#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
CGN	57530	broad.mit.edu	37	1	151491340	151491340	+	Silent	SNP	G	G	A	rs370327717		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:151491340G>A	ENST00000271636.7	+	2	478	c.345G>A	c.(343-345)tcG>tcA	p.S115S		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	109	Head.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGCCCCCTCGCAGAGCAGCA	0.602																																						uc009wmw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(343-345)TCG>TCA		cingulin		G		1,4405	2.1+/-5.4	0,1,2202	35.0	37.0	36.0		345	-8.0	0.0	1		36	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CGN	NM_020770.2		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		115/1204	151491340	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491340G>A	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.345G>A	1.37:g.151491340G>A							p.S115S	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	489	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		109			Interacts with ZO-2.|Head.		A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	ENST00000271636.7	37	c.345G>A	CCDS999.1																																																																																				0.602	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		6	16	0	0	0	0	6	16				
MEF2D	4209	broad.mit.edu	37	1	156450662	156450662	+	Silent	SNP	G	G	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:156450662G>T	ENST00000348159.4	-	4	840	c.360C>A	c.(358-360)gcC>gcA	p.A120A	MEF2D_ENST00000464356.2_Intron|MEF2D_ENST00000368240.2_Silent_p.A120A|MEF2D_ENST00000353795.3_Intron|MEF2D_ENST00000340875.5_Intron|MEF2D_ENST00000360595.3_Silent_p.A120A	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	120					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTCCTCGCTGGCGCGTCGGT	0.692											OREG0013874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fpc.2		NA																	0				ovary(1)	1						c.(358-360)GCC>GCA		myocyte enhancer factor 2D							52.0	59.0	56.0					1																	156450662		2203	4300	6503	SO:0001819	synonymous_variant	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156450662G>T	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.360C>A	1.37:g.156450662G>T			OREG0013874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1778	MEF2D_uc001fpb.2_Silent_p.A120A|MEF2D_uc001fpd.2_Silent_p.A120A|MEF2D_uc001fpe.1_Silent_p.A120A|MEF2D_uc009wsa.2_RNA	p.A120A	NM_005920	NP_005911	Q14814	MEF2D_HUMAN			4	750	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		120					D3DVC0|Q14815|Q5T9U5|Q5T9U6	Silent	SNP	ENST00000348159.4	37	c.360C>A	CCDS1143.1																																																																																				0.692	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		36	55	1	0	2.76e-19	3.49e-19	36	55				
SPTA1	6708	broad.mit.edu	37	1	158607998	158607998	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:158607998C>A	ENST00000368147.4	-	36	5194	c.5014G>T	c.(5014-5016)Gat>Tat	p.D1672Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1672					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)	p.D1672H(1)		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)					GAGAGCAAATCTTCAGCCAAT	0.418																																						uc001fst.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5014-5016)GAT>TAT		spectrin, alpha, erythrocytic 1							76.0	71.0	73.0					1																	158607998		1886	4106	5992	SO:0001583	missense	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.chr1:158607998C>A	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.5014G>T	1.37:g.158607998C>A	ENSP00000357129:p.Asp1672Tyr						p.D1672Y	NM_003126	NP_003117	P02549	SPTA1_HUMAN			36	5213	-	all_hematologic(112;0.0378)		1672			Spectrin 16.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5014G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558711	0.27827	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51574	0.7;0.7	5.36	2.34	0.29019	.	0.516506	0.14488	N	0.316510	T	0.22044	0.0531	L	0.29908	0.895	0.24839	N	0.992475	P	0.40553	0.721	P	0.46389	0.515	T	0.07121	-1.0789	10	0.54805	T	0.06	.	4.834	0.13454	0.0:0.422:0.3376:0.2403	.	1672	P02549	SPTA1_HUMAN	Y	1672	ENSP00000357130:D1672Y;ENSP00000357129:D1672Y	ENSP00000357129:D1672Y	D	-	1	0	SPTA1	156874622	0.998000	0.40836	0.125000	0.21846	0.128000	0.20619	2.948000	0.49066	0.825000	0.34637	0.591000	0.81541	GAT		0.418	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		15	24	1	0	3.41e-10	4.26e-10	15	24				
ITLN1	55600	broad.mit.edu	37	1	160853237	160853237	+	Silent	SNP	G	G	A	rs373845227	byFrequency	TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:160853237G>A	ENST00000326245.3	-	3	253	c.138C>T	c.(136-138)gaC>gaT	p.D46D	ITLN1_ENST00000487531.1_5'Flank	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	46	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TAGGACATTCGTCTTTGATTT	0.423													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19042	0.0		0.0	False		,,,				2504	0.001					uc001fxc.2		NA																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7						c.(136-138)GAC>GAT		intelectin precursor		G		1,4405	2.1+/-5.4	0,1,2202	168.0	148.0	155.0		138	-2.3	0.0	1		155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITLN1	NM_017625.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		46/314	160853237	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160853237G>A	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.138C>T	1.37:g.160853237G>A							p.D46D	NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	254	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		46			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Silent	SNP	ENST00000326245.3	37	c.138C>T	CCDS1211.1																																																																																				0.423	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		21	35	0	0	0	0	21	35				
PRRX1	5396	broad.mit.edu	37	1	170695426	170695426	+	Silent	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:170695426C>T	ENST00000239461.6	+	3	796	c.483C>T	c.(481-483)aaC>aaT	p.N161N	PRRX1_ENST00000497230.2_Silent_p.N161N|PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000367760.3_Silent_p.N161N	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	161					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCAATAAAAACGCTTCCCTCC	0.537																																						uc001ghf.2		NA																	0				ovary(1)	1						c.(481-483)AAC>AAT		paired mesoderm homeobox 1 isoform pmx-1b							87.0	79.0	82.0					1																	170695426		2203	4300	6503	SO:0001819	synonymous_variant	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170695426C>T	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.483C>T	1.37:g.170695426C>T						PRRX1_uc001ghe.2_Silent_p.N161N	p.N161N	NM_022716	NP_073207	P54821	PRRX1_HUMAN			3	530	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		161					B5BUM7|O60807	Silent	SNP	ENST00000239461.6	37	c.483C>T	CCDS1290.1																																																																																				0.537	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		16	27	0	0	0	0	16	27				
