g.151970897C>T	ENSP00000262189:p.Cys302Tyr						p.C302Y	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	7	1124	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	302					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.905G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439542	0.63067	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.94376	-3.41;-3.41	4.87	4.87	0.63330	Zinc finger, PHD-type (1);	0.000000	0.48767	D	0.000162	D	0.97907	0.9312	H	0.96430	3.82	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99379	1.0922	10	0.87932	D	0	.	18.3752	0.90433	0.0:1.0:0.0:0.0	.	302	Q8NEZ4	MLL3_HUMAN	Y	302	ENSP00000262189:C302Y;ENSP00000347325:C302Y	ENSP00000262189:C302Y	C	-	2	0	MLL3	151601830	1.000000	0.71417	0.969000	0.41365	0.999000	0.98932	7.752000	0.85141	2.423000	0.82170	0.650000	0.86243	TGT		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			8	330	0	0	0	0	8	330				
SGK223	157285	broad.mit.edu	37	8	8235565	8235565	+	Silent	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:8235565G>C	ENST00000520004.1	-	3	618	c.354C>G	c.(352-354)ggC>ggG	p.G118G	SGK223_ENST00000330777.4_Silent_p.G118G			Q86YV5	SG223_HUMAN		118							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGGGGAGCTTGCCAGGGGCTC	0.547																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.3		NA																	0					0						c.(352-354)GGC>GGG		pragmin							46.0	48.0	47.0					8																	8235565		1916	4108	6024	SO:0001819	synonymous_variant	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8235565G>C																												ENST00000520004.1:c.354C>G	8.37:g.8235565G>C							p.G118G	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			2	354	-			118					Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.354C>G	CCDS43706.1																																																																																				0.547	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			39	145	0	0	0	0	39	145				
PPP1R3B	79660	broad.mit.edu	37	8	8998511	8998511	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:8998511A>T	ENST00000310455.3	-	2	801	c.651T>A	c.(649-651)aaT>aaA	p.N217K	RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA|PPP1R3B_ENST00000519699.1_Missense_Mutation_p.N217K	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	217	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ACGTCTGTCCATTGCACTCGT	0.507																																						uc003wsn.3		NA																	0				ovary(1)|skin(1)	2						c.(649-651)AAT>AAA		protein phosphatase 1, regulatory (inhibitor)							203.0	176.0	185.0					8																	8998511		2203	4300	6503	SO:0001583	missense	79660				glycogen metabolic process			g.chr8:8998511A>T	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.651T>A	8.37:g.8998511A>T	ENSP00000308318:p.Asn217Lys					PPP1R3B_uc003wso.3_Missense_Mutation_p.N216K	p.N217K	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	816	-			217			CBM21.		B3KTV3|Q9H812	Missense_Mutation	SNP	ENST00000310455.3	37	c.651T>A	CCDS5973.1	.	.	.	.	.	.	.	.	.	.	A	9.979	1.227707	0.22542	.	.	ENSG00000173281	ENST00000310455;ENST00000519699	T;T	0.64438	-0.1;-0.1	5.87	-9.71	0.00518	Putative phosphatase regulatory subunit (2);	0.880818	0.10473	N	0.670600	T	0.50188	0.1601	M	0.69823	2.125	0.40093	D	0.976278	B	0.20052	0.041	B	0.20384	0.029	T	0.18999	-1.0319	10	0.17832	T	0.49	-7.6112	10.1119	0.42568	0.2671:0.0806:0.5729:0.0794	.	217	Q86XI6	PPR3B_HUMAN	K	217	ENSP00000308318:N217K;ENSP00000428642:N217K	ENSP00000308318:N217K	N	-	3	2	PPP1R3B	9035921	0.000000	0.05858	0.001000	0.08648	0.502000	0.33828	-2.988000	0.00659	-1.614000	0.01575	-0.441000	0.05720	AAT		0.507	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		45	124	0	0	0	0	45	124				
FDFT1	2222	broad.mit.edu	37	8	11666366	11666366	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:11666366G>A	ENST00000220584.4	+	2	385	c.163G>A	c.(163-165)Gca>Aca	p.A55T	FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000443614.2_Missense_Mutation_p.A55T|FDFT1_ENST00000528812.1_5'UTR|FDFT1_ENST00000528643.1_5'Flank|FDFT1_ENST00000538689.1_5'UTR|FDFT1_ENST00000525900.1_Missense_Mutation_p.A48T|FDFT1_ENST00000525777.1_5'Flank|FDFT1_ENST00000530664.1_5'UTR	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	55					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		TCGCAGTTTCGCAGCTGTTAT	0.572																																						uc003wui.2		NA																	0					0						c.(163-165)GCA>ACA		squalene synthase							75.0	64.0	68.0					8																	11666366		2203	4300	6503	SO:0001583	missense	2222				cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	g.chr8:11666366G>A	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.163G>A	8.37:g.11666366G>A	ENSP00000220584:p.Ala55Thr					FDFT1_uc003wuh.2_5'UTR|FDFT1_uc010lsa.1_Intron|FDFT1_uc011kxe.1_5'UTR|FDFT1_uc011kxf.1_Missense_Mutation_p.A55T|FDFT1_uc011kxg.1_Intron|FDFT1_uc003wuj.2_Missense_Mutation_p.A48T|FDFT1_uc010lsb.2_5'UTR|FDFT1_uc011kxh.1_5'UTR|FDFT1_uc011kxi.1_RNA|FDFT1_uc011kxj.1_5'UTR|FDFT1_uc003wuk.2_Missense_Mutation_p.A114T|FDFT1_uc011kxk.1_5'Flank	p.A55T	NM_004462	NP_004453	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)	2	315	+	all_epithelial(15;0.234)		55					B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	ENST00000220584.4	37	c.163G>A	CCDS5985.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019672	0.75275	.	.	ENSG00000079459	ENST00000530337;ENST00000220584;ENST00000443614;ENST00000525900	D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68	4.73	2.88	0.33553	Terpenoid synthase (2);	0.119719	0.56097	N	0.000026	D	0.88016	0.6324	M	0.94021	3.485	0.80722	D	1	P;D;P;P	0.61697	0.702;0.99;0.791;0.791	B;P;B;B	0.49226	0.185;0.603;0.114;0.114	D	0.87582	0.2485	10	0.87932	D	0	-4.0627	8.2157	0.31509	0.0822:0.0:0.7612:0.1566	.	55;112;48;55	B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;FDFT_HUMAN	T	55;55;55;48	ENSP00000431852:A55T;ENSP00000220584:A55T;ENSP00000390367:A55T;ENSP00000434714:A48T	ENSP00000220584:A55T	A	+	1	0	FDFT1	11703775	1.000000	0.71417	0.973000	0.42090	0.988000	0.76386	7.181000	0.77682	0.564000	0.29238	0.555000	0.69702	GCA		0.572	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2			16	20	0	0	0	0	16	20				
NEFM	4741	broad.mit.edu	37	8	24771549	24771549	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:24771549G>T	ENST00000221166.5	+	1	1025	c.243G>T	c.(241-243)tcG>tcT	p.S81S	NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Silent_p.S81S|NEFM_ENST00000518131.1_Silent_p.S81S|NEFM_ENST00000433454.2_5'Flank|RP11-624C23.1_ENST00000519689.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	81	Head.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCCAGTCCTCGTCCCTGCTCA	0.662																																						uc003xed.3		NA																	0				breast(1)	1						c.(241-243)TCG>TCT		neurofilament, medium polypeptide 150kDa isoform							29.0	32.0	31.0					8																	24771549		2143	4228	6371	SO:0001819	synonymous_variant	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24771549G>T	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.243G>T	8.37:g.24771549G>T						NEFM_uc011lac.1_Silent_p.S81S|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	p.S81S	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	276	+		Prostate(55;0.157)	81			Head.		B4DGN2|E9PBF7|Q4QRK6	Silent	SNP	ENST00000221166.5	37	c.243G>T	CCDS6046.1																																																																																				0.662	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		11	27	1	0	2.5e-24	3.27e-24	11	27				
PURG	29942	broad.mit.edu	37	8	30889548	30889548	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:30889548G>A	ENST00000475541.1	-	1	1683	c.751C>T	c.(751-753)Cga>Tga	p.R251*	PURG_ENST00000339382.2_Nonsense_Mutation_p.R251*|WRN_ENST00000298139.5_5'Flank	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	251						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CCACCTCTTCGTTCTTCTATG	0.458																																						uc003xin.2		NA																	0					0						c.(751-753)CGA>TGA		purine-rich element binding protein G isoform A							115.0	94.0	101.0					8																	30889548		2203	4300	6503	SO:0001587	stop_gained	29942					nucleus	DNA binding	g.chr8:30889548G>A	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.751C>T	8.37:g.30889548G>A	ENSP00000418721:p.Arg251*					WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Nonsense_Mutation_p.R251*	p.R251*	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)	1	770	-			251			By similarity.		Q8TE64	Nonsense_Mutation	SNP	ENST00000475541.1	37	c.751C>T	CCDS6081.1	.	.	.	.	.	.	.	.	.	.	G	44	10.669588	0.99447	.	.	ENSG00000172733	ENST00000339382;ENST00000475541	.	.	.	5.26	3.4	0.38934	.	0.451232	0.19309	N	0.117457	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-5.041	9.3922	0.38381	0.0:0.1324:0.4615:0.4061	.	.	.	.	X	251	.	ENSP00000345168:R251X	R	-	1	2	PURG	31009090	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	2.664000	0.46783	0.547000	0.28938	0.655000	0.94253	CGA		0.458	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357		43	112	0	0	0	0	43	112				
PXDNL	137902	broad.mit.edu	37	8	52336292	52336292	+	Splice_Site	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:52336292C>G	ENST00000356297.4	-	14	1739		c.e14-1		PXDNL_ENST00000543296.1_Splice_Site	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like						hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCACACCTTCCTAGGGAGCAA	0.393																																						uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.e14-1		peroxidasin homolog-like precursor							83.0	87.0	86.0					8																	52336292		2130	4250	6380	SO:0001630	splice_region_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52336292C>G		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1639-1G>C	8.37:g.52336292C>G							p.E547_splice	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			14	1740	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)						B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Splice_Site	SNP	ENST00000356297.4	37	c.1639_splice	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241812	0.22711	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	.	.	.	4.18	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3517	0.55153	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PXDNL	52498845	1.000000	0.71417	0.500000	0.27589	0.037000	0.13140	5.857000	0.69525	2.011000	0.59026	0.650000	0.86243	.		0.393	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	Intron	9	48	0	0	0	0	9	48				
YTHDF3	253943	broad.mit.edu	37	8	64098988	64098988	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:64098988G>A	ENST00000539294.1	+	4	732	c.416G>A	c.(415-417)gGa>gAa	p.G139E	YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000542911.2_5'UTR|YTHDF3_ENST00000521674.1_3'UTR	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	140				S -> R (in Ref. 2; CAH56224). {ECO:0000305}.			N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			GGGACAAGTGGATCTCAGGGA	0.433																																						uc003xuy.2		NA																	0					0						c.(418-420)GGA>GAA		YTH domain family, member 3							80.0	75.0	77.0					8																	64098988		1895	4131	6026	SO:0001583	missense	253943							g.chr8:64098988G>A	BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.416G>A	8.37:g.64098988G>A	ENSP00000473496:p.Gly139Glu					YTHDF3_uc010lys.2_Missense_Mutation_p.G84E|YTHDF3_uc003xuz.2_Missense_Mutation_p.G84E|YTHDF3_uc003xva.2_Missense_Mutation_p.G84E|YTHDF3_uc011len.1_Missense_Mutation_p.G84E	p.G140E	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		5	735	+	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	140					B3KXL4|Q63Z37|Q659A3	Missense_Mutation	SNP	ENST00000539294.1	37	c.419G>A																																																																																					0.433	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152758		18	64	0	0	0	0	18	64				
ARFGEF1	10565	broad.mit.edu	37	8	68123821	68123821	+	Silent	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:68123821A>G	ENST00000262215.3	-	34	5105	c.4716T>C	c.(4714-4716)atT>atC	p.I1572I	ARFGEF1_ENST00000520381.1_Silent_p.I1026I|ARFGEF1_ENST00000518230.1_Silent_p.I410I	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1572					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TAGAATCATGAATATCTACAG	0.323																																						uc003xxo.1		NA																	0		p.I1572V(1)		ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(4714-4716)ATT>ATC		brefeldin A-inhibited guanine							43.0	44.0	44.0					8																	68123821		2203	4300	6503	SO:0001819	synonymous_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68123821A>G	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4716T>C	8.37:g.68123821A>G						ARFGEF1_uc003xxl.1_Silent_p.I1026I|ARFGEF1_uc003xxn.1_Silent_p.I549I	p.I1572I	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		34	5106	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1572					Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	ENST00000262215.3	37	c.4716T>C	CCDS6199.1																																																																																				0.323	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		35	65	0	0	0	0	35	65				
NECAB1	64168	broad.mit.edu	37	8	91937823	91937823	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:91937823C>T	ENST00000417640.2	+	7	892	c.555C>T	c.(553-555)cgC>cgT	p.R185R		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	185						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GATCAAGCCGCCGAGTCCAGA	0.458																																						uc011lgg.1		NA																	0				central_nervous_system(1)	1						c.(553-555)CGC>CGT		N-terminal EF-hand calcium binding protein 1							63.0	72.0	69.0					8																	91937823		2006	4163	6169	SO:0001819	synonymous_variant	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91937823C>T	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.555C>T	8.37:g.91937823C>T							p.R185R	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		7	749	+			185					Q6NUS7|Q96AZ7|Q9HBW8	Silent	SNP	ENST00000417640.2	37	c.555C>T	CCDS47889.1																																																																																				0.458	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		13	25	0	0	0	0	13	25				
RUNX1T1	862	broad.mit.edu	37	8	93023240	93023240	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:93023240G>A	ENST00000523629.1	-	5	1002	c.548C>T	c.(547-549)cCa>cTa	p.P183L	RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P146L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P194L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P156L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P146L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P183L|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.P146L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P156L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P146L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	183	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P183R(1)|p.P146R(1)|p.P194R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTTCAAAAATGGGATGACAAA	0.363																																						uc003yfd.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(547-549)CCA>CTA		acute myelogenous leukemia 1 translocation 1							140.0	134.0	136.0					8																	93023240		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93023240G>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.548C>T	8.37:g.93023240G>A	ENSP00000428543:p.Pro183Leu					RUNX1T1_uc003yfc.1_Missense_Mutation_p.P156L|RUNX1T1_uc003yfe.1_Missense_Mutation_p.P146L|RUNX1T1_uc010mao.2_Missense_Mutation_p.P156L|RUNX1T1_uc011lgi.1_Missense_Mutation_p.P194L|RUNX1T1_uc003yfh.1_Missense_Mutation_p.P146L|RUNX1T1_uc003yfb.1_Missense_Mutation_p.P146L|RUNX1T1_uc003yff.1_Missense_Mutation_p.P146L|RUNX1T1_uc003yfg.1_Missense_Mutation_p.P146L	p.P183L	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		4	632	-			183			TAFH.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.548C>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372497	0.95923	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054	T;T;T;T;T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11	5.87	5.87	0.94306	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.79441	0.4446	M	0.81802	2.56	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;1.0;1.0;1.0	T	0.80137	-0.1508	10	0.87932	D	0	-11.0118	20.5827	0.99408	0.0:0.0:1.0:0.0	.	194;194;156;183;156	E7EPN4;B7Z4P4;B2R6I9;Q06455;Q06455-2	.;.;.;MTG8_HUMAN;.	L	183;156;183;146;146;146;194;156;146;183;146	ENSP00000428543:P183L;ENSP00000379520:P156L;ENSP00000265814:P183L;ENSP00000353504:P146L;ENSP00000390137:P146L;ENSP00000428742:P146L;ENSP00000402257:P194L;ENSP00000430728:P156L;ENSP00000429728:P146L;ENSP00000431094:P183L;ENSP00000427763:P146L	ENSP00000265814:P183L	P	-	2	0	RUNX1T1	93092416	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	CCA		0.363	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		40	132	0	0	0	0	40	132				
CSMD3	114788	broad.mit.edu	37	8	113395840	113395840	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:113395840T>C	ENST00000297405.5	-	37	6231	c.5987A>G	c.(5986-5988)tAt>tGt	p.Y1996C	CSMD3_ENST00000343508.3_Missense_Mutation_p.Y1956C|CSMD3_ENST00000352409.3_Missense_Mutation_p.Y1926C|CSMD3_ENST00000455883.2_Missense_Mutation_p.Y1892C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1996	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCCCCATCATAAAAGTCCAG	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(5986-5988)TAT>TGT		CUB and Sushi multiple domains 3 isoform 1							81.0	80.0	80.0					8																	113395840		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113395840T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5987A>G	8.37:g.113395840T>C	ENSP00000297405:p.Tyr1996Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.Y1198C|CSMD3_uc003ynt.2_Missense_Mutation_p.Y1956C|CSMD3_uc011lhx.1_Missense_Mutation_p.Y1892C	p.Y1996C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			37	6146	-			1996			Extracellular (Potential).|CUB 11.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5987A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.941647	0.73557	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	4.42	4.42	0.53409	CUB (5);	0.173121	0.39834	N	0.001246	T	0.59252	0.2180	M	0.77712	2.385	0.58432	D	0.999993	D;D;D	0.89917	0.998;0.967;1.0	D;D;D	0.76071	0.917;0.926;0.987	T	0.60979	-0.7155	10	0.38643	T	0.18	.	14.1168	0.65159	0.0:0.0:0.0:1.0	.	1892;1996;1956	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	1956;1996;1266;1892;1926	ENSP00000345799:Y1956C;ENSP00000297405:Y1996C;ENSP00000341558:Y1266C;ENSP00000412263:Y1892C;ENSP00000343124:Y1926C	ENSP00000297405:Y1996C	Y	-	2	0	CSMD3	113465016	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.839000	0.62810	1.975000	0.57531	0.383000	0.25322	TAT		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		42	99	0	0	0	0	42	99				
HAS2	3037	broad.mit.edu	37	8	122626624	122626624	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:122626624C>T	ENST00000303924.4	-	4	1921	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	462					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GTGCCCCACCCAGCTTTGTTT	0.413																																						uc003yph.2		NA																HAS2/PLAG1(10)	0				soft_tissue(10)|ovary(5)	15						c.(1384-1386)GGG>AGG		hyaluronan synthase 2							129.0	128.0	128.0					8																	122626624		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122626624C>T	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1384G>A	8.37:g.122626624C>T	ENSP00000306991:p.Gly462Arg						p.G462R	NM_005328	NP_005319	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	1922	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		462			Extracellular (Potential).		Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.1384G>A	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.136095	0.77662	.	.	ENSG00000170961	ENST00000303924	T	0.51817	0.69	6.17	6.17	0.99709	.	0.045343	0.85682	D	0.000000	T	0.70762	0.3261	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.69672	-0.5082	10	0.66056	D	0.02	-14.8344	20.8794	0.99867	0.0:1.0:0.0:0.0	.	462	Q92819	HAS2_HUMAN	R	462	ENSP00000306991:G462R	ENSP00000306991:G462R	G	-	1	0	HAS2	122695805	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.080000	0.71299	2.941000	0.99782	0.655000	0.94253	GGG		0.413	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		135	281	0	0	0	0	135	281				
FER1L6	654463	broad.mit.edu	37	8	125052147	125052147	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:125052147C>T	ENST00000522917.1	+	20	2695	c.2489C>T	c.(2488-2490)gCt>gTt	p.A830V	FER1L6-AS1_ENST00000518567.1_RNA|RP11-959I15.4_ENST00000522005.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.A830V	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	830	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CAGCTGAGGGCTCACATGTAC	0.507																																						uc003yqw.2		NA																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(2488-2490)GCT>GTT		fer-1-like 6							111.0	119.0	116.0					8																	125052147		2034	4197	6231	SO:0001583	missense	654463					integral to membrane		g.chr8:125052147C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2489C>T	8.37:g.125052147C>T	ENSP00000428280:p.Ala830Val					uc003yqx.1_Intron	p.A830V	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		20	2695	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		830			Cytoplasmic (Potential).|C2 3.			Missense_Mutation	SNP	ENST00000522917.1	37	c.2489C>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259753	0.80246	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.55413	0.52;0.52	5.64	5.64	0.86602	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.145921	0.47093	U	0.000244	T	0.53948	0.1828	N	0.12527	0.23	0.47584	D	0.999463	D	0.69078	0.997	D	0.70487	0.969	T	0.49542	-0.8929	10	0.13853	T	0.58	.	18.4726	0.90779	0.0:1.0:0.0:0.0	.	830	Q2WGJ9	FR1L6_HUMAN	V	830	ENSP00000428280:A830V;ENSP00000381982:A830V	ENSP00000381982:A830V	A	+	2	0	FER1L6	125121328	0.700000	0.27796	0.986000	0.45419	0.893000	0.52053	1.422000	0.34826	2.637000	0.89404	0.563000	0.77884	GCT		0.507	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		68	106	0	0	0	0	68	106				
LRRC6	23639	broad.mit.edu	37	8	133622460	133622460	+	Silent	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:133622460A>G	ENST00000519595.1	-	10	1190	c.1092T>C	c.(1090-1092)tcT>tcC	p.S364S	LRRC6_ENST00000250173.1_Silent_p.S364S|LRRC6_ENST00000518642.1_Silent_p.S361S			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	364	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATCTTTTAGCAGAACTACTAT	0.428																																						uc003ytk.2		NA																	0				ovary(1)|kidney(1)	2						c.(1090-1092)TCT>TCC		leucine rich repeat containing 6							121.0	105.0	111.0					8																	133622460		2203	4300	6503	SO:0001819	synonymous_variant	23639					cytoplasm		g.chr8:133622460A>G	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.1092T>C	8.37:g.133622460A>G						LRRC6_uc003ytl.2_RNA	p.S364S	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		10	1166	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		364			CS.		Q13648|Q4G183	Silent	SNP	ENST00000519595.1	37	c.1092T>C		.	.	.	.	.	.	.	.	.	.	A	10.28	1.307998	0.23821	.	.	ENSG00000129295	ENST00000519085	.	.	.	5.92	1.9	0.25705	.	.	.	.	.	T	0.66557	0.2801	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63571	-0.6607	4	.	.	.	-5.5036	12.9632	0.58470	0.5857:0.4143:0.0:0.0	.	.	.	.	R	86	.	.	C	-	1	0	LRRC6	133691642	0.941000	0.31946	0.998000	0.56505	0.965000	0.64279	0.013000	0.13310	0.446000	0.26666	0.528000	0.53228	TGC		0.428	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		42	186	0	0	0	0	42	186				
ZNF696	79943	broad.mit.edu	37	8	144378710	144378710	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:144378710G>A	ENST00000330143.3	+	3	1274	c.865G>A	c.(865-867)Ggg>Agg	p.G289R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	289					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CGTGCACACGGGGGAGCGGCC	0.726																																						uc003yxy.3		NA																	0					0						c.(865-867)GGG>AGG		zinc finger protein 696							13.0	16.0	15.0					8																	144378710		2189	4277	6466	SO:0001583	missense	79943				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144378710G>A	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"""Zinc fingers, C2H2-type"""	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.865G>A	8.37:g.144378710G>A	ENSP00000328515:p.Gly289Arg						p.G289R	NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		3	1274	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		289					A0AVE2	Missense_Mutation	SNP	ENST00000330143.3	37	c.865G>A	CCDS6399.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964921	0.74131	.	.	ENSG00000185730	ENST00000330143	T	0.01629	4.72	2.78	2.78	0.32641	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04272	0.0118	N	0.25992	0.78	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61893	-0.6969	8	.	.	.	.	11.3025	0.49314	0.0:0.0:1.0:0.0	.	289	Q9H7X3	ZN696_HUMAN	R	289	ENSP00000328515:G289R	.	G	+	1	0	ZNF696	144450085	1.000000	0.71417	0.300000	0.25030	0.687000	0.40016	3.935000	0.56560	1.554000	0.49487	0.551000	0.68910	GGG		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		5	10	0	0	0	0	5	10				