KIF21B	23046	broad.mit.edu	37	1	200959778	200959778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:200959778G>A	ENST00000422435.2	-	19	3077	c.2761C>T	c.(2761-2763)Cga>Tga	p.R921*	KIF21B_ENST00000360529.5_Nonsense_Mutation_p.R921*|KIF21B_ENST00000332129.2_Nonsense_Mutation_p.R921*|KIF21B_ENST00000461742.2_Nonsense_Mutation_p.R921*	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	921					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R921*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ATGATCCGTCGCTCCAGGGAC	0.562																																						uc001gvs.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(3)	6						c.(2761-2763)CGA>TGA		kinesin family member 21B							91.0	87.0	88.0					1																	200959778		2203	4300	6503	SO:0001587	stop_gained	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200959778G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2761C>T	1.37:g.200959778G>A	ENSP00000411831:p.Arg921*					KIF21B_uc001gvr.1_Nonsense_Mutation_p.R921*|KIF21B_uc009wzl.1_Nonsense_Mutation_p.R921*|KIF21B_uc010ppn.1_Nonsense_Mutation_p.R921*	p.R921*	NM_017596	NP_060066	O75037	KI21B_HUMAN			19	3078	-			921					B2RP62|B7ZMI0|Q5T4J3	Nonsense_Mutation	SNP	ENST00000422435.2	37	c.2761C>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	36	5.694804	0.96793	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	.	.	.	5.12	1.97	0.26223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6589	0.62354	0.0:0.0:0.4636:0.5364	.	.	.	.	X	921	.	ENSP00000328494:R921X	R	-	1	2	KIF21B	199226401	1.000000	0.71417	0.987000	0.45799	0.950000	0.60333	3.631000	0.54280	0.499000	0.27970	0.561000	0.74099	CGA		0.562	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		6	41	0	0	0	0	6	41				
ARV1	64801	broad.mit.edu	37	1	231131561	231131562	+	Missense_Mutation	DNP	GA	GA	AC			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:231131561_231131562GA>AC	ENST00000310256.2	+	4	561_562	c.504_505GA>AC	c.(502-507)atGAcg>atACcg	p.168_169MT>IP	ARV1_ENST00000366658.2_Missense_Mutation_p.128_129MT>IP|ARV1_ENST00000497753.1_3'UTR	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	168					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		AACGGCCCATGACGGCAAAAAA	0.381																																						uc009xfl.1		NA																	0				breast(2)	2						c.(502-507)ATGACG>ATACCG		ARV1 homolog																																				SO:0001583	missense	64801				sphingolipid metabolic process	integral to membrane		g.chr1:231131561_231131562GA>AC	AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"""ARV1 homolog (yeast)"""			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	Exception_encountered	1.37:g.231131561_231131562delinsAC	ENSP00000312458:p.M168_T169delinsIP					ARV1_uc001huh.2_Missense_Mutation_p.168_169MT>IP	p.168_169MT>IP	NM_022786	NP_073623	Q9H2C2	ARV1_HUMAN		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)	4	533_534	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	168_169					A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Missense_Mutation	DNP	ENST00000310256.2	37	c.504_505GA>AC	CCDS1589.1																																																																																				0.381	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092362.2	NM_022786		8	37	0	0	0	0	8	37				
DNAJC1	64215	broad.mit.edu	37	10	22209789	22209789	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:22209789A>G	ENST00000376980.3	-	4	765	c.475T>C	c.(475-477)Ttc>Ctc	p.F159L	DNAJC1_ENST00000376946.1_3'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	159					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AGAATAATGAACAAGAGTAAT	0.408																																						uc001irc.2		NA																	0				lung(1)	1						c.(475-477)TTC>CTC		DnaJ (Hsp40) homolog, subfamily C, member 1							118.0	117.0	117.0					10																	22209789		2203	4300	6503	SO:0001583	missense	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22209789A>G	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.475T>C	10.37:g.22209789A>G	ENSP00000366179:p.Phe159Leu					DNAJC1_uc001ird.2_Missense_Mutation_p.F45L	p.F159L	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN			4	762	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	159			Helical; (Potential).		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	37	c.475T>C	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304374	0.81136	.	.	ENSG00000136770	ENST00000376980	T	0.50001	0.76	5.31	5.31	0.75309	.	0.044186	0.85682	N	0.000000	T	0.57636	0.2067	L	0.45228	1.405	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.50980	-0.8763	10	0.10377	T	0.69	-5.5688	15.5555	0.76189	1.0:0.0:0.0:0.0	.	159	Q96KC8	DNJC1_HUMAN	L	159	ENSP00000366179:F159L	ENSP00000366179:F159L	F	-	1	0	DNAJC1	22249795	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.232000	0.95325	2.132000	0.65825	0.460000	0.39030	TTC		0.408	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		3	85	0	0	0	0	3	85				
PPA1	5464	broad.mit.edu	37	10	71974336	71974336	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:71974336C>A	ENST00000373232.3	-	5	403	c.304G>T	c.(304-306)Gaa>Taa	p.E102*	PPA1_ENST00000608321.1_Nonsense_Mutation_p.E102*	NM_021129.3	NP_066952.1	Q15181	IPYR_HUMAN	pyrophosphatase (inorganic) 1	102					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|phosphate-containing compound metabolic process (GO:0006796)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2)	10						CCTGGGTCTTCCCAAGTCTAA	0.363																																						uc001jqv.1		NA																	0				breast(1)	1						c.(304-306)GAA>TAA		pyrophosphatase 1							99.0	91.0	93.0					10																	71974336		2203	4300	6503	SO:0001587	stop_gained	5464				diphosphate metabolic process|tRNA aminoacylation for protein translation	cytosol	inorganic diphosphatase activity|magnesium ion binding	g.chr10:71974336C>A	AF154065	CCDS7299.1	10q11.1-q24	2012-10-02	2005-10-07	2005-10-07	ENSG00000180817	ENSG00000180817	3.6.1.1		9226	protein-coding gene	gene with protein product	"""cytosolic inorganic pyrophosphatase"", ""inorganic pyrophosphatase 1"", ""pyrophosphate phospho-hydrolase"""	179030	"""pyrophosphatase (inorganic)"""	PP		10542310, 975879	Standard	NM_021129		Approved	SID6-8061, Ppase, IOPPP, PP1	uc001jqv.1	Q15181	OTTHUMG00000018399	ENST00000373232.3:c.304G>T	10.37:g.71974336C>A	ENSP00000362329:p.Glu102*						p.E102*	NM_021129	NP_066952	Q15181	IPYR_HUMAN			5	411	-			102					Q2M348|Q5SQT7|Q6P7P4|Q9UQJ5|Q9Y5B1	Nonsense_Mutation	SNP	ENST00000373232.3	37	c.304G>T	CCDS7299.1	.	.	.	.	.	.	.	.	.	.	C	37	6.064315	0.97251	.	.	ENSG00000180817	ENST00000373232;ENST00000373230	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.4513	18.0041	0.89204	0.0:1.0:0.0:0.0	.	.	.	.	X	102	.	ENSP00000362327:E102X	E	-	1	0	PPA1	71644342	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.603000	0.82811	2.605000	0.88082	0.591000	0.81541	GAA		0.363	PPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048490.2	NM_021129		10	43	1	0	2.18e-05	2.63e-05	10	43				
SFTPA1	653509	broad.mit.edu	37	10	81373513	81373513	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:81373513A>G	ENST00000398636.3	+	6	529	c.391A>G	c.(391-393)Ata>Gta	p.I131V	SFTPA1_ENST00000372308.3_Missense_Mutation_p.I131V|SFTPA1_ENST00000428376.2_Missense_Mutation_p.I131V|SFTPA1_ENST00000372313.5_Missense_Mutation_p.I72V|SFTPA1_ENST00000419470.2_Missense_Mutation_p.I146V	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	131					lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GCAGGGCTCCATAATGACAGT	0.572																																						uc001kap.2		NA																	0					0						c.(391-393)ATA>GTA		surfactant protein A1 isoform 1							94.0	97.0	96.0					10																	81373513		2203	4296	6499	SO:0001583	missense	653509				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding	g.chr10:81373513A>G	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"""Collectins"""	10798	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A1A"""	178630	"""surfactant, pulmonary-associated protein A1"""	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.391A>G	10.37:g.81373513A>G	ENSP00000381633:p.Ile131Val					SFTPA1_uc001kaq.2_Missense_Mutation_p.I131V|SFTPA1_uc009xry.2_Missense_Mutation_p.I146V|SFTPA1_uc001kar.2_Missense_Mutation_p.I131V|SFTPA1_uc010qlt.1_Missense_Mutation_p.I72V|SFTPA1_uc009xrz.2_Missense_Mutation_p.I61V|SFTPA1_uc009xsa.2_Missense_Mutation_p.I131V|SFTPA1_uc009xsf.2_RNA	p.I131V	NM_005411	NP_005402	Q8IWL2	SFTA1_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		6	512	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		131					A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Missense_Mutation	SNP	ENST00000398636.3	37	c.391A>G	CCDS44445.