PLEC	5339	broad.mit.edu	37	8	145008864	145008864	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:145008864A>T	ENST00000322810.4	-	10	1560	c.1391T>A	c.(1390-1392)aTg>aAg	p.M464K	PLEC_ENST00000357649.2_Missense_Mutation_p.M331K|PLEC_ENST00000354589.3_Missense_Mutation_p.M327K|PLEC_ENST00000398774.2_Missense_Mutation_p.M295K|PLEC_ENST00000436759.2_Missense_Mutation_p.M354K|PLEC_ENST00000356346.3_Missense_Mutation_p.M313K|PLEC_ENST00000527096.1_Missense_Mutation_p.M350K|PLEC_ENST00000354958.2_Missense_Mutation_p.M305K|PLEC_ENST00000345136.3_Missense_Mutation_p.M327K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	464	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGTAGCTCCATCTCCTTAAA	0.637																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(1390-1392)ATG>AAG		plectin isoform 1							116.0	129.0	125.0					8																	145008864		2082	4202	6284	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145008864A>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1391T>A	8.37:g.145008864A>T	ENSP00000323856:p.Met464Lys					PLEC_uc003zab.1_Missense_Mutation_p.M327K|PLEC_uc003zac.1_Missense_Mutation_p.M331K|PLEC_uc003zad.2_Missense_Mutation_p.M327K|PLEC_uc003zae.1_Missense_Mutation_p.M295K|PLEC_uc003zag.1_Missense_Mutation_p.M305K|PLEC_uc003zah.2_Missense_Mutation_p.M313K|PLEC_uc003zaj.2_Missense_Mutation_p.M354K	p.M464K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			10	1561	-			464			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.1391T>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	a	11.35	1.612109	0.28712	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	D;D;D;D;D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	4.59	3.7	0.42460	.	0.086497	0.43747	U	0.000536	T	0.76997	0.4066	N	0.02539	-0.55	0.35649	D	0.811641	B;B;B;B;B;B;B;B	0.09022	0.002;0.002;0.002;0.001;0.002;0.002;0.002;0.002	B;B;B;B;B;B;B;B	0.09377	0.004;0.004;0.004;0.002;0.004;0.004;0.004;0.004	T	0.76394	-0.2975	10	0.87932	D	0	.	10.9588	0.47372	0.0964:0.0:0.9036:0.0	.	354;313;305;464;295;327;331;327	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	327;331;327;295;464;305;313;354;350;371	ENSP00000344848:M327K;ENSP00000350277:M331K;ENSP00000346602:M327K;ENSP00000381756:M295K;ENSP00000323856:M464K;ENSP00000347044:M305K;ENSP00000348702:M313K;ENSP00000388180:M354K;ENSP00000434583:M350K;ENSP00000437303:M371K	ENSP00000323856:M464K	M	-	2	0	PLEC	145080852	1.000000	0.71417	0.979000	0.43373	0.427000	0.31564	4.566000	0.60843	1.132000	0.42129	-0.471000	0.05019	ATG		0.637	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		64	135	0	0	0	0	64	135				
ZNF251	90987	broad.mit.edu	37	8	145948593	145948593	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:145948593G>A	ENST00000292562.7	-	5	727	c.452C>T	c.(451-453)gCc>gTc	p.A151V	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ACTCTGCCCGGCAGAATTTCC	0.483																																						uc003zdv.3		NA																	0					0						c.(451-453)GCC>GTC		zinc finger protein 251							61.0	61.0	61.0					8																	145948593		1817	4069	5886	SO:0001583	missense	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145948593G>A	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.452C>T	8.37:g.145948593G>A	ENSP00000292562:p.Ala151Val						p.A151V	NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	708	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		151					Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	c.452C>T	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	G	9.904	1.207629	0.22205	.	.	ENSG00000198169	ENST00000292562	T	0.07114	3.22	2.12	-0.271	0.12922	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.45145	-0.9281	9	0.26408	T	0.33	-0.7456	3.2941	0.06960	0.21:0.0:0.5484:0.2416	.	151	Q9BRH9	ZN251_HUMAN	V	151	ENSP00000292562:A151V	ENSP00000292562:A151V	A	-	2	0	ZNF251	145919402	0.000000	0.05858	0.001000	0.08648	0.303000	0.27691	-1.066000	0.03454	-0.078000	0.12730	0.313000	0.20887	GCC		0.483	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		4	180	0	0	0	0	4	180				
JAK2	3717	broad.mit.edu	37	9	5054676	5054676	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:5054676G>A	ENST00000381652.3	+	7	1222	c.728G>A	c.(727-729)tGc>tAc	p.C243Y	JAK2_ENST00000544510.1_Missense_Mutation_p.C94Y|JAK2_ENST00000539801.1_Missense_Mutation_p.C243Y	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	243	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TTCAGCCAATGCAAAGCCACT	0.368		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													uc010mhm.2		1		Dom	yes		9	9p24	3717	T|Mis|O	Janus kinase 2			L	ETV6|PCM1|BCR		ALL|AML|MPD| CML	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	0				haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641						c.(727-729)TGC>TAC		Janus kinase 2							94.0	99.0	97.0					9																	5054676		2203	4300	6503	SO:0001583	missense	3717	Polycythemia_Vera_Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5054676G>A		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.728G>A	9.37:g.5054676G>A	ENSP00000371067:p.Cys243Tyr					JAK2_uc003ziw.2_Missense_Mutation_p.C243Y	p.C243Y	NM_004972	NP_004963	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	6	841	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	243			FERM.		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.728G>A	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506450	0.85282	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.23348	1.91;1.91;1.91	5.81	5.81	0.92471	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.55545	0.1927	M	0.80183	2.485	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	T	0.57528	-0.7796	10	0.66056	D	0.02	-1.781	20.0839	0.97794	0.0:0.0:1.0:0.0	.	243	O60674	JAK2_HUMAN	Y	243;243;94	ENSP00000440387:C243Y;ENSP00000371067:C243Y;ENSP00000443103:C94Y	ENSP00000371067:C243Y	C	+	2	0	JAK2	5044676	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.416000	0.97383	2.742000	0.94016	0.655000	0.94253	TGC		0.368	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			70	164	0	0	0	0	70	164				
RIC1	57589	broad.mit.edu	37	9	5763586	5763586	+	Silent	SNP	A	A	G	rs147383296		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:5763586A>G	ENST00000414202.2	+	19	2750	c.2559A>G	c.(2557-2559)acA>acG	p.T853T	KIAA1432_ENST00000449720.2_Silent_p.T737T|KIAA1432_ENST00000251879.6_Silent_p.T853T|KIAA1432_ENST00000418622.3_Silent_p.T774T|KIAA1432_ENST00000381532.2_Silent_p.T774T	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CCTGTGCCACATTACCTTACT	0.537																																						uc003zji.2		NA																	0					0						c.(2320-2322)ACA>ACG		connexin 43-interacting protein 150 isoform a		A	,,	2,4404	4.2+/-10.8	0,2,2201	124.0	114.0	118.0		2559,2448,2559	-11.7	0.0	9	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	KIAA1432	NM_001135920.2,NM_001206557.1,NM_020829.3	,,	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	,,	853/1166,816/1387,853/1424	5763586	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57589					integral to membrane		g.chr9:5763586A>G																												ENST00000414202.2:c.2559A>G	9.37:g.5763586A>G						KIAA1432_uc003zjh.2_Silent_p.T774T|KIAA1432_uc003zjl.3_Silent_p.T737T|KIAA1432_uc003zjj.1_Silent_p.T316T	p.T774T	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	18	2415	+		Acute lymphoblastic leukemia(23;0.154)	853						Silent	SNP	ENST00000414202.2	37	c.2322A>G	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	A	0.640	-0.813727	0.02798	4.54E-4	0.0	ENSG00000107036	ENST00000545641	.	.	.	5.92	-11.7	0.00046	.	.	.	.	.	T	0.50292	0.1607	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65175	-0.6232	4	.	.	.	0.0016	12.5767	0.56367	0.1773:0.0:0.5761:0.2466	.	.	.	.	V	745	.	.	I	+	1	0	KIAA1432	5753586	0.000000	0.05858	0.000000	0.03702	0.347000	0.29111	-2.269000	0.01168	-1.816000	0.01221	-0.899000	0.02877	ATT		0.537	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			30	127	0	0	0	0	30	127				
KDM4C	23081	broad.mit.edu	37	9	6805761	6805761	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:6805761G>A	ENST00000381309.3	+	3	872	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000535193.1_Missense_Mutation_p.A125T|KDM4C_ENST00000543771.1_Missense_Mutation_p.A103T|KDM4C_ENST00000536108.1_5'UTR|KDM4C_ENST00000401787.3_Missense_Mutation_p.A103T|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000381306.3_Missense_Mutation_p.A103T	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	103					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CAGGCAGCTGGCCAACAGTGG	0.418																																						uc003zkh.2		NA																	0				ovary(1)	1						c.(307-309)GCC>ACC		jumonji domain containing 2C isoform 1							112.0	110.0	111.0					9																	6805761		2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6805761G>A	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.307G>A	9.37:g.6805761G>A	ENSP00000370710:p.Ala103Thr					KDM4C_uc010mhu.2_Missense_Mutation_p.A125T|KDM4C_uc010mhw.2_Missense_Mutation_p.A103T|KDM4C_uc011lmi.1_Missense_Mutation_p.A103T|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.A103T|KDM4C_uc011lmk.1_Intron|KDM4C_uc010mhv.2_Missense_Mutation_p.A103T	p.A103T	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN			3	887	+			103					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.307G>A	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241590	0.95272	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000401787;ENST00000381309;ENST00000381306	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.66247	0.2770	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.991;1.0;1.0;1.0	D;D;P;D;D;D	0.85130	0.997;0.966;0.8;0.995;0.994;0.99	T	0.64206	-0.6462	10	0.46703	T	0.11	-35.1216	19.9401	0.97155	0.0:0.0:1.0:0.0	.	103;103;103;125;103;103	F5H347;B4E1Y4;B0QZ60;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;.;KDM4C_HUMAN;.	T	125;103;103;103;103	ENSP00000442382:A125T;ENSP00000445427:A103T;ENSP00000383990:A103T;ENSP00000370710:A103T;ENSP00000370707:A103T	ENSP00000370707:A103T	A	+	1	0	KDM4C	6795761	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.712000	0.98738	2.712000	0.92718	0.650000	0.86243	GCC		0.418	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		33	66	0	0	0	0	33	66				
ADAMTSL1	92949	broad.mit.edu	37	9	18889684	18889684	+	Missense_Mutation	SNP	C	C	G	rs578104180		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:18889684C>G	ENST00000380548.4	+	25	4920	c.4581C>G	c.(4579-4581)tgC>tgG	p.C1527W	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.C228W	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1527						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTGCCCACTGCGCAGGGAAGG	0.657																																						uc003zne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(4579-4581)TGC>TGG		ADAMTS-like 1 isoform 4 precursor							26.0	31.0	30.0					9																	18889684		2047	4201	6248	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18889684C>G	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4581C>G	9.37:g.18889684C>G	ENSP00000369921:p.Cys1527Trp					ADAMTSL1_uc003znf.3_Missense_Mutation_p.C228W	p.C1527W	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	25	4708	+			1527					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.4581C>G	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990476	0.35131	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239;ENST00000380541;ENST00000380538	T;T;T	0.73047	-0.71;-0.71;-0.71	5.77	-8.11	0.01082	.	0.052068	0.85682	N	0.000000	D	0.85410	0.5690	H	0.96833	3.89	0.39635	D	0.970235	D;D	0.89917	0.999;1.0	D;D	0.91635	0.987;0.999	D	0.88097	0.2817	10	0.87932	D	0	.	13.3177	0.60417	0.0:0.6019:0.098:0.3002	.	228;1527	Q8N6G6-6;Q8N6G6	.;ATL1_HUMAN	W	1527;228;231;231;129	ENSP00000369921:C1527W;ENSP00000369918:C228W;ENSP00000369911:C129W	ENSP00000325584:C231W	C	+	3	2	ADAMTSL1	18879684	0.000000	0.05858	0.004000	0.12327	0.173000	0.22820	-0.549000	0.06041	-1.794000	0.01256	-0.145000	0.13849	TGC		0.657	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			16	23	0	0	0	0	16	23				
IFNW1	3467	broad.mit.edu	37	9	21141013	21141013	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:21141013C>G	ENST00000380229.2	-	1	1131	c.557G>C	c.(556-558)aGa>aCa	p.R186T		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	186					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATCTTTACTTCTCAGTCTTTC	0.378																																						uc003zol.1		NA																	0					0						c.(556-558)AGA>ACA		interferon, omega 1 precursor							119.0	107.0	111.0					9																	21141013		2203	4300	6503	SO:0001583	missense	3467				cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21141013C>G		CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"""Interferons"""	5448	protein-coding gene	gene with protein product	"""IFN-omega 1, interferon omega-1"""	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.557G>C	9.37:g.21141013C>G	ENSP00000369578:p.Arg186Thr						p.R186T	NM_002177	NP_002168	P05000	IFNW1_HUMAN		GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	1132	-			186					Q13168|Q5U802|Q5VWD0|Q7M4P5	Missense_Mutation	SNP	ENST00000380229.2	37	c.557G>C	CCDS6496.1	.	.	.	.	.	.	.	.	.	.	C	9.916	1.210976	0.22289	.	.	ENSG00000177047	ENST00000380229	T	0.04551	3.6	4.14	3.23	0.37069	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.781155	0.12040	N	0.505116	T	0.10380	0.0254	M	0.78801	2.425	0.09310	N	1	B	0.21225	0.053	B	0.33295	0.161	T	0.18272	-1.0342	10	0.54805	T	0.06	.	7.8454	0.29422	0.0:0.8835:0.0:0.1165	.	186	P05000	IFNW1_HUMAN	T	186	ENSP00000369578:R186T	ENSP00000369578:R186T	R	-	2	0	IFNW1	21131013	0.000000	0.05858	0.004000	0.12327	0.023000	0.10783	-0.488000	0.06497	0.930000	0.37217	0.557000	0.71058	AGA		0.378	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177		20	110	0	0	0	0	20	110				
ELAVL2	1993	broad.mit.edu	37	9	23762230	23762230	+	Start_Codon_SNP	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:23762230C>A	ENST00000397312.2	-	2	277	c.3G>T	c.(1-3)atG>atT	p.M1I	ELAVL2_ENST00000380110.4_Missense_Mutation_p.M30I|ELAVL2_ENST00000544538.1_Start_Codon_SNP_p.M1I|ELAVL2_ENST00000462649.1_5'Flank|ELAVL2_ENST00000380117.1_Start_Codon_SNP_p.M1I|ELAVL2_ENST00000223951.6_Start_Codon_SNP_p.M1I	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	1					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GTTGTGTTTCCATGGCAGCAA	0.403																																						uc003zpu.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1-3)ATG>ATT		ELAV (embryonic lethal, abnormal vision,							232.0	217.0	222.0					9																	23762230		2203	4300	6503	SO:0001582	initiator_codon_variant	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23762230C>A	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.3G>T	9.37:g.23762230C>A	ENSP00000380479:p.Met1Ile					ELAVL2_uc003zps.2_Missense_Mutation_p.M1I|ELAVL2_uc003zpt.2_Missense_Mutation_p.M1I|ELAVL2_uc003zpv.2_Missense_Mutation_p.M1I|ELAVL2_uc003zpw.2_Missense_Mutation_p.M1I	p.M1I	NM_004432	NP_004423	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	2	278	-			1					D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.3G>T	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073851	0.76415	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000440102	T;T;T;T;T	0.13089	2.62;3.02;3.02;3.02;2.95	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.42494	0.1205	.	.	.	0.80722	D	1	P;D	0.56521	0.951;0.976	P;D	0.73380	0.593;0.98	T	0.12477	-1.0546	9	0.59425	D	0.04	.	20.33	0.98713	0.0:1.0:0.0:0.0	.	1;1	Q12926;Q12926-2	ELAV2_HUMAN;.	I	1;1;1;1;1;29;1	ENSP00000223951:M1I;ENSP00000380479:M1I;ENSP00000440998:M1I;ENSP00000369460:M1I;ENSP00000412602:M1I	ENSP00000223951:M1I	M	-	3	0	ELAVL2	23752230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.802000	0.85969	2.810000	0.96702	0.585000	0.79938	ATG		0.403	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432	Missense_Mutation	121	301	1	0	3.29e-43	4.4e-43	121	301				
LINGO2	158038	broad.mit.edu	37	9	27949987	27949987	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:27949987T>A	ENST00000379992.2	-	6	1132	c.683A>T	c.(682-684)aAa>aTa	p.K228I	LINGO2_ENST00000308675.3_Missense_Mutation_p.K228I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	228						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CTCTAGGTGTTTCAGGTGGAA	0.473																																						uc003zqu.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(682-684)AAA>ATA		leucine rich repeat and Ig domain containing 2							119.0	119.0	119.0					9																	27949987		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949987T>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.683A>T	9.37:g.27949987T>A	ENSP00000369328:p.Lys228Ile					LINGO2_uc010mjf.1_Missense_Mutation_p.K228I|LINGO2_uc003zqv.1_Missense_Mutation_p.K228I	p.K228I	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	877	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	228			LRR 8.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.683A>T	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.884837	0.51908	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.59502	0.26;0.26	6.17	6.17	0.99709	.	0.050651	0.85682	D	0.000000	T	0.64897	0.2640	L	0.58583	1.82	0.53005	D	0.999962	B	0.30763	0.294	B	0.43386	0.418	T	0.60403	-0.7270	9	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	228	Q7L985	LIGO2_HUMAN	I	228	ENSP00000369328:K228I;ENSP00000310126:K228I	.	K	-	2	0	LINGO2	27939987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.776000	0.55356	2.371000	0.80710	0.533000	0.62120	AAA		0.473	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		27	119	0	0	0	0	27	119				
ROR2	4920	broad.mit.edu	37	9	94487036	94487036	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:94487036G>T	ENST00000375708.3	-	9	1938	c.1740C>A	c.(1738-1740)gaC>gaA	p.D580E	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.D440E	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	580	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCACCGTGCGGTCATCATCGG	0.632																																						uc004arj.1		NA																	0		p.D580Y(1)		lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						c.(1738-1740)GAC>GAA		receptor tyrosine kinase-like orphan receptor 2							55.0	51.0	53.0					9																	94487036		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94487036G>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1740C>A	9.37:g.94487036G>T	ENSP00000364860:p.Asp580Glu					ROR2_uc004ari.1_Missense_Mutation_p.D440E	p.D580E	NM_004560	NP_004551	Q01974	ROR2_HUMAN			9	1939	-			580			Cytoplasmic (Potential).|Protein kinase.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.1740C>A	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	8.255	0.809982	0.16537	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.88818	-2.43;-2.43	4.86	1.86	0.25419	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.157511	0.29093	N	0.013180	T	0.78323	0.4265	L	0.27053	0.805	0.58432	D	0.999996	B;B	0.19817	0.039;0.02	B;B	0.26693	0.072;0.044	T	0.68739	-0.5329	10	0.51188	T	0.08	.	1.9052	0.03275	0.2246:0.149:0.487:0.1394	.	580;440	Q01974;B1APY4	ROR2_HUMAN;.	E	440;580	ENSP00000364867:D440E;ENSP00000364860:D580E	ENSP00000364860:D580E	D	-	3	2	ROR2	93526857	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	2.761000	0.47589	0.647000	0.30713	-0.258000	0.10820	GAC		0.632	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			6	51	1	0	2.77e-08	3.23e-08	6	51				
OR13C8	138802	broad.mit.edu	37	9	107332082	107332082	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:107332082T>G	ENST00000335040.1	+	1	634	c.634T>G	c.(634-636)Tta>Gta	p.L212V		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	212						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(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TATTCCATTGTTAGTAATTTC	0.403																																						uc011lvo.1		NA																	0				ovary(1)|skin(1)	2						c.(634-636)TTA>GTA		olfactory receptor, family 13, subfamily C,							206.0	200.0	202.0					9																	107332082		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107332082T>G		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.634T>G	9.37:g.107332082T>G	ENSP00000334068:p.Leu212Val						p.L212V	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			1	634	+			212			Helical; Name=5; (Potential).		Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.634T>G	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	T	6.321	0.427384	0.11987	.	.	ENSG00000186943	ENST00000335040	T	0.38722	1.12	4.88	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	0.156815	0.29760	N	0.011264	T	0.36303	0.0962	L	0.55213	1.73	0.20873	N	0.999832	B	0.33826	0.427	B	0.40940	0.344	T	0.18053	-1.0349	10	0.37606	T	0.19	.	3.4079	0.07348	0.1795:0.5239:0.0:0.2966	.	212	Q8NGS7	O13C8_HUMAN	V	212	ENSP00000334068:L212V	ENSP00000334068:L212V	L	+	1	2	OR13C8	106371903	0.000000	0.05858	0.947000	0.38551	0.165000	0.22458	-1.496000	0.02291	0.723000	0.32274	-0.242000	0.12053	TTA		0.403	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			53	139	0	0	0	0	53	139				
AKAP2	11217	broad.mit.edu	37	9	112898525	112898525	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:112898525T>C	ENST00000259318.7	+	2	215	c.8T>C	c.(7-9)aTt>aCt	p.I3T	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.I234T|AKAP2_ENST00000510514.5_Missense_Mutation_p.I234T|AKAP2_ENST00000374525.1_Missense_Mutation_p.I92T|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.I234T|AKAP2_ENST00000434623.2_Missense_Mutation_p.I92T|AKAP2_ENST00000555236.1_Missense_Mutation_p.I234T	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	3										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AACATGGAAATTGAGGTGTCT	0.502																																						uc004bei.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1396-1398)ATT>ACT		A kinase (PRKA) anchor protein 2 isoform 2							117.0	115.0	116.0					9																	112898525		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112898525T>C	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.8T>C	9.37:g.112898525T>C	ENSP00000259318:p.Ile3Thr					PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.I234T|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.I234T|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.I44T|AKAP2_uc011lwi.1_Missense_Mutation_p.I92T|AKAP2_uc004bem.2_Missense_Mutation_p.I92T|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.I52T|AKAP2_uc011lwj.1_Missense_Mutation_p.I3T|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.I3T	p.I466T	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			9	1589	+			3					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.1397T>C	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.544972	0.86022	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.55234	1.88;1.88;1.88;1.88;1.11;0.53;0.53;0.91	6.17	6.17	0.99709	.	0.181516	0.37906	N	0.001897	T	0.71617	0.3361	M	0.66939	2.045	0.42593	D	0.993259	D;D;D;D;D;P;P;P	0.89917	0.983;1.0;0.993;1.0;0.999;0.873;0.873;0.799	P;D;D;D;D;P;P;B	0.85130	0.703;0.997;0.977;0.997;0.994;0.544;0.544;0.343	T	0.74578	-0.3619	10	0.87932	D	0	-10.5888	16.0034	0.80327	0.0:0.0:0.0:1.0	.	3;92;86;92;93;234;234;52	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	T	234;234;234;234;92;92;52;3	ENSP00000363654:I234T;ENSP00000305861:I234T;ENSP00000451476:I234T;ENSP00000421522:I234T;ENSP00000404782:I92T;ENSP00000363649:I92T;ENSP00000419268:I52T;ENSP00000259318:I3T	ENSP00000259318:I3T	I	+	2	0	PALM2-AKAP2;AKAP2	111938346	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.514000	0.60482	2.371000	0.80710	0.533000	0.62120	ATT		0.502	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		45	222	0	0	0	0	45	222				
TNC	3371	broad.mit.edu	37	9	117848972	117848972	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:117848972G>T	ENST00000350763.4	-	3	1449	c.1038C>A	c.(1036-1038)tgC>tgA	p.C346*	TNC_ENST00000346706.3_Nonsense_Mutation_p.C346*|TNC_ENST00000535648.1_Nonsense_Mutation_p.C346*|TNC_ENST00000542877.1_Nonsense_Mutation_p.C346*|TNC_ENST00000345230.3_Nonsense_Mutation_p.C346*|TNC_ENST00000341037.4_Nonsense_Mutation_p.C346*|TNC_ENST00000537320.1_Nonsense_Mutation_p.C346*|TNC_ENST00000423613.2_Nonsense_Mutation_p.C346*|TNC_ENST00000340094.3_Nonsense_Mutation_p.C346*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	346	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGGCATGTGGGCAGGTGGGTT	0.612																																						uc004bjj.3		NA																	0				central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(1036-1038)TGC>TGA		tenascin C precursor							68.0	65.0	66.0					9																	117848972		2203	4300	6503	SO:0001587	stop_gained	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117848972G>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1038C>A	9.37:g.117848972G>T	ENSP00000265131:p.Cys346*					TNC_uc010mvf.2_Nonsense_Mutation_p.C346*	p.C346*	NM_002160	NP_002151	P24821	TENA_HUMAN			3	1400	-			346			EGF-like 7.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Nonsense_Mutation	SNP	ENST00000350763.4	37	c.1038C>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	37	6.547378	0.97654	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.	.	.	5.65	0.668	0.17912	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5417	0.39255	0.3477:0.0:0.6523:0.0	.	.	.	.	X	346	.	ENSP00000344400:C346X	C	-	3	2	TNC	116888793	1.000000	0.71417	0.982000	0.44146	0.214000	0.24535	1.929000	0.40114	-0.064000	0.13043	0.563000	0.77884	TGC		0.612	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		12	60	1	0	1.58e-08	1.85e-08	12	60				
OR5C1	392391	broad.mit.edu	37	9	125551651	125551651	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:125551651C>T	ENST00000373680.2	+	1	502	c.440C>T	c.(439-441)gCc>gTc	p.A147V		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	147						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(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CTATGCCTGGCCTTGCTGGGA	0.572																																						uc011lzd.1		NA																	0				pancreas(1)	1						c.(439-441)GCC>GTC		olfactory receptor, family 5, subfamily C,							91.0	89.0	90.0					9																	125551651		2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551651C>T	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.440C>T	9.37:g.125551651C>T	ENSP00000362784:p.Ala147Val						p.A147V	NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN			1	440	+			147			Helical; Name=4; (Potential).		B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.440C>T	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	C	6.542	0.468212	0.12461	.	.	ENSG00000148215	ENST00000373680	T	0.00039	8.85	5.33	2.14	0.27477	GPCR, rhodopsin-like superfamily (1);	0.817457	0.10005	N	0.727920	T	0.00073	0.0002	N	0.11201	0.11	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.00795	-1.1563	10	0.16896	T	0.51	.	5.8132	0.18477	0.0:0.5799:0.1439:0.2762	.	147	Q8NGR4	OR5C1_HUMAN	V	147	ENSP00000362784:A147V	ENSP00000362784:A147V	A	+	2	0	OR5C1	124591472	0.000000	0.05858	0.972000	0.41901	0.589000	0.36550	-1.077000	0.03416	0.745000	0.32763	-0.136000	0.14681	GCC		0.572	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			40	74	0	0	0	0	40	74				