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.204577	0.00296	.	.	ENSG00000122852	ENST00000372308;ENST00000398636;ENST00000428376;ENST00000372313;ENST00000419470;ENST00000394569;ENST00000429958;ENST00000439264	D;D;D;T;D;D;D	0.88201	-2.11;-2.09;-2.09;2.95;-2.03;-2.35;-2.35	2.6	-5.2	0.02823	C-type lectin fold (2);C-type lectin (2);	1.212850	0.05502	N	0.558670	T	0.79088	0.4387	L	0.42245	1.32	0.09310	N	1	B;B;B	0.18610	0.007;0.029;0.003	B;B;B	0.16289	0.007;0.015;0.002	T	0.61969	-0.6953	10	0.15499	T	0.54	0.2308	1.6632	0.02796	0.3404:0.1469:0.3683:0.1444	.	131;146;131	Q8IWL1;G5E9J3;Q8IWL2	SFPA2_HUMAN;.;SFTA1_HUMAN	V	131;131;131;72;146;131;131;131	ENSP00000361382:I131V;ENSP00000381633:I131V;ENSP00000411102:I131V;ENSP00000361387:I72V;ENSP00000397082:I146V;ENSP00000395527:I131V;ENSP00000401649:I131V	ENSP00000361382:I131V	I	+	1	0	SFTPA1	81043519	0.070000	0.21116	0.001000	0.08648	0.008000	0.06430	0.783000	0.26802	-1.606000	0.01591	0.247000	0.18012	ATA		0.572	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411		24	146	0	0	0	0	24	146				
ACTA2	59	broad.mit.edu	37	10	90707026	90707026	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:90707026C>T	ENST00000458208.1	-	3	721	c.247G>A	c.(247-249)Gac>Aac	p.D83N	ACTA2_ENST00000480297.1_5'UTR|STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Missense_Mutation_p.D83N	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	83					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TTTTCCATGTCGTCCCAGTTG	0.502																																						uc001kfp.2		NA																	0					0						c.(247-249)GAC>AAC		alpha 2 actin							343.0	276.0	299.0					10																	90707026		2203	4300	6503	SO:0001583	missense	59				response to virus	cytosol	ATP binding	g.chr10:90707026C>T	X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.247G>A	10.37:g.90707026C>T	ENSP00000402373:p.Asp83Asn					STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Missense_Mutation_p.D38N|ACTA2_uc001kfq.2_Missense_Mutation_p.D83N|ACTA2_uc010qmz.1_Missense_Mutation_p.D83N	p.D83N	NM_001613	NP_001604	P62736	ACTA_HUMAN		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)	3	363	-		Colorectal(252;0.0161)	83					B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	ENST00000458208.1	37	c.247G>A	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328321	0.81690	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901;ENST00000415557;ENST00000458159	D;D;D;D	0.97303	-4.33;-4.33;-2.55;-2.55	5.57	5.57	0.84162	.	0.115998	0.56097	D	0.000030	D	0.98359	0.9455	M	0.91717	3.235	0.58432	D	0.999999	D;B	0.69078	0.997;0.134	P;B	0.54544	0.755;0.372	D	0.99395	1.0926	10	0.87932	D	0	.	18.1069	0.89523	0.0:1.0:0.0:0.0	.	83;83	B7Z6I1;P62736	.;ACTA_HUMAN	N	83;83;38;83;83	ENSP00000224784:D83N;ENSP00000402373:D83N;ENSP00000396730:D83N;ENSP00000398239:D83N	ENSP00000224784:D83N	D	-	1	0	ACTA2	90697006	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.606000	0.88127	0.655000	0.94253	GAC		0.502	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	NM_001613		28	141	0	0	0	0	28	141				
PDE6C	5146	broad.mit.edu	37	10	95415576	95415576	+	Silent	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:95415576C>T	ENST00000371447.3	+	16	2133	c.1995C>T	c.(1993-1995)ttC>ttT	p.F665F		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	665					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	TTCATTTGTTCGAGGTCGCAA	0.348																																						uc001kiu.3		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1993-1995)TTC>TTT		phosphodiesterase 6C							163.0	162.0	162.0					10																	95415576		2203	4300	6503	SO:0001819	synonymous_variant	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95415576C>T	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1995C>T	10.37:g.95415576C>T							p.F665F	NM_006204	NP_006195	P51160	PDE6C_HUMAN			16	2133	+		Colorectal(252;0.123)	665					A6NCR6|Q5VY29	Silent	SNP	ENST00000371447.3	37	c.1995C>T	CCDS7429.1																																																																																				0.348	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		52	113	0	0	0	0	52	113				
RRP12	23223	broad.mit.edu	37	10	99130758	99130758	+	Silent	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:99130758G>C	ENST00000370992.4	-	21	2535	c.2424C>G	c.(2422-2424)ctC>ctG	p.L808L	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Silent_p.L747L|RRP12_ENST00000315563.6_Silent_p.L708L|RRP12_ENST00000536831.1_Silent_p.L526L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	808						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCTGCACGAAGAGGGCCCCGG	0.667																																						uc001knf.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2422-2424)CTC>CTG		ribosomal RNA processing 12 homolog isoform 1							37.0	39.0	38.0					10																	99130758		2203	4300	6503	SO:0001819	synonymous_variant	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99130758G>C		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2424C>G	10.37:g.99130758G>C						RRP12_uc009xvl.2_5'UTR|RRP12_uc009xvm.2_Silent_p.L526L|RRP12_uc010qou.1_Silent_p.L747L|RRP12_uc009xvn.2_Silent_p.L708L	p.L808L	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	21	2563	-		Colorectal(252;0.162)	808					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	c.2424C>G	CCDS7457.1																																																																																				0.667	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		8	30	0	0	0	0	8	30				
SORCS3	22986	broad.mit.edu	37	10	106960922	106960922	+	Silent	SNP	T	T	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:106960922T>A	ENST00000369701.3	+	16	2399	c.2172T>A	c.(2170-2172)cgT>cgA	p.R724R	SORCS3_ENST00000369699.4_Silent_p.R10R	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	724					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)		TCAAGAAACGTAAGCCAGGAG	0.468																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2170-2172)CGT>CGA		VPS10 domain receptor protein SORCS 3 precursor							114.0	100.0	105.0					10																	106960922		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106960922T>A	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.2172T>A	10.37:g.106960922T>A						SORCS3_uc010qqz.1_RNA	p.R724R	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)	16	2399	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	724			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.2172T>A	CCDS7558.1																																																																																				0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		10	71	0	0	0	0	10	71				
VWA2	340706	broad.mit.edu	37	10	116045996	116045996	+	Silent	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:116045996T>C	ENST00000392982.3	+	11	1546	c.1296T>C	c.(1294-1296)cgT>cgC	p.R432R	VWA2_ENST00000603594.1_Silent_p.R432R			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	432	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CGGCAGAGCGTGGCTTCGGGA	0.662																																						uc001lbl.1		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(1294-1296)CGT>CGC		von Willebrand factor A domain containing 2							57.0	49.0	52.0					10																	116045996		2203	4299	6502	SO:0001819	synonymous_variant	340706					extracellular region		g.chr10:116045996T>C	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1296T>C	10.37:g.116045996T>C						VWA2_uc001lbk.1_Silent_p.R432R|VWA2_uc009xyf.1_Silent_p.R128R	p.R432R	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	11	1617	+			432			VWFA 2.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Silent	SNP	ENST00000392982.3	37	c.1296T>C																																																																																					0.662	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		13	90	0	0	0	0	13	90				
IKZF5	64376	broad.mit.edu	37	10	124753508	124753508	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:124753508T>G	ENST00000368886.5	-	5	1368	c.1048A>C	c.(1048-1050)Acc>Ccc	p.T350P	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		GGGGCTGGGGTGCTTGGCTGG	0.547																																						uc001lha.2		NA																	0					0						c.(1048-1050)ACC>CCC		zinc finger protein, subfamily 1A, 5							52.0	61.0	58.0					10																	124753508		2081	4225	6306	SO:0001583	missense	64376				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:124753508T>G	AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.1048A>C	10.37:g.124753508T>G	ENSP00000357881:p.Thr350Pro					IKZF5_uc001lgz.2_Missense_Mutation_p.T188P	p.T350P	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)	5	1347	-		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)	350					B3KVH7|D3DRE7|Q9H2T0	Missense_Mutation	SNP	ENST00000368886.5	37	c.1048A>C	CCDS41574.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299879	0.81136	.	.	ENSG00000095574	ENST00000368886	T	0.05855	3.38	6.03	6.03	0.97812	.	0.043122	0.85682	N	0.000000	T	0.18964	0.0455	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.64237	0.923	T	0.00168	-1.1963	10	0.44086	T	0.13	-16.6324	16.5582	0.84512	0.0:0.0:0.0:1.0	.	350	Q9H5V7	IKZF5_HUMAN	P	350	ENSP00000357881:T350P	ENSP00000357881:T350P	T	-	1	0	IKZF5	124743498	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.451000	0.80668	2.308000	0.77769	0.533000	0.62120	ACC		0.547	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050820.2	NM_022466		10	68	0	0	0	0	10	68				
OR51I2	390064	broad.mit.edu	37	11	5475596	5475596	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:5475596G>C	ENST00000341449.2	+	1	959	c.878G>C	c.(877-879)aGc>aCc	p.S293T	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	293					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(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCATTTATAGCGCCAAGACA	0.443																																						uc010qzf.1		NA																	0				ovary(2)|skin(2)	4						c.(877-879)AGC>ACC		olfactory receptor, family 51, subfamily I,							145.0	141.0	142.0					11																	5475596		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475596G>C	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.878G>C	11.37:g.5475596G>C	ENSP00000341987:p.Ser293Thr					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.S293T	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	878	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	293			Helical; Name=7; (Potential).		Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.878G>C	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.070019	0.36566	.	.	ENSG00000187918	ENST00000341449	T	0.37752	1.18	5.45	5.45	0.79879	.	0.081322	0.53938	D	0.000041	T	0.45155	0.1328	M	0.78223	2.4	0.33267	D	0.560441	P	0.47106	0.89	B	0.42625	0.393	T	0.63620	-0.6596	10	0.51188	T	0.08	.	16.8328	0.85949	0.0:0.0:1.0:0.0	.	293	Q9H344	O51I2_HUMAN	T	293	ENSP00000341987:S293T	ENSP00000341987:S293T	S	+	2	0	OR51I2	5432172	0.576000	0.26700	0.919000	0.36401	0.189000	0.23516	3.699000	0.54778	2.838000	0.97847	0.563000	0.77884	AGC		0.443	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		8	151	0	0	0	0	8	151				
CNGA4	1262	broad.mit.edu	37	11	6261383	6261383	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:6261383C>T	ENST00000379936.2	+	4	474	c.359C>T	c.(358-360)gCt>gTt	p.A120V	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	120					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGGACCTGGCTTCCCTGATG	0.627																																						uc001mco.2		NA																	0				skin(1)	1						c.(358-360)GCT>GTT		cyclic nucleotide gated channel alpha 4							138.0	133.0	135.0					11																	6261383		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261383C>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.359C>T	11.37:g.6261383C>T	ENSP00000369268:p.Ala120Val					CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.A80V	p.A120V	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	466	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	120			Helical; Name=H3; (Potential).			Missense_Mutation	SNP	ENST00000379936.2	37	c.359C>T	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941436	0.34283	.	.	ENSG00000132259	ENST00000379936	D	0.98455	-4.94	5.15	0.562	0.17290	Ion transport (1);	0.778302	0.12707	N	0.445883	D	0.92364	0.7577	N	0.05510	-0.035	0.24946	N	0.991822	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	D	0.85443	0.1156	10	0.20519	T	0.43	.	8.31	0.32066	0.0:0.5226:0.0:0.4774	.	120;80	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	V	120	ENSP00000369268:A120V	ENSP00000369268:A120V	A	+	2	0	CNGA4	6217959	0.000000	0.05858	1.000000	0.80357	0.941000	0.58515	-0.071000	0.11505	0.281000	0.22233	-0.140000	0.14226	GCT		0.627	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		56	141	0	0	0	0	56	141				
OR10A6	390093	broad.mit.edu	37	11	7949672	7949672	+	Missense_Mutation	SNP	C	C	T	rs145835770		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:7949672C>T	ENST00000309838.2	-	1	537	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E180K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTGGGGTTTCACAAGATATA	0.363																																						uc010rbh.1		NA																	1	Substitution - Missense(1)	p.E180K(1)	skin(1)	ovary(1)|skin(1)	2						c.(538-540)GAA>AAA		olfactory receptor, family 10, subfamily A,							43.0	43.0	43.0					11																	7949672		2201	4296	6497	SO:0001583	missense	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7949672C>T	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.538G>A	11.37:g.7949672C>T	ENSP00000312470:p.Glu180Lys						p.E180K	NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	538	-			180			Extracellular (Potential).		Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	c.538G>A	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415158	0.62511	.	.	ENSG00000175393	ENST00000309838	T	0.00202	8.56	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.148927	0.30311	N	0.009914	T	0.00754	0.0025	M	0.91038	3.17	0.32512	N	0.537453	D	0.76494	0.999	D	0.87578	0.998	T	0.29701	-1.0003	10	0.72032	D	0.01	.	14.6962	0.69124	0.0:1.0:0.0:0.0	.	180	Q8NH74	O10A6_HUMAN	K	180	ENSP00000312470:E180K	ENSP00000312470:E180K	E	-	1	0	OR10A6	7906248	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	5.484000	0.66844	2.405000	0.81733	0.655000	0.94253	GAA		0.363	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		6	33	0	0	0	0	6	33				