LHX2	9355	broad.mit.edu	37	9	126776323	126776323	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:126776323G>T	ENST00000373615.4	+	2	943	c.204G>T	c.(202-204)gcG>gcT	p.A68A	RP11-85O21.4_ENST00000421041.1_RNA	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	68	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						ACCTGCTGGCGGTGGACAAGC	0.637																																						uc004boe.1		NA																	0					0						c.(202-204)GCG>GCT		LIM homeobox protein 2							70.0	65.0	67.0					9																	126776323		2203	4300	6503	SO:0001819	synonymous_variant	9355					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:126776323G>T	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"""Homeoboxes / LIM class"""	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.204G>T	9.37:g.126776323G>T						LHX2_uc010mwi.1_Silent_p.A68A	p.A68A	NM_004789	NP_004780	P50458	LHX2_HUMAN			2	943	+			68			LIM zinc-binding 1.		O95860|Q52M57|Q8N1Z3	Silent	SNP	ENST00000373615.4	37	c.204G>T	CCDS6853.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068445	0.36470	.	.	ENSG00000106689	ENST00000446480	.	.	.	5.84	-4.47	0.03525	.	.	.	.	.	T	0.36744	0.0978	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38824	-0.9643	4	.	.	.	.	1.5536	0.02580	0.4441:0.1027:0.1414:0.3119	.	.	.	.	C	66	.	.	G	+	1	0	LHX2	125816144	0.242000	0.23868	0.982000	0.44146	0.997000	0.91878	-0.286000	0.08399	-0.454000	0.07066	-0.137000	0.14449	GGT		0.637	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2			18	94	1	0	3.52e-12	4.28e-12	18	94				
PRDM12	59335	broad.mit.edu	37	9	133542106	133542106	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:133542106C>A	ENST00000253008.2	+	2	395	c.335C>A	c.(334-336)aCc>aAc	p.T112N		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	112	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		AAGGCGGGAACCGAGATGGGC	0.647																																						uc004bzt.1		NA																	0					0						c.(334-336)ACC>AAC		PR domain containing 12							77.0	80.0	79.0					9																	133542106		2203	4300	6503	SO:0001583	missense	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133542106C>A	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.335C>A	9.37:g.133542106C>A	ENSP00000253008:p.Thr112Asn						p.T112N	NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	2	395	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	112			SET.		A3KFK9	Missense_Mutation	SNP	ENST00000253008.2	37	c.335C>A	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234661	0.95207	.	.	ENSG00000130711	ENST00000253008	T	0.72394	-0.65	5.31	5.31	0.75309	SET domain (2);	0.000000	0.85682	D	0.000000	D	0.85526	0.5717	M	0.83774	2.66	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	D	0.87499	0.2432	10	0.72032	D	0.01	-46.9511	17.9465	0.89040	0.0:1.0:0.0:0.0	.	112	Q9H4Q4	PRD12_HUMAN	N	112	ENSP00000253008:T112N	ENSP00000253008:T112N	T	+	2	0	PRDM12	132531927	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.298000	0.78815	2.483000	0.83821	0.491000	0.48974	ACC		0.647	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		36	125	1	0	6.08e-31	8.03e-31	36	125				
PHPT1	29085	broad.mit.edu	37	9	139748462	139748462	+	IGR	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:139748462C>T	ENST00000247665.10	+	0	890				MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Nonsense_Mutation_p.R202*|MAMDC4_ENST00000317446.2_Nonsense_Mutation_p.R202*	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTCTGCCACCCGAAATGCCAC	0.622																																						uc004cjs.2		NA																	0				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7						c.(604-606)CGA>TGA		apical early endosomal glycoprotein precursor							103.0	99.0	100.0					9																	139748462		2202	4300	6502	SO:0001628	intergenic_variant	158056				protein transport	integral to membrane		g.chr9:139748462C>T	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950		9.37:g.139748462C>T						MAMDC4_uc011mej.1_5'UTR	p.R202*	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	6	654	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	202			Extracellular (Potential).|MAM 1.		B1AMX0|B1AMX1|Q9H0Y3	Nonsense_Mutation	SNP	ENST00000247665.10	37	c.604C>T	CCDS7009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	37|37	6.127091|6.127091	0.97305|0.97305	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000413647|ENST00000317446;ENST00000445819	.|.	.|.	.|.	4.25|4.25	3.34|3.34	0.38264|0.38264	.|.	.|0.135236	.|0.33834	.|N	.|0.004515	T|.	0.24851|.	0.0603|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31558|.	-0.9939|.	3|.	.|0.05351	.|T	.|0.99	-13.824|-13.824	10.3798|10.3798	0.44104|0.44104	0.355:0.645:0.0:0.0|0.355:0.645:0.0:0.0	.|.	.|.	.|.	.|.	L|X	183|202	.|.	.|ENSP00000319388:R202X	P|R	+|+	2|1	0|2	MAMDC4|MAMDC4	138868283|138868283	0.185000|0.185000	0.23213|0.23213	0.958000|0.958000	0.39756|0.39756	0.973000|0.973000	0.67179|0.67179	0.997000|0.997000	0.29731|0.29731	0.989000|0.989000	0.38761|0.38761	0.561000|0.561000	0.74099|0.74099	CCG|CGA		0.622	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		25	122	0	0	0	0	25	122				
CDKL5	6792	broad.mit.edu	37	X	18602398	18602398	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:18602398T>G	ENST00000379989.3	+	9	764	c.479T>G	c.(478-480)cTg>cGg	p.L160R	CDKL5_ENST00000379996.3_Missense_Mutation_p.L160R	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	160	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GCTCGTAATCTGTCAGAAGGC	0.383																																						uc004cym.2		NA																	0				ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6						c.(478-480)CTG>CGG		cyclin-dependent kinase-like 5							152.0	132.0	139.0					X																	18602398		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18602398T>G	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.479T>G	X.37:g.18602398T>G	ENSP00000369325:p.Leu160Arg					CDKL5_uc004cyn.2_Missense_Mutation_p.L160R	p.L160R	NM_003159	NP_003150	O76039	CDKL5_HUMAN			8	732	+	Hepatocellular(33;0.183)		160			Protein kinase.		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.479T>G	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.271127	0.59649	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.68624	-0.34;-0.34	5.74	5.74	0.90152	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79695	0.4490	M	0.63843	1.955	0.58432	D	0.999991	D	0.76494	0.999	D	0.77557	0.99	T	0.81861	-0.0738	10	0.87932	D	0	-12.1032	14.9676	0.71208	0.0:0.0:0.0:1.0	.	160	O76039	CDKL5_HUMAN	R	160	ENSP00000369332:L160R;ENSP00000369325:L160R	ENSP00000369325:L160R	L	+	2	0	CDKL5	18512319	1.000000	0.71417	0.878000	0.34440	0.210000	0.24377	8.021000	0.88750	1.917000	0.55516	0.441000	0.28932	CTG		0.383	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		30	116	0	0	0	0	30	116				
DCAF8L1	139425	broad.mit.edu	37	X	27998655	27998655	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:27998655C>T	ENST00000441525.1	-	1	911	c.797G>A	c.(796-798)cGg>cAg	p.R266Q		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	266										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TTCTGCTACCCGTACCTGTCC	0.493																																						uc004dbx.1		NA																	0				ovary(3)|skin(1)	4						c.(796-798)CGG>CAG		DDB1 and CUL4 associated factor 8-like 1							89.0	78.0	82.0					X																	27998655		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998655C>T		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.797G>A	X.37:g.27998655C>T	ENSP00000405222:p.Arg266Gln						p.R266Q	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	912	-			266			WD 2.		B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.797G>A	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484011	0.63962	.	.	ENSG00000226372	ENST00000441525	D	0.83335	-1.71	0.842	0.842	0.18927	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	0.90553	0.7039	M	0.93594	3.435	0.48040	D	0.999579	D	0.89917	1.0	D	0.64776	0.929	D	0.89290	0.3618	10	0.87932	D	0	-9.6359	7.2758	0.26283	0.0:0.9999:0.0:1.0E-4	.	266	A6NGE4	DC8L1_HUMAN	Q	266	ENSP00000405222:R266Q	ENSP00000405222:R266Q	R	-	2	0	DCAF8L1	27908576	0.996000	0.38824	0.003000	0.11579	0.118000	0.20060	2.976000	0.49289	0.691000	0.31592	0.284000	0.19432	CGG		0.493	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		27	40	0	0	0	0	27	40				
MAGEB4	4115	broad.mit.edu	37	X	30260456	30260456	+	Silent	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:30260456C>G	ENST00000378982.2	+	1	400	c.204C>G	c.(202-204)acC>acG	p.T68T	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	68										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						AGCCACCCACCACCTCTGCTG	0.532																																						uc004dcb.2		NA																	0				ovary(1)	1						c.(202-204)ACC>ACG		melanoma antigen family B, 4							54.0	49.0	51.0					X																	30260456		2202	4300	6502	SO:0001819	synonymous_variant	4115							g.chrX:30260456C>G		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.204C>G	X.37:g.30260456C>G						MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	p.T68T	NM_002367	NP_002358	O15481	MAGB4_HUMAN			1	288	+			68					B2R9G0|Q6FHH4|Q8IZ00	Silent	SNP	ENST00000378982.2	37	c.204C>G	CCDS14221.1																																																																																				0.532	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		15	13	0	0	0	0	15	13				
CACNA1F	778	broad.mit.edu	37	X	49075889	49075889	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:49075889G>T	ENST00000376265.2	-	21	2658	c.2597C>A	c.(2596-2598)aCc>aAc	p.T866N	CACNA1F_ENST00000323022.5_Missense_Mutation_p.T855N|CACNA1F_ENST00000376251.1_Missense_Mutation_p.T801N|CACNA1F_ENST00000480889.1_5'Flank	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	866					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGGATGAGGGTGTGGCAGCC	0.567																																						uc004dnb.2		NA																	0				breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(2596-2598)ACC>AAC		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						97.0	76.0	83.0					X																	49075889		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49075889G>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2597C>A	X.37:g.49075889G>T	ENSP00000365441:p.Thr866Asn					CACNA1F_uc010nip.2_Missense_Mutation_p.T855N	p.T866N	NM_005183	NP_005174	O60840	CAC1F_HUMAN			21	2659	-			866			III.|Cytoplasmic (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.2597C>A	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	8.910	0.958426	0.18507	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96073	-3.9;-3.83;-3.83	4.77	3.01	0.34805	.	0.708628	0.13972	N	0.350077	D	0.88797	0.6534	L	0.31294	0.92	0.32781	N	0.502489	B;B	0.27068	0.002;0.167	B;B	0.15870	0.005;0.014	D	0.83567	0.0110	10	0.29301	T	0.29	.	3.6476	0.08191	0.1987:0.0:0.4971:0.3042	.	855;866	F5CIQ9;O60840	.;CAC1F_HUMAN	N	801;855;866	ENSP00000365427:T801N;ENSP00000321618:T855N;ENSP00000365441:T866N	ENSP00000321618:T855N	T	-	2	0	CACNA1F	48962833	0.000000	0.05858	0.989000	0.46669	0.783000	0.44284	-0.073000	0.11468	0.457000	0.26962	-0.331000	0.08364	ACC		0.567	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		5	7	1	0	0.00198382	0.00207743	5	7				
GSPT2	23708	broad.mit.edu	37	X	51488052	51488052	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:51488052A>C	ENST00000340438.4	+	1	1572	c.1330A>C	c.(1330-1332)Act>Cct	p.T444P		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	444					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AGATATGGGCACTGTGGTCCT	0.413																																						uc004dpl.2		NA																	0				ovary(1)	1						c.(1330-1332)ACT>CCT		peptide chain release factor 3							69.0	62.0	64.0					X																	51488052		2203	4300	6503	SO:0001583	missense	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51488052A>C	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1330A>C	X.37:g.51488052A>C	ENSP00000341247:p.Thr444Pro						p.T444P	NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN			1	1556	+	Ovarian(276;0.236)		444					Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	ENST00000340438.4	37	c.1330A>C	CCDS14336.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994914	0.54041	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.68181	-0.31	4.54	4.54	0.55810	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.052165	0.85682	D	0.000000	T	0.81702	0.4878	M	0.84433	2.695	0.58432	D	0.999999	D	0.71674	0.998	D	0.79108	0.992	D	0.84442	0.0583	10	0.87932	D	0	-12.946	11.2095	0.48790	1.0:0.0:0.0:0.0	.	444	Q8IYD1	ERF3B_HUMAN	P	444;361	ENSP00000341247:T444P	ENSP00000341247:T444P	T	+	1	0	GSPT2	51504792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.580000	0.60942	2.011000	0.59026	0.478000	0.44815	ACT		0.413	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			33	30	0	0	0	0	33	30				