OSBP	5007	broad.mit.edu	37	11	59376031	59376031	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:59376031C>G	ENST00000263847.1	-	3	1227	c.748G>C	c.(748-750)Gag>Cag	p.E250Q		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	250					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TCATTGCTCTCAGCAGGCAAC	0.488																																						uc001noc.1		NA																	0				large_intestine(1)	1						c.(748-750)GAG>CAG		oxysterol binding protein							173.0	149.0	157.0					11																	59376031		2201	4295	6496	SO:0001583	missense	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59376031C>G	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.748G>C	11.37:g.59376031C>G	ENSP00000263847:p.Glu250Gln						p.E250Q	NM_002556	NP_002547	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	3	1228	-		all_epithelial(135;0.000236)	250					Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	c.748G>C	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198657	0.79015	.	.	ENSG00000110048	ENST00000263847	D	0.87412	-2.25	5.89	5.89	0.94794	.	0.047854	0.85682	D	0.000000	D	0.90188	0.6933	M	0.85197	2.74	0.80722	D	1	P	0.34757	0.467	B	0.38683	0.279	D	0.88258	0.2921	10	0.33141	T	0.24	-27.9385	19.8467	0.96710	0.0:1.0:0.0:0.0	.	250	P22059	OSBP1_HUMAN	Q	250	ENSP00000263847:E250Q	ENSP00000263847:E250Q	E	-	1	0	OSBP	59132607	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	4.578000	0.60929	2.789000	0.95967	0.655000	0.94253	GAG		0.488	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			29	65	0	0	0	0	29	65				
MS4A5	64232	broad.mit.edu	37	11	60197290	60197290	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:60197290A>T	ENST00000300190.2	+	1	229	c.143A>T	c.(142-144)aAa>aTa	p.K48I	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	48						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						AGAAAAATGAAAATCTTAGGG	0.418																																						uc001npo.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(142-144)AAA>ATA		membrane-spanning 4-domains, subfamily A, member							56.0	61.0	59.0					11																	60197290		2203	4300	6503	SO:0001583	missense	64232					integral to membrane	receptor activity	g.chr11:60197290A>T	AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.143A>T	11.37:g.60197290A>T	ENSP00000300190:p.Lys48Ile						p.K48I	NM_023945	NP_076434	Q9H3V2	MS4A5_HUMAN			1	229	+			48			Cytoplasmic (Potential).		Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	c.143A>T	CCDS7987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.43|12.43	1.936093|1.936093	0.34189|0.34189	.|.	.|.	ENSG00000166930|ENSG00000166930	ENST00000528905;ENST00000528093|ENST00000300190	.|T	.|0.16196	.|2.36	4.66|4.66	2.39|2.39	0.29439|0.29439	.|.	.|0.380794	.|0.27595	.|N	.|0.018664	T|T	0.20536|0.20536	0.0494|0.0494	L|L	0.32530|0.32530	0.975|0.975	0.23886|0.23886	N|N	0.996566|0.996566	.|D	.|0.58268	.|0.982	.|P	.|0.58013	.|0.831	T|T	0.02654|0.02654	-1.1128|-1.1128	5|10	.|0.87932	.|D	.|0	-5.4078|-5.4078	5.6761|5.6761	0.17749|0.17749	0.7875:0.0:0.2125:0.0|0.7875:0.0:0.2125:0.0	.|.	.|48	.|Q9H3V2	.|MS4A5_HUMAN	D|I	21;14|48	.|ENSP00000300190:K48I	.|ENSP00000300190:K48I	E|K	+|+	3|2	2|0	MS4A5|MS4A5	59953866|59953866	0.983000|0.983000	0.35010|0.35010	0.951000|0.951000	0.38953|0.38953	0.098000|0.098000	0.18820|0.18820	1.561000|1.561000	0.36342|0.36342	0.924000|0.924000	0.37069|0.37069	-0.456000|-0.456000	0.05471|0.05471	GAA|AAA		0.418	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1			4	73	0	0	0	0	4	73				
AHNAK	79026	broad.mit.edu	37	11	62286423	62286423	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:62286423C>G	ENST00000378024.4	-	5	15740	c.15466G>C	c.(15466-15468)Gag>Cag	p.E5156Q	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5156					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTCACCCTCTATTTTTGGC	0.507																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(15466-15468)GAG>CAG		AHNAK nucleoprotein isoform 1							92.0	94.0	93.0					11																	62286423		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62286423C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15466G>C	11.37:g.62286423C>G	ENSP00000367263:p.Glu5156Gln					AHNAK_uc001ntk.1_Intron	p.E5156Q	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	15766	-		Melanoma(852;0.155)	5156					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.15466G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303639	0.60305	.	.	ENSG00000124942	ENST00000378024	T	0.00840	5.63	4.7	4.7	0.59300	.	0.089889	0.43416	D	0.000569	T	0.06188	0.0160	M	0.84433	2.695	0.35957	D	0.834364	D	0.69078	0.997	D	0.81914	0.995	T	0.51872	-0.8650	10	0.22706	T	0.39	-22.0323	17.6094	0.88048	0.0:1.0:0.0:0.0	.	5156	Q09666	AHNK_HUMAN	Q	5156	ENSP00000367263:E5156Q	ENSP00000367263:E5156Q	E	-	1	0	AHNAK	62042999	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	3.531000	0.53546	2.301000	0.77427	0.643000	0.83706	GAG		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		11	68	0	0	0	0	11	68				
ANO1	55107	broad.mit.edu	37	11	69933944	69933944	+	Silent	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:69933944C>T	ENST00000355303.5	+	2	500	c.195C>T	c.(193-195)atC>atT	p.I65I	ANO1_ENST00000398543.2_5'UTR|ANO1_ENST00000316296.5_Silent_p.I37I|ANO1_ENST00000530676.1_5'UTR|ANO1_ENST00000538023.1_Silent_p.I65I	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	65					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	TGGACTACATCCTGGTGTACC	0.617																																						uc001opj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(193-195)ATC>ATT		anoctamin 1, calcium activated chloride channel							36.0	40.0	39.0					11																	69933944		2038	4180	6218	SO:0001819	synonymous_variant	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69933944C>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.195C>T	11.37:g.69933944C>T						ANO1_uc001opk.1_Silent_p.I37I|ANO1_uc001opl.1_RNA	p.I65I	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			2	500	+			65			Cytoplasmic (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	c.195C>T	CCDS44663.1																																																																																				0.617	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		6	27	0	0	0	0	6	27				
FCHSD2	9873	broad.mit.edu	37	11	72554523	72554523	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:72554523C>T	ENST00000409418.4	-	15	1881	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K	FCHSD2_ENST00000409853.1_Missense_Mutation_p.E444K|FCHSD2_ENST00000409263.1_5'UTR|ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000458644.2_Missense_Mutation_p.E364K|FCHSD2_ENST00000409314.1_Missense_Mutation_p.E524K|FCHSD2_ENST00000311172.7_Missense_Mutation_p.E444K	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	500	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.									endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TCTCCATCTTCAATCACTTCT	0.403																																						uc009ytl.2		NA																	0				ovary(1)	1						c.(1498-1500)GAA>AAA		FCH and double SH3 domains 2							231.0	193.0	206.0					11																	72554523		2200	4293	6493	SO:0001583	missense	9873						protein binding	g.chr11:72554523C>T	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1498G>A	11.37:g.72554523C>T	ENSP00000386722:p.Glu500Lys					FCHSD2_uc010rrg.1_Missense_Mutation_p.E364K|FCHSD2_uc001oth.3_Missense_Mutation_p.E444K|FCHSD2_uc001oti.2_Missense_Mutation_p.E459K|ATG16L2_uc009ytj.1_3'UTR	p.E500K	NM_014824	NP_055639	O94868	FCSD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.3e-05)		15	1719	-			500			SH3 1.		B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	ENST00000409418.4	37	c.1498G>A	CCDS8218.2	.	.	.	.	.	.	.	.	.	.	C	31	5.080861	0.94050	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644;ENST00000409853	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	5.71	5.71	0.89125	Src homology-3 domain (4);	0.049178	0.85682	D	0.000000	T	0.62097	0.2400	M	0.69185	2.1	0.80722	D	1	P;D;D	0.55605	0.714;0.961;0.972	B;P;P	0.53912	0.392;0.63;0.737	T	0.62238	-0.6896	10	0.51188	T	0.08	-28.2352	18.8555	0.92251	0.0:1.0:0.0:0.0	.	364;500;444	E7ENZ2;O94868;O94868-3	.;FCSD2_HUMAN;.	K	444;524;500;364;444	ENSP00000308978:E444K;ENSP00000386987:E524K;ENSP00000386722:E500K;ENSP00000402972:E364K;ENSP00000386314:E444K	ENSP00000308978:E444K	E	-	1	0	FCHSD2	72232171	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.463000	0.80869	2.709000	0.92574	0.655000	0.94253	GAA		0.403	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824		19	98	0	0	0	0	19	98				