FOXO4	4303	broad.mit.edu	37	X	70321491	70321491	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:70321491G>C	ENST00000374259.3	+	2	1743	c.1411G>C	c.(1411-1413)Gat>Cat	p.D471H	FOXO4_ENST00000341558.3_Missense_Mutation_p.D416H	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	471					cell cycle arrest (GO:0007050)|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)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					TCAGGATCTAGATCTTGATAT	0.527																																						uc004dys.1		NA																	0				central_nervous_system(2)|prostate(1)	3						c.(1411-1413)GAT>CAT		forkhead box O4							82.0	81.0	81.0					X																	70321491		2025	4159	6184	SO:0001583	missense	4303				cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:70321491G>C		CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.1411G>C	X.37:g.70321491G>C	ENSP00000363377:p.Asp471His					FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Missense_Mutation_p.D416H	p.D471H	NM_005938	NP_005929	P98177	FOXO4_HUMAN			2	1764	+	Renal(35;0.156)		471					B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	ENST00000374259.3	37	c.1411G>C	CCDS43969.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613344	0.46631	.	.	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.96685	-4.09;-4.09	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.97939	0.9322	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98917	1.0782	10	0.87932	D	0	-37.8537	16.408	0.83697	0.0:0.0:1.0:0.0	.	416;471	P98177-2;P98177	.;FOXO4_HUMAN	H	471;416	ENSP00000363377:D471H;ENSP00000342209:D416H	ENSP00000342209:D416H	D	+	1	0	FOXO4	70238216	1.000000	0.71417	0.831000	0.32960	0.989000	0.77384	7.456000	0.80751	2.334000	0.79466	0.600000	0.82982	GAT		0.527	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938		46	42	0	0	0	0	46	42				
TBX22	50945	broad.mit.edu	37	X	79282239	79282239	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:79282239G>T	ENST00000373294.5	+	5	698	c.670G>T	c.(670-672)Gtg>Ttg	p.V224L	TBX22_ENST00000373296.3_Missense_Mutation_p.V224L|TBX22_ENST00000373291.1_Missense_Mutation_p.V104L|TBX22_ENST00000442340.1_Missense_Mutation_p.V104L	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	224					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAAACCCCGAGTGCACGTGAT	0.453																																						uc010nmg.1		NA																	0				lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(670-672)GTG>TTG		T-box 22 isoform 1							164.0	131.0	142.0					X																	79282239		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79282239G>T	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.670G>T	X.37:g.79282239G>T	ENSP00000362390:p.Val224Leu					TBX22_uc004edi.1_Missense_Mutation_p.V104L|TBX22_uc004edj.1_Missense_Mutation_p.V224L	p.V224L	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			6	804	+			224			T-box.		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.670G>T	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689254	0.29962	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	3.88	3.88	0.44766	p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.76442	0.3988	N	0.25485	0.75	0.58432	D	0.999994	B	0.33964	0.434	B	0.34418	0.182	T	0.76966	-0.2763	10	0.44086	T	0.13	.	12.6447	0.56728	0.0:0.0:1.0:0.0	.	224	Q9Y458	TBX22_HUMAN	L	224;104;224;104	ENSP00000362393:V224L;ENSP00000396394:V104L;ENSP00000362390:V224L;ENSP00000362388:V104L	ENSP00000362388:V104L	V	+	1	0	TBX22	79168895	1.000000	0.71417	0.911000	0.35937	0.143000	0.21401	6.790000	0.75115	1.923000	0.55706	0.600000	0.82982	GTG		0.453	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		37	44	1	0	1.31e-17	1.67e-17	37	44				
NXF3	56000	broad.mit.edu	37	X	102332615	102332615	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:102332615C>T	ENST00000395065.3	-	18	1612	c.1511G>A	c.(1510-1512)aGt>aAt	p.S504N	NXF3_ENST00000425644.1_Missense_Mutation_p.S176N	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	504					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GAACAAGGCACTCTGGGTCCC	0.567																																						uc004eju.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1510-1512)AGT>AAT		nuclear RNA export factor 3							219.0	142.0	168.0					X																	102332615		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102332615C>T	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.1511G>A	X.37:g.102332615C>T	ENSP00000378504:p.Ser504Asn					NXF3_uc010noi.1_3'UTR	p.S504N	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN			18	1582	-			504					B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.1511G>A	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	C	6.208	0.406612	0.11754	.	.	ENSG00000147206	ENST00000395065;ENST00000425644	T	0.44482	0.92	4.44	1.51	0.23008	.	0.802916	0.11437	N	0.564142	T	0.31765	0.0807	L	0.52011	1.625	0.20074	N	0.999938	B	0.20780	0.048	B	0.16289	0.015	T	0.28996	-1.0026	10	0.17369	T	0.5	0.136	6.4846	0.22081	0.0:0.6299:0.0:0.3701	.	504	Q9H4D5	NXF3_HUMAN	N	504;176	ENSP00000378504:S504N	ENSP00000378504:S504N	S	-	2	0	NXF3	102219271	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	0.392000	0.20801	0.051000	0.15978	0.600000	0.82982	AGT		0.567	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		63	32	0	0	0	0	63	32				
PAK3	5063	broad.mit.edu	37	X	110385414	110385414	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:110385414G>C	ENST00000372010.1	+	6	708	c.266G>C	c.(265-267)gGg>gCg	p.G89A	PAK3_ENST00000519681.1_Missense_Mutation_p.G89A|PAK3_ENST00000446737.1_Missense_Mutation_p.G89A|PAK3_ENST00000372007.5_Missense_Mutation_p.G89A|PAK3_ENST00000425146.1_Missense_Mutation_p.G89A|PAK3_ENST00000262836.4_Missense_Mutation_p.G89A|PAK3_ENST00000360648.4_Missense_Mutation_p.G89A|PAK3_ENST00000518291.1_Missense_Mutation_p.G89A|PAK3_ENST00000417227.1_Missense_Mutation_p.G89A			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	89	Autoregulatory region. {ECO:0000250}.|GTPase-binding. {ECO:0000250}.|Linker.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GCAGTCACCGGGGAATTCACT	0.418										TSP Lung(19;0.15)																												uc004epa.2		NA																	0				lung(6)|ovary(3)|large_intestine(1)	10						c.(265-267)GGG>GCG		p21-activated kinase 3 isoform d							172.0	174.0	173.0					X																	110385414		2203	4300	6503	SO:0001583	missense	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110385414G>C	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.266G>C	X.37:g.110385414G>C	ENSP00000361080:p.Gly89Ala	TSP Lung(19;0.15)				PAK3_uc010npt.1_Missense_Mutation_p.G89A|PAK3_uc010npu.1_Missense_Mutation_p.G89A|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.G89A|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.G89A|PAK3_uc010npw.1_Missense_Mutation_p.G89A	p.G89A	NM_001128173	NP_001121645	O75914	PAK3_HUMAN			2	293	+			89			Autoregulatory region (By similarity).|Linker.|GTPase-binding (By similarity).		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	c.266G>C	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802056	0.90538	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000429193;ENST00000360648;ENST00000417227;ENST00000262836	D;D;D;D;D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.96	5.96	0.96718	PAK-box/P21-Rho-binding (2);	0.055575	0.64402	D	0.000001	D	0.96482	0.8852	H	0.95780	3.72	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.79784	0.989;0.989;0.993;0.973	D	0.97211	0.9871	10	0.72032	D	0.01	.	19.3371	0.94324	0.0:0.0:1.0:0.0	.	89;89;89;89	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	A	89	ENSP00000410853:G89A;ENSP00000401982:G89A;ENSP00000361080:G89A;ENSP00000429113:G89A;ENSP00000361077:G89A;ENSP00000428921:G89A;ENSP00000405642:G89A;ENSP00000353864:G89A;ENSP00000389172:G89A;ENSP00000262836:G89A	ENSP00000262836:G89A	G	+	2	0	PAK3	110272070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.520000	0.84964	0.600000	0.82982	GGG		0.418	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		82	80	0	0	0	0	82	80				
BCORL1	63035	broad.mit.edu	37	X	129171509	129171509	+	Splice_Site	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:129171509G>A	ENST00000218147.7	+	9	4669		c.e9+1		BCORL1_ENST00000359304.2_Splice_Site|BCORL1_ENST00000303743.5_Splice_Site|BCORL1_ENST00000540052.1_Splice_Site			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ACGGCACGAGGCAAGAGGGCT	0.652																																						uc004evb.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.e9+1		BCL6 co-repressor-like 1							76.0	56.0	63.0					X																	129171509		2203	4300	6503	SO:0001630	splice_region_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129171509G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4472+1G>A	X.37:g.129171509G>A						BCORL1_uc004evc.1_Splice_Site_p.R327_splice	p.R1491_splice	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			9	4586	+								B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Splice_Site	SNP	ENST00000218147.7	37	c.4472_splice	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966813	0.53507	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2667	0.90054	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BCORL1	128999190	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	9.145000	0.94634	2.252000	0.74401	0.600000	0.82982	.		0.652	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946	Intron	49	46	0	0	0	0	49	46				
MAGEC1	9947	broad.mit.edu	37	X	140994507	140994507	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:140994507C>T	ENST00000285879.4	+	4	1603	c.1317C>T	c.(1315-1317)ccC>ccT	p.P439P	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	439										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGTTTTCCCCAGTCTCCTC	0.453										HNSCC(15;0.026)																												uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1315-1317)CCC>CCT		melanoma antigen family C, 1							100.0	108.0	106.0					X																	140994507		2199	4292	6491	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994507C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1317C>T	X.37:g.140994507C>T		HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.P439P	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	1603	+	Acute lymphoblastic leukemia(192;6.56e-05)		439					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1317C>T	CCDS35417.1																																																																																				0.453	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		108	106	0	0	0	0	108	106				
SLITRK4	139065	broad.mit.edu	37	X	142717807	142717807	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:142717807A>G	ENST00000381779.4	-	2	1343	c.1118T>C	c.(1117-1119)aTa>aCa	p.I373T	SLITRK4_ENST00000338017.4_Missense_Mutation_p.I373T|SLITRK4_ENST00000356928.1_Missense_Mutation_p.I373T	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	373	LRRNT.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTTTCGGTATCAGTTCAGA	0.443																																						uc004fbx.2		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1117-1119)ATA>ACA		slit and trk like 4 protein precursor							197.0	162.0	174.0					X																	142717807		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717807A>G	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1118T>C	X.37:g.142717807A>G	ENSP00000371198:p.Ile373Thr					SLITRK4_uc004fby.2_Missense_Mutation_p.I373T	p.I373T	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	1494	-	Acute lymphoblastic leukemia(192;6.56e-05)		373			Extracellular (Potential).|LRRNT.		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1118T>C	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	A	0.187	-1.056425	0.01965	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.55234	0.53;0.53;0.53	5.57	1.37	0.22104	Leucine-rich repeat-containing N-terminal (1);	0.645199	0.14809	N	0.297173	T	0.37839	0.1018	L	0.44542	1.39	0.20563	N	0.999882	B	0.02656	0.0	B	0.09377	0.004	T	0.28490	-1.0042	10	0.11182	T	0.66	0.2161	7.9575	0.30051	0.707:0.0:0.293:0.0	.	373	Q8IW52	SLIK4_HUMAN	T	373	ENSP00000371198:I373T;ENSP00000349400:I373T;ENSP00000336627:I373T	ENSP00000336627:I373T	I	-	2	0	SLITRK4	142545473	0.001000	0.12720	0.192000	0.23308	0.990000	0.78478	1.915000	0.39976	-0.038000	0.13624	0.481000	0.45027	ATA		0.443	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		103	76	0	0	0	0	103	76				
AFF2	2334	broad.mit.edu	37	X	148037158	148037158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:148037158G>A	ENST00000370460.2	+	11	2062	c.1583G>A	c.(1582-1584)tGg>tAg	p.W528*	AFF2_ENST00000370457.5_Nonsense_Mutation_p.W495*|AFF2_ENST00000286437.5_Nonsense_Mutation_p.W169*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.W495*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	528					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACCAACAAGTGGCAACTGGAT	0.443																																						uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(1582-1584)TGG>TAG		fragile X mental retardation 2							120.0	127.0	125.0					X																	148037158		2203	4300	6503	SO:0001587	stop_gained	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037158G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1583G>A	X.37:g.148037158G>A	ENSP00000359489:p.Trp528*					AFF2_uc004fcq.2_Nonsense_Mutation_p.W518*|AFF2_uc004fcr.2_Nonsense_Mutation_p.W489*|AFF2_uc011mxb.1_Nonsense_Mutation_p.W493*|AFF2_uc004fcs.2_Nonsense_Mutation_p.W495*|AFF2_uc011mxc.1_Nonsense_Mutation_p.W169*	p.W528*	NM_002025	NP_002016	P51816	AFF2_HUMAN			11	2062	+	Acute lymphoblastic leukemia(192;6.56e-05)		528					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Nonsense_Mutation	SNP	ENST00000370460.2	37	c.1583G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	42	9.710784	0.99245	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	17.5021	0.87734	0.0:0.0:1.0:0.0	.	.	.	.	X	528;495;495;169	.	ENSP00000286437:W169X	W	+	2	0	AFF2	147844858	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.879000	0.92398	2.058000	0.61347	0.513000	0.50165	TGG		0.443	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		115	107	0	0	0	0	115	107				
MAGEA12	4111	broad.mit.edu	37	X	151900745	151900745	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:151900745T>C	ENST00000357916.4	-	2	211	c.56A>G	c.(55-57)cAa>cGa	p.Q19R	CSAG1_ENST00000370287.3_5'Flank|MAGEA12_ENST00000393900.3_Missense_Mutation_p.Q19R|CSAG1_ENST00000452779.2_5'Flank|CSAG1_ENST00000370291.2_5'Flank|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.Q19R	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	19										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTCTCCTTGGGCCTCAAG	0.617																																						uc010ntp.2		NA																	0				skin(1)	1						c.(55-57)CAA>CGA		melanoma antigen family A, 12							43.0	45.0	44.0					X																	151900745		2203	4300	6503	SO:0001583	missense	4111							g.chrX:151900745T>C		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.56A>G	X.37:g.151900745T>C	ENSP00000350592:p.Gln19Arg					MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.Q19R|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank	p.Q19R	NM_005367	NP_005358	P43365	MAGAC_HUMAN			3	410	-	Acute lymphoblastic leukemia(192;6.56e-05)		19					Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	c.56A>G	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.957206	0.00465	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.04234	3.67;3.67;3.67	1.14	-2.28	0.06826	Melanoma associated antigen, MAGE, N-terminal (1);	1.324110	0.04912	N	0.453341	T	0.03011	0.0089	N	0.21097	0.63	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.43956	-0.9359	10	0.05959	T	0.93	.	5.3373	0.15965	0.0:0.3193:0.0:0.6807	.	19	P43365	MAGAC_HUMAN	R	19	ENSP00000350592:Q19R;ENSP00000377447:Q19R;ENSP00000377478:Q19R	ENSP00000350592:Q19R	Q	-	2	0	MAGEA12	151651401	0.000000	0.05858	0.004000	0.12327	0.028000	0.11728	-3.024000	0.00641	-1.220000	0.02594	-1.195000	0.01675	CAA		0.617	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		19	50	0	0	0	0	19	50				
NLGN4Y	22829	broad.mit.edu	37	Y	16953106	16953106	+	3'UTR	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrY:16953106A>T	ENST00000476359.1	+	0	2960							Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked						learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						AAAACAGTACAAATTTACCCC	0.433																																						uc004ftg.2		NA																	0					0						c.(2413-2415)ACA>ACT		neuroligin 4, Y-linked isoform 1																																				SO:0001624	3_prime_UTR_variant	22829				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrY:16953106A>T		CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"""neuroligin 4, Y linked"""			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000476359.1:c.*2957A>T	Y.37:g.16953106A>T						NLGN4Y_uc004fte.2_Silent_p.T637T|NLGN4Y_uc011nas.1_Silent_p.T825T|NLGN4Y_uc004ftf.2_Silent_p.T498T|NLGN4Y_uc004fth.2_Silent_p.T805T	p.T805T	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN			6	2667	+			805			Cytoplasmic (Potential).		F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Silent	SNP	ENST00000476359.1	37	c.2415A>T																																																																																					0.433	NLGN4Y-004	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000089064.2	NM_014893		23	17	0	0	0	0	23	17				
SELE	6401	broad.mit.edu	37	1	169698381	169698381	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:169698381delG	ENST00000333360.7	-	7	1175	c.1036delC	c.(1036-1038)cagfs	p.Q346fs	SELE_ENST00000367779.4_Frame_Shift_Del_p.Q346fs|SELE_ENST00000367776.1_Frame_Shift_Del_p.Q346fs|SELE_ENST00000367780.4_Frame_Shift_Del_p.Q284fs|SELE_ENST00000367774.1_Frame_Shift_Del_p.Q346fs|SELE_ENST00000367781.4_Frame_Shift_Del_p.Q346fs|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Frame_Shift_Del_p.Q284fs|SELE_ENST00000367782.4_Frame_Shift_Del_p.Q346fs|SELE_ENST00000367777.1_Frame_Shift_Del_p.Q346fs	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	346	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	CATTCAACCTGGGCTGGTCCC	0.488																																						uc001ggm.3		NA																	0				ovary(3)|skin(2)	5						c.(1036-1038)CAGfs		selectin E precursor							90.0	84.0	86.0					1																	169698381		2203	4300	6503	SO:0001589	frameshift_variant	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698381delG	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1036delC	1.37:g.169698381delG	ENSP00000331736:p.Gln346fs					C1orf112_uc001ggj.2_Intron	p.Q346fs	NM_000450	NP_000441	P16581	LYAM2_HUMAN			7	1193	-	all_hematologic(923;0.208)		346			Extracellular (Potential).|Sushi 3.		A2RRD6|P16111	Frame_Shift_Del	DEL	ENST00000333360.7	37	c.1036delC	CCDS1283.1																																																																																				0.488	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		31	140	NA	NA	NA	NA	31	140	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs|SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.45																																						uc001gqg.2		NA																	1	Unknown(1)		skin(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(2536-2538)GAAfs		SMG-7 homolog isoform 1																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515266_183515267insA	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs					SMG7_uc010pob.1_Frame_Shift_Ins_p.E829fs|SMG7_uc001gqf.2_Frame_Shift_Ins_p.E800fs|SMG7_uc001gqh.2_Frame_Shift_Ins_p.E800fs|SMG7_uc001gqi.2_Frame_Shift_Ins_p.E758fs|SMG7_uc010poc.1_Frame_Shift_Ins_p.E804fs	p.E846fs	NM_173156	NP_775179	Q92540	SMG7_HUMAN			17	2658_2659	+			846					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.2536_2537insA	CCDS1355.1																																																																																				0.450	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		10	176	NA	NA	NA	NA	10	176	---	---	---	---
OR14A16	284532	broad.mit.edu	37	1	247978121	247978121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:247978121delC	ENST00000357627.1	-	1	910	c.911delG	c.(910-912)ggafs	p.G304fs		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G304E(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GGTGAGCTTTCCCTTTATCAA	0.343																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(910-912)GGAfs		olfactory receptor, family 14, subfamily A,							54.0	52.0	52.0					1																	247978121		2202	4300	6502	SO:0001589	frameshift_variant	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978121delC	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.911delG	1.37:g.247978121delC	ENSP00000350248:p.Gly304fs						p.G304fs	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	911	-			304			Cytoplasmic (Potential).		Q6IF96	Frame_Shift_Del	DEL	ENST00000357627.1	37	c.911delG	CCDS31097.1																																																																																				0.343	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		34	104	NA	NA	NA	NA	34	104	---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7708782	7708782	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:7708782delC	ENST00000256861.6	-	1	152	c.74delG	c.(73-75)ggcfs	p.G25fs	ITIH5_ENST00000397145.2_Frame_Shift_Del_p.G25fs|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Frame_Shift_Del_p.G25fs	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	25					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						CGAAGAGTGGCCCCAGCTCTG	0.766																																						uc001ijq.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(73-75)GGCfs		inter-alpha trypsin inhibitor heavy chain							20.0	23.0	22.0					10																	7708782		2200	4295	6495	SO:0001589	frameshift_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7708782delC			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.74delG	10.37:g.7708782delC	ENSP00000256861:p.Gly25fs					ITIH5_uc001ijr.1_Frame_Shift_Del_p.G25fs	p.G25fs	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			1	153	-			25					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Frame_Shift_Del	DEL	ENST00000256861.6	37	c.74delG																																																																																					0.766	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		18	57	NA	NA	NA	NA	18	57	---	---	---	---
HTR7	3363	broad.mit.edu	37	10	92617175	92617175	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:92617175delC	ENST00000336152.3	-	1	280	c.254delG	c.(253-255)ggcfs	p.G85fs	HTR7_ENST00000371719.2_Frame_Shift_Del_p.G85fs|HTR7_ENST00000371721.3_Frame_Shift_Del_p.G85fs|HTR7_ENST00000277874.6_Frame_Shift_Del_p.G85fs	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	85					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CAGGATGGAGCCGATCACAAC	0.632																																						uc001kha.2		NA																	0				ovary(1)	1						c.(253-255)GGCfs		5-hydroxytryptamine receptor 7 isoform d	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						75.0	65.0	68.0					10																	92617175		2203	4300	6503	SO:0001589	frameshift_variant	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92617175delC	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.254delG	10.37:g.92617175delC	ENSP00000337949:p.Gly85fs					HTR7_uc001kgz.2_Frame_Shift_Del_p.G85fs|HTR7_uc001khb.2_Frame_Shift_Del_p.G85fs	p.G85fs	NM_019859	NP_062873	P34969	5HT7R_HUMAN			1	497	-			85			Helical; Name=1; (By similarity).		B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Frame_Shift_Del	DEL	ENST00000336152.3	37	c.254delG	CCDS7408.1																																																																																				0.632	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		29	74	NA	NA	NA	NA	29	74	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55433099	55433100	+	Frame_Shift_Ins	INS	-	-	A	rs149652704		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:55433099_55433100insA	ENST00000314259.3	+	1	486_487	c.457_458insA	c.(457-459)cacfs	p.H153fs		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGGATTTATGCACGCAATGATA	0.47																																						uc001nht.3		NA																	0				skin(2)	2						c.(457-459)CACfs		olfactory receptor, family 4, subfamily C,																																				SO:0001589	frameshift_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433099_55433100insA	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.458dupA	11.37:g.55433100_55433100dupA	ENSP00000324769:p.His153fs					OR4C6_uc010rik.1_Frame_Shift_Ins_p.H153fs	p.H153fs	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	722_723	+			153			Helical; Name=4; (Potential).		B2RP11|Q6IFD2	Frame_Shift_Ins	INS	ENST00000314259.3	37	c.457_458insA	CCDS31506.1																																																																																				0.470	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		17	171	NA	NA	NA	NA	17	171	---	---	---	---
SLCO2B1	11309	broad.mit.edu	37	11	74873807	74873807	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:74873807delC	ENST00000289575.5	+	2	519	c.124delC	c.(124-126)ccafs	p.P42fs	SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000532236.1_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000428359.2_Frame_Shift_Del_p.P20fs|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000525650.1_Intron	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	42					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	GGACGTGCGGCCAAGTGTGTT	0.582																																						uc001owb.2		NA																	0				ovary(1)|breast(1)	2						c.(124-126)CCAfs		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)						121.0	107.0	112.0					11																	74873807		2200	4293	6493	SO:0001589	frameshift_variant	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74873807delC	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.124delC	11.37:g.74873807delC	ENSP00000289575:p.Pro42fs					SLCO2B1_uc010rrp.1_RNA|SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Intron|SLCO2B1_uc010rrs.1_Intron|SLCO2B1_uc001owc.2_Intron|SLCO2B1_uc001owd.2_Frame_Shift_Del_p.P20fs	p.P42fs	NM_007256	NP_009187	O94956	SO2B1_HUMAN			2	511	+			42			Cytoplasmic (Potential).		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Frame_Shift_Del	DEL	ENST00000289575.5	37	c.124delC	CCDS8235.1																																																																																				0.582	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		60	153	NA	NA	NA	NA	60	153	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328|rs557359374	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)gagggc>ggc	p.E705del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.E441del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586																																						uc002pdm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2113-2118)GAGGGC>GGC		radial spokehead-like 1																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299165_46299167delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2114_2116delAGG	19.37:g.46299174_46299176delCCT	ENSP00000221538:p.Glu705del					RSPH6A_uc002pdl.2_In_Frame_Del_p.E441del	p.E705del	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN			6	2257_2259	-			705			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2114_2116delAGG	CCDS12675.1																																																																																				0.586	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			7	306	NA	NA	NA	NA	7	306	---	---	---	---