FAT3	120114	broad.mit.edu	37	11	92085885	92085885	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:92085885C>T	ENST00000298047.6	+	1	624	c.607C>T	c.(607-609)Ctc>Ttc	p.L203F	FAT3_ENST00000541502.1_Missense_Mutation_p.L203F|FAT3_ENST00000525166.1_Missense_Mutation_p.L53F|FAT3_ENST00000409404.2_Missense_Mutation_p.L203F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	203	Cadherin 2. {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)				TAAAGTTGATCTCTTTTCAGT	0.408										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(607-609)CTC>TTC		FAT tumor suppressor homolog 3							64.0	62.0	62.0					11																	92085885		1840	4097	5937	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085885C>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.607C>T	11.37:g.92085885C>T	ENSP00000298047:p.Leu203Phe	TCGA Ovarian(4;0.039)					p.L203F	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	624	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	203			Cadherin 2.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.607C>T		.	.	.	.	.	.	.	.	.	.	C	15.44	2.834285	0.50951	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.26	5.26	0.73747	.	.	.	.	.	T	0.64918	0.2642	M	0.62723	1.935	0.34267	D	0.680529	D	0.89917	1.0	D	0.91635	0.999	T	0.73630	-0.3922	9	0.54805	T	0.06	.	13.2273	0.59922	0.1588:0.8412:0.0:0.0	.	203	Q8TDW7-3	.	F	203;203;203;53	ENSP00000298047:L203F;ENSP00000387040:L203F;ENSP00000443786:L203F;ENSP00000432586:L53F	ENSP00000298047:L203F	L	+	1	0	FAT3	91725533	0.939000	0.31865	1.000000	0.80357	0.972000	0.66771	2.002000	0.40835	2.607000	0.88179	0.655000	0.94253	CTC		0.408	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		14	76	0	0	0	0	14	76				
OAF	220323	broad.mit.edu	37	11	120082137	120082137	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:120082137G>A	ENST00000328965.4	+	1	663	c.150G>A	c.(148-150)gcG>gcA	p.A50A	OAF_ENST00000531220.1_5'UTR	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	50						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GCCTGCAGGCGGACAGCGACG	0.726																																						uc001pxb.2		NA																	0					0						c.(148-150)GCG>GCA		OAF homolog precursor							15.0	14.0	14.0					11																	120082137		2176	4266	6442	SO:0001819	synonymous_variant	220323							g.chr11:120082137G>A	BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.150G>A	11.37:g.120082137G>A							p.A50A	NM_178507	NP_848602	Q86UD1	OAF_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)	1	391	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	50						Silent	SNP	ENST00000328965.4	37	c.150G>A	CCDS8430.1																																																																																				0.726	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	NM_178507		3	13	0	0	0	0	3	13				
ARHGAP32	9743	broad.mit.edu	37	11	128839602	128839602	+	Missense_Mutation	SNP	C	C	T	rs138669502		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:128839602C>T	ENST00000310343.9	-	22	5463	c.5464G>A	c.(5464-5466)Gag>Aag	p.E1822K	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E1473K|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E1473K	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1822	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TCCTCTCCCTCGGGACTGATG	0.577																																						uc009zcp.2		NA																	0				lung(3)|ovary(2)	5						c.(5464-5466)GAG>AAG		Rho GTPase-activating protein isoform 1		C	LYS/GLU,LYS/GLU	1,4401	2.1+/-5.4	0,1,2200	83.0	78.0	80.0		5464,4417	5.1	0.6	11	dbSNP_134	80	0,8594		0,0,4297	no	missense,missense	ARHGAP32	NM_001142685.1,NM_014715.3	56,56	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	1822/2088,1473/1739	128839602	1,12995	2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839602C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5464G>A	11.37:g.128839602C>T	ENSP00000310561:p.Glu1822Lys					ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.E781K|ARHGAP32_uc001qez.2_Missense_Mutation_p.E1473K	p.E1822K	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			22	5464	-			1822			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.5464G>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332042	0.81801	2.27E-4	0.0	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.10382	2.9;2.88;2.88	6.07	5.14	0.70334	.	0.230857	0.43416	D	0.000573	T	0.14657	0.0354	M	0.62723	1.935	0.41599	D	0.988844	P	0.52316	0.952	B	0.38655	0.278	T	0.03193	-1.1062	10	0.72032	D	0.01	.	17.1923	0.86883	0.0:0.8739:0.1261:0.0	.	1822	A7KAX9	RHG32_HUMAN	K	1822;1473;1473	ENSP00000310561:E1822K;ENSP00000376425:E1473K;ENSP00000432862:E1473K	ENSP00000310561:E1822K	E	-	1	0	ARHGAP32	128344812	0.995000	0.38212	0.625000	0.29200	0.954000	0.61252	4.229000	0.58625	1.516000	0.48900	0.655000	0.94253	GAG		0.577	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		17	69	0	0	0	0	17	69				
CACNA2D4	93589	broad.mit.edu	37	12	1993939	1993939	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:1993939A>T	ENST00000382722.5	-	11	1629	c.1267T>A	c.(1267-1269)Tgt>Agt	p.C423S	CACNA2D4_ENST00000586184.1_Missense_Mutation_p.C423S|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.C423S|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.C359S|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.C359S|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.C339S	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	423	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTCACCTTACAGTCTGGCCAG	0.582																																					Colon(2;101 179 21030 23310 28141)	uc001qjp.2		NA																	0				ovary(1)	1						c.(1267-1269)TGT>AGT		voltage-gated calcium channel alpha(2)delta-4							48.0	52.0	51.0					12																	1993939		1969	4126	6095	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1993939A>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1267T>A	12.37:g.1993939A>T	ENSP00000372169:p.Cys423Ser					CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.C342S	p.C423S	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	11	1498	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	423			VWFA.|Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.1267T>A	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.084958	0.36758	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.06528	3.29	5.25	3.42	0.39159	von Willebrand factor, type A (3);	0.101870	0.64402	D	0.000002	T	0.04724	0.0128	N	0.19112	0.55	0.42249	D	0.991968	B;B	0.19583	0.002;0.037	B;B	0.27076	0.001;0.076	T	0.39981	-0.9587	10	0.51188	T	0.08	.	6.1989	0.20565	0.1551:0.0:0.6954:0.1494	.	423;423	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	S	359;423;423	ENSP00000372169:C423S	ENSP00000280663:C423S	C	-	1	0	CACNA2D4	1864200	0.984000	0.35163	0.927000	0.36925	0.609000	0.37215	2.232000	0.43018	0.606000	0.29965	-0.385000	0.06624	TGT		0.582	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			7	20	0	0	0	0	7	20				