SH3RF3	344558	broad.mit.edu	37	2	110036087	110036088	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:110036087_110036088insT	ENST00000309415.6	+	5	1392_1393	c.1392_1393insT	c.(1393-1395)cccfs	p.P465fs		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	465	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGGTCCAGCTGCCCCTCAACGT	0.663																																						uc010ywt.1		NA																	0				ovary(1)	1						c.(1390-1395)CTGCCCfs		SH3 domain containing ring finger 3																																				SO:0001589	frameshift_variant	344558						zinc ion binding	g.chr2:110036087_110036088insT	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	Exception_encountered	2.37:g.110036087_110036088insT	ENSP00000309186:p.Pro465fs						p.L464fs	NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN			5	1392_1393	+			464_465			SH3 3.		A0SDZ7|A8MPR1|Q8NDU1	Frame_Shift_Ins	INS	ENST00000309415.6	37	c.1392_1393insT																																																																																					0.663	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		8	14	NA	NA	NA	NA	8	14	---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222307601	222307602	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:222307601_222307602insA	ENST00000281821.2	-	11	2062_2063	c.2021_2022insT	c.(2020-2022)atgfs	p.M674fs	EPHA4_ENST00000392071.4_Frame_Shift_Ins_p.M623fs|EPHA4_ENST00000409938.1_Frame_Shift_Ins_p.M674fs|EPHA4_ENST00000409854.1_Frame_Shift_Ins_p.M674fs	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	674	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAAACTGTCCCATGATGCTGGC	0.48																																						uc002vmq.2		NA																	0				lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12						c.(2020-2022)ATGfs		ephrin receptor EphA4 precursor																																				SO:0001589	frameshift_variant	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222307601_222307602insA	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2022dupT	2.37:g.222307602_222307602dupA	ENSP00000281821:p.Met674fs					EPHA4_uc002vmr.2_Frame_Shift_Ins_p.M674fs|EPHA4_uc010zlm.1_Frame_Shift_Ins_p.M615fs|EPHA4_uc010zln.1_Frame_Shift_Ins_p.M674fs	p.M674fs	NM_004438	NP_004429	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	11	2063_2064	-		Renal(207;0.0183)	674			Protein kinase.|Cytoplasmic (Potential).		A8K2P1|B2R601|B7Z6Q8|Q2M380	Frame_Shift_Ins	INS	ENST00000281821.2	37	c.2021_2022insT	CCDS2447.1																																																																																				0.480	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			25	183	NA	NA	NA	NA	25	183	---	---	---	---
ZNRF3	84133	broad.mit.edu	37	22	29446545	29446546	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:29446545_29446546insG	ENST00000544604.2	+	8	2551_2552	c.2376_2377insG	c.(2377-2379)gggfs	p.G793fs	ZNRF3_ENST00000406323.3_Frame_Shift_Ins_p.G693fs|ZNRF3_ENST00000332811.4_Frame_Shift_Ins_p.G693fs|ZNRF3_ENST00000402174.1_Frame_Shift_Ins_p.G693fs	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	793					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCGGGGGCGGAGGGGGCAGCGG	0.658																																						uc003aeg.2		NA																	0				ovary(1)	1						c.(2074-2079)GGAGGGfs		zinc and ring finger 3																																				SO:0001589	frameshift_variant	84133					integral to membrane	zinc ion binding	g.chr22:29446545_29446546insG	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2381dupG	22.37:g.29446550_29446550dupG	ENSP00000443824:p.Gly793fs					ZNRF3_uc003aeh.1_Frame_Shift_Ins_p.G692fs	p.G692fs	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN			8	2241_2242	+			792_793			Cytoplasmic (Potential).		B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Frame_Shift_Ins	INS	ENST00000544604.2	37	c.2076_2077insG	CCDS56225.1																																																																																				0.658	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		7	27	NA	NA	NA	NA	7	27	---	---	---	---
KIAA1257	57501	broad.mit.edu	37	3	128711936	128711937	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:128711936_128711937insG	ENST00000265068.5	-	2	378_379	c.211_212insC	c.(211-213)cacfs	p.H71fs	KIAA1257_ENST00000515659.1_5'Flank|KIAA1257_ENST00000511438.1_Frame_Shift_Ins_p.H71fs|KIAA1257_ENST00000510149.1_Intron	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	71										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GGGGACCACGTGGGGCACGTCG	0.574																																						uc003elj.3		NA																	0					0						c.(211-213)CACfs		hypothetical protein LOC57501																																				SO:0001589	frameshift_variant	57501							g.chr3:128711936_128711937insG	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.212dupC	3.37:g.128711940_128711940dupG	ENSP00000265068:p.His71fs					KIAA1257_uc003elg.1_Frame_Shift_Ins_p.H71fs|KIAA1257_uc003eli.3_5'Flank	p.H71fs	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN			2	407_408	-			71					Q8IXY7|Q8N5T4	Frame_Shift_Ins	INS	ENST00000265068.5	37	c.211_212insC	CCDS46905.1																																																																																				0.574	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		105	327	NA	NA	NA	NA	105	327	---	---	---	---
ATP13A5	344905	broad.mit.edu	37	3	193007781	193007782	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:193007781_193007782insG	ENST00000342358.4	-	26	3032_3033	c.2915_2916insC	c.(2914-2916)cctfs	p.P972fs	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	972						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AAAGCAGTAAAGGGGGAGAAAG	0.421																																						uc011bsq.1		NA																	0				ovary(5)|skin(4)|large_intestine(2)	11						c.(2914-2916)CCTfs		ATPase type 13A5																																				SO:0001589	frameshift_variant	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193007781_193007782insG	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2916dupC	3.37:g.193007786_193007786dupG	ENSP00000341942:p.Pro972fs						p.P972fs	NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	26	2915_2916	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		972					Q6UWS4|Q6ZWL0	Frame_Shift_Ins	INS	ENST00000342358.4	37	c.2915_2916insC	CCDS33914.1																																																																																				0.421	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		29	124	NA	NA	NA	NA	29	124	---	---	---	---
DGKQ	1609	broad.mit.edu	37	4	954932	954932	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:954932delG	ENST00000273814.3	-	22	2705	c.2632delC	c.(2632-2634)cgafs	p.R878fs	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	878					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGCGTGACTCGGAAGTAGGAA	0.692																																					Esophageal Squamous(17;537 645 4447 26373)	uc003gbw.2		NA																	0				kidney(1)	1						c.(2632-2634)CGAfs		diacylglycerol kinase, theta							35.0	42.0	40.0					4																	954932		2197	4299	6496	SO:0001589	frameshift_variant	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:954932delG	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2632delC	4.37:g.954932delG	ENSP00000273814:p.Arg878fs					DGKQ_uc010ibn.2_Frame_Shift_Del_p.R865fs	p.R878fs	NM_001347	NP_001338	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		22	2706	-			878					Q6P3W4	Frame_Shift_Del	DEL	ENST00000273814.3	37	c.2632delC	CCDS3342.1																																																																																				0.692	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			18	57	NA	NA	NA	NA	18	57	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)cccaaafs	p.K1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(3670-3675)CCCAAAfs		FAT tumor suppressor 1 precursor																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187558038_187558039insG	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3673dupC	4.37:g.187558044_187558044dupG	ENSP00000406229:p.Lys1225fs	HNSCC(5;0.00058)					p.P1224fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			5	3860_3861	-			1224_1225			Extracellular (Potential).|Cadherin 10.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.3672_3673insC	CCDS47177.1																																																																																				0.361	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		85	500	NA	NA	NA	NA	85	500	---	---	---	---
SLC9A3	6550	broad.mit.edu	37	5	524328	524328	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:524328delC	ENST00000264938.3	-	1	119	c.110delG	c.(109-111)ggcfs	p.G37fs	RP11-310P5.2_ENST00000515085.1_RNA|SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.G37fs	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	37					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCCGCTCTCGCCGTGCGCGCC	0.761																																						uc003jbe.2		NA																	0					0						c.(109-111)GGCfs		solute carrier family 9 (sodium/hydrogen							13.0	13.0	13.0					5																	524328		2151	4229	6380	SO:0001589	frameshift_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:524328delC		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.110delG	5.37:g.524328delC	ENSP00000264938:p.Gly37fs					SLC9A3_uc011clx.1_Frame_Shift_Del_p.G37fs	p.G37fs	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		1	222	-			37			Cytoplasmic (Potential).		B7ZKR2|E9PF67|Q3MIW3	Frame_Shift_Del	DEL	ENST00000264938.3	37	c.110delG	CCDS3855.1																																																																																				0.761	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		4	8	NA	NA	NA	NA	4	8	---	---	---	---
DNAJC21	134218	broad.mit.edu	37	5	34954712	34954712	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:34954712delC	ENST00000342382.4	+	12	1716	c.1489delC	c.(1489-1491)cttfs	p.L497fs	DNAJC21_ENST00000303525.7_Frame_Shift_Del_p.L510fs|DNAJC21_ENST00000382021.2_Frame_Shift_Del_p.L542fs			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	497					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TCGGAATAAACTTTTTGACCA	0.383																																						uc003jjc.2		NA																	0				breast(1)|skin(1)	2						c.(1489-1491)CTTfs		DnaJ homology subfamily A member 5 isoform 2							109.0	107.0	107.0					5																	34954712		2203	4300	6503	SO:0001589	frameshift_variant	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34954712delC		CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1489delC	5.37:g.34954712delC	ENSP00000343728:p.Leu497fs					DNAJC21_uc003jjb.2_Frame_Shift_Del_p.L542fs	p.L497fs	NM_001012339	NP_001012339	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		12	1716	+	all_lung(31;7.08e-05)		497			C2H2-type 2.		Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Frame_Shift_Del	DEL	ENST00000342382.4	37	c.1489delC	CCDS34144.1																																																																																				0.383	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		10	235	NA	NA	NA	NA	10	235	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113168483	113168483	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:113168483delC	ENST00000401783.2	-	38	9733	c.9397delG	c.(9397-9399)gcafs	p.A3133fs	SVEP1_ENST00000297826.5_Frame_Shift_Del_p.A1059fs|SVEP1_ENST00000374469.1_Frame_Shift_Del_p.A3110fs	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3133	Sushi 29. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTCCAGTTGCCACTGCATTG	0.512																																						uc010mtz.2		NA																	0				ovary(7)	7						c.(9397-9399)GCAfs		polydom							100.0	105.0	103.0					9																	113168483		1983	4173	6156	SO:0001589	frameshift_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113168483delC	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9397delG	9.37:g.113168483delC	ENSP00000384917:p.Ala3133fs					SVEP1_uc010mty.2_Frame_Shift_Del_p.A1059fs	p.A3133fs	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			38	9734	-			3133			Sushi 29.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Frame_Shift_Del	DEL	ENST00000401783.2	37	c.9397delG	CCDS48004.1																																																																																				0.512	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				55	139	NA	NA	NA	NA	55	139	---	---	---	---