SLC38A1	81539	broad.mit.edu	37	12	46591510	46591510	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:46591510C>G	ENST00000398637.5	-	16	2049	c.1355G>C	c.(1354-1356)aGa>aCa	p.R452T	SLC38A1_ENST00000549633.1_5'Flank|SLC38A1_ENST00000546893.1_Missense_Mutation_p.R452T|SLC38A1_ENST00000552197.1_Missense_Mutation_p.R452T|SLC38A1_ENST00000549049.1_Missense_Mutation_p.R452T|SLC38A1_ENST00000439706.1_Missense_Mutation_p.R452T	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	452					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TACCCAAATTCTTTGAGTTCC	0.328																																						uc001rpa.2		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1354-1356)AGA>ACA		amino acid transporter system A1							147.0	150.0	150.0					12																	46591510		1804	4083	5887	SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46591510C>G	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.1355G>C	12.37:g.46591510C>G	ENSP00000381634:p.Arg452Thr					SLC38A1_uc001rpb.2_Missense_Mutation_p.R452T|SLC38A1_uc001rpc.2_Missense_Mutation_p.R452T|SLC38A1_uc001rpd.2_Missense_Mutation_p.R452T|SLC38A1_uc001rpe.2_Missense_Mutation_p.R452T|SLC38A1_uc009zkj.1_Missense_Mutation_p.R452T	p.R452T	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		16	1613	-	Lung SC(27;0.137)|Renal(347;0.236)		452			Cytoplasmic (Potential).		Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	c.1355G>C	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131080	0.77549	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02301	4.45;4.45;4.45;4.45;4.35	5.95	4.13	0.48395	.	.	.	.	.	T	0.04543	0.0124	L	0.27053	0.805	0.34800	D	0.736622	B;D	0.56287	0.277;0.975	B;P	0.57371	0.157;0.819	T	0.53837	-0.8382	9	0.40728	T	0.16	-0.242	11.4737	0.50284	0.0:0.8593:0.0:0.1407	.	452;452	F8VX04;Q9H2H9	.;S38A1_HUMAN	T	452	ENSP00000449607:R452T;ENSP00000398142:R452T;ENSP00000381634:R452T;ENSP00000447853:R452T;ENSP00000449756:R452T	ENSP00000381634:R452T	R	-	2	0	SLC38A1	44877777	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	2.050000	0.41297	1.537000	0.49254	0.650000	0.86243	AGA		0.328	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			19	60	0	0	0	0	19	60				
SLC11A2	4891	broad.mit.edu	37	12	51382165	51382165	+	Splice_Site	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:51382165C>T	ENST00000262051.7	-	16	1716	c.1629G>A	c.(1627-1629)acG>acA	p.T543T	SLC11A2_ENST00000541174.2_Silent_p.T543T|SLC11A2_ENST00000545993.2_Silent_p.T539T|SLC11A2_ENST00000394904.3_Silent_p.T572T|SLC11A2_ENST00000547198.1_Splice_Site_p.T543T|SLC11A2_ENST00000262052.5_Silent_p.T543T|SLC11A2_ENST00000547688.1_Silent_p.T572T|SLC11A2_ENST00000546743.1_Silent_p.T464T	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	543					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						AGATGCTTACCGTATGCCCAC	0.493																																						uc001rxe.3		NA																	0				large_intestine(1)	1						c.(1627-1629)ACG>ACA		solute carrier family 11 (proton-coupled							162.0	133.0	143.0					12																	51382165		2203	4300	6503	SO:0001630	splice_region_variant	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51382165C>T	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.1629+1G>A	12.37:g.51382165C>T						SLC11A2_uc001rxd.3_Silent_p.T392T|SLC11A2_uc001rxc.3_Silent_p.T543T|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc001rxg.1_Silent_p.T156T|SLC11A2_uc010smx.1_Silent_p.T539T|SLC11A2_uc001rxh.1_Silent_p.T543T|SLC11A2_uc001rxj.1_Silent_p.T543T|SLC11A2_uc001rxi.2_Silent_p.T543T|SLC11A2_uc001rxk.1_Silent_p.T572T|SLC11A2_uc010smy.1_Silent_p.T506T	p.T543T	NM_000617	NP_000608	P49281	NRAM2_HUMAN			16	1726	-			543			Cytoplasmic (Potential).		B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Silent	SNP	ENST00000262051.7	37	c.1629G>A	CCDS53792.1																																																																																				0.493	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1		Silent	5	75	0	0	0	0	5	75				
DNAJC14	85406	broad.mit.edu	37	12	56221128	56221128	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:56221128C>T	ENST00000357606.3	-	3	1604	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	DNAJC14_ENST00000317269.3_Missense_Mutation_p.E439K|DNAJC14_ENST00000317287.5_Missense_Mutation_p.E439K|TMEM198B_ENST00000478241.1_RNA|RP11-762I7.5_ENST00000546837.1_Silent_p.*68*			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	439					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGCTCATCCTCAGGAACCCCA	0.527																																						uc001shx.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(1315-1317)GAG>AAG		dopamine receptor interacting protein							168.0	152.0	157.0					12																	56221128		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56221128C>T	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1315G>A	12.37:g.56221128C>T	ENSP00000350223:p.Glu439Lys					DNAJC14_uc001shu.1_Missense_Mutation_p.E439K|DNAJC14_uc009zob.1_Missense_Mutation_p.E439K|DNAJC14_uc001shy.1_Missense_Mutation_p.E439K	p.E439K	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN			2	1519	-			439					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.1315G>A	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385333	0.61956	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287	T;T;T	0.21191	2.02;2.02;2.02	4.95	4.06	0.47325	Heat shock protein DnaJ, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.25269	0.0614	L	0.32530	0.975	0.47584	D	0.999469	D;D	0.57257	0.979;0.979	P;P	0.53006	0.715;0.715	T	0.02144	-1.1206	10	0.72032	D	0.01	-15.9878	11.4323	0.50047	0.0:0.9124:0.0:0.0876	.	439;439	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	K	439;439;149;439	ENSP00000350223:E439K;ENSP00000316240:E439K;ENSP00000317500:E439K	ENSP00000316240:E439K	E	-	1	0	DNAJC14	54507395	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	6.864000	0.75494	1.456000	0.47831	-0.140000	0.14226	GAG		0.527	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		12	172	0	0	0	0	12	172				
CS	1431	broad.mit.edu	37	12	56677625	56677625	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:56677625C>G	ENST00000351328.3	-	4	408	c.218G>C	c.(217-219)aGa>aCa	p.R73T	CS_ENST00000548567.1_Missense_Mutation_p.R7T|CS_ENST00000542324.2_Missense_Mutation_p.R60T	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	73					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CTTCATGCCTCTCATGCCACC	0.373																																						uc001sks.1		NA																	0					0						c.(217-219)AGA>ACA		citrate synthase precursor							80.0	69.0	73.0					12																	56677625		2203	4300	6503	SO:0001583	missense	1431				cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity	g.chr12:56677625C>G		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.218G>C	12.37:g.56677625C>G	ENSP00000342056:p.Arg73Thr					CS_uc010sql.1_Missense_Mutation_p.R60T|CS_uc001skr.1_Missense_Mutation_p.R7T|CS_uc001skt.1_Missense_Mutation_p.R28T|CS_uc010sqm.1_Missense_Mutation_p.R7T	p.R73T	NM_004077	NP_004068	O75390	CISY_HUMAN		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)	4	408	-		Myeloproliferative disorder(1001;0.000374)	73					Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	37	c.218G>C	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736407	0.89482	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000542324;ENST00000548041;ENST00000551936;ENST00000550734;ENST00000551253;ENST00000552688;ENST00000551473;ENST00000547298;ENST00000551137;ENST00000550655;ENST00000551968;ENST00000550159;ENST00000551430	.	.	.	4.72	4.72	0.59763	Citrate synthase-like, large alpha subdomain (1);Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	D	0.86944	0.6055	H	0.97962	4.115	0.80722	D	1	D;D;D;D	0.60575	0.988;0.967;0.967;0.967	P;P;P;P	0.58620	0.842;0.837;0.837;0.837	D	0.92110	0.5695	9	0.87932	D	0	-10.6371	17.3571	0.87340	0.0:1.0:0.0:0.0	.	7;60;28;73	B7Z1E1;B4DJV2;B3KTN4;O75390	.;.;.;CISY_HUMAN	T	7;73;60;73;7;7;7;37;7;7;7;73;73;7;7	.	ENSP00000342056:R73T	R	-	2	0	CS	54963892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.315000	0.78998	2.550000	0.86006	0.655000	0.94253	AGA		0.373	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		5	25	0	0	0	0	5	25				
OS9	10956	broad.mit.edu	37	12	58113926	58113926	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:58113926C>T	ENST00000315970.7	+	13	1686	c.1645C>T	c.(1645-1647)Cgt>Tgt	p.R549C	OS9_ENST00000439210.2_Intron|OS9_ENST00000413095.2_Intron|OS9_ENST00000551035.1_Intron|OS9_ENST00000389142.5_Intron|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000552285.1_Intron|OS9_ENST00000389146.6_Missense_Mutation_p.R534C|OS9_ENST00000257966.8_Intron|OS9_ENST00000435406.2_Intron	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	549					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CACCAAGCTCCGTCTCGGAGG	0.572																																						uc001spj.2		NA																	0				ovary(1)	1						c.(1645-1647)CGT>TGT		osteosarcoma amplified 9, endoplasmic reticulum							86.0	87.0	86.0					12																	58113926		2203	4300	6503	SO:0001583	missense	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58113926C>T	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1645C>T	12.37:g.58113926C>T	ENSP00000318165:p.Arg549Cys					OS9_uc010srx.1_Intron|OS9_uc001spk.2_Missense_Mutation_p.R534C|OS9_uc001spl.2_Intron|OS9_uc001spm.2_Intron|OS9_uc001spn.2_Intron|OS9_uc010sry.1_Intron|OS9_uc010srz.1_Intron	p.R549C	NM_006812	NP_006803	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		13	1704	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		549					A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	c.1645C>T	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911476	0.72983	.	.	ENSG00000135506	ENST00000315970;ENST00000389146	T;T	0.25579	1.81;1.79	5.01	5.01	0.66863	.	0.188845	0.45361	D	0.000365	T	0.23727	0.0574	N	0.24115	0.695	0.80722	D	1	D;D	0.65815	0.995;0.99	P;P	0.49387	0.609;0.53	T	0.01245	-1.1407	10	0.87932	D	0	.	10.8326	0.46669	0.1882:0.8118:0.0:0.0	.	534;549	A6NLB2;Q13438	.;OS9_HUMAN	C	549;534	ENSP00000318165:R549C;ENSP00000373798:R534C	ENSP00000318165:R549C	R	+	1	0	OS9	56400193	0.734000	0.28142	1.000000	0.80357	0.999000	0.98932	1.194000	0.32174	2.599000	0.87857	0.655000	0.94253	CGT		0.572	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		29	103	0	0	0	0	29	103				
C12orf56	115749	broad.mit.edu	37	12	64746823	64746823	+	Missense_Mutation	SNP	G	G	A	rs201983310		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:64746823G>A	ENST00000543942.2	-	2	892	c.266C>T	c.(265-267)cCg>cTg	p.P89L	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.P89L|snoU13_ENST00000459220.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	89								p.P89Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CAAAAATTCCGGGTAATCATC	0.343													g|||	1	0.000199681	0.0008	0.0	5008	,	,		14226	0.0		0.0	False		,,,				2504	0.0					uc001ssa.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(265-267)CCG>CTG		hypothetical protein LOC115749							91.0	87.0	88.0					12																	64746823		1813	4079	5892	SO:0001583	missense	115749							g.chr12:64746823G>A		CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.266C>T	12.37:g.64746823G>A	ENSP00000446101:p.Pro89Leu					uc001srx.2_Intron	p.P89L	NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)	2	266	-			89						Missense_Mutation	SNP	ENST00000543942.2	37	c.266C>T		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	17.21	3.330383	0.60743	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716;ENST00000543259	.	.	.	3.83	3.83	0.44106	.	0.088941	0.43747	D	0.000536	T	0.75539	0.3863	M	0.76002	2.32	0.51012	D	0.999903	D	0.89917	1.0	D	0.72982	0.979	T	0.76377	-0.2981	8	.	.	.	-7.5572	11.5392	0.50657	0.0:0.0:1.0:0.0	.	89	Q8IXR9-2	.	L	89;89;89;76	.	.	P	-	2	0	C12orf56	63033090	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	3.627000	0.54252	2.439000	0.82584	0.651000	0.88453	CCG		0.343	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	NM_001099676		6	65	0	0	0	0	6	65				
CPSF6	11052	broad.mit.edu	37	12	69652600	69652600	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:69652600C>T	ENST00000435070.2	+	6	1035	c.925C>T	c.(925-927)Cca>Tca	p.P309S	CPSF6_ENST00000266679.8_Missense_Mutation_p.P346S|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Missense_Mutation_p.P236S	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	309	Pro-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CCCTCCTGGCCCACCACCTCC	0.632																																						uc001sut.3		NA																	0					0						c.(925-927)CCA>TCA		cleavage and polyadenylation specific factor 6,							96.0	79.0	85.0					12																	69652600		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69652600C>T	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.925C>T	12.37:g.69652600C>T	ENSP00000391774:p.Pro309Ser					CPSF6_uc001suu.3_Missense_Mutation_p.P346S|CPSF6_uc010stk.1_5'UTR	p.P309S	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		6	1035	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		309			Pro-rich.		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.925C>T	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543007	0.27563	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	.	.	.	5.34	5.34	0.76211	.	0.049424	0.85682	D	0.000000	T	0.53254	0.1785	L	0.47716	1.5	0.80722	D	1	P;P	0.40731	0.728;0.455	B;B	0.37888	0.26;0.094	T	0.52117	-0.8618	8	.	.	.	-5.936	19.4248	0.94737	0.0:1.0:0.0:0.0	.	346;309	Q16630-2;Q16630	.;CPSF6_HUMAN	S	309;236;346	.	.	P	+	1	0	CPSF6	67938867	1.000000	0.71417	0.979000	0.43373	0.995000	0.86356	7.358000	0.79466	2.668000	0.90789	0.563000	0.77884	CCA		0.632	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		20	90	0	0	0	0	20	90				
RILPL2	196383	broad.mit.edu	37	12	123915096	123915096	+	Silent	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:123915096C>T	ENST00000280571.8	-	2	746	c.450G>A	c.(448-450)tcG>tcA	p.S150S		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	150	RILP-like.				epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|primary cilium (GO:0072372)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		CCAGGAGCTGCGACTTGAGTT	0.582																																						uc001uey.1		NA																	0					0						c.(448-450)TCG>TCA		Rab interacting lysosomal protein-like 2							135.0	128.0	131.0					12																	123915096		2203	4300	6503	SO:0001819	synonymous_variant	196383					cytosol|plasma membrane	identical protein binding	g.chr12:123915096C>T	AB085763	CCDS9248.1	12q24.31	2007-11-27				ENSG00000150977			28787	protein-coding gene	gene with protein product		614093				14668488	Standard	NM_145058		Approved	MGC7036, FLJ30380, FLJ32372	uc001uey.1	Q969X0		ENST00000280571.8:c.450G>A	12.37:g.123915096C>T							p.S150S	NM_145058	NP_659495	Q969X0	RIPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)	2	747	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		150			Potential.|RILP-like.			Silent	SNP	ENST00000280571.8	37	c.450G>A	CCDS9248.1																																																																																				0.582	RILPL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145058		9	155	0	0	0	0	9	155				
EP400	57634	broad.mit.edu	37	12	132514446	132514446	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:132514446C>T	ENST00000333577.4	+	29	5799	c.5690C>T	c.(5689-5691)tCa>tTa	p.S1897L	SNORA49_ENST00000386157.1_RNA|EP400_ENST00000389561.2_Missense_Mutation_p.S1861L|EP400_ENST00000389562.2_Missense_Mutation_p.S1860L|EP400_ENST00000330386.6_Missense_Mutation_p.S1780L|EP400_ENST00000332482.4_Missense_Mutation_p.S1824L			Q96L91	EP400_HUMAN	E1A binding protein p400	1897					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGTTCGACTCAGGTATGCGG	0.647																																						uc001ujn.2		NA																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(5581-5583)TCA>TTA		E1A binding protein p400							41.0	39.0	39.0					12																	132514446		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132514446C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5690C>T	12.37:g.132514446C>T	ENSP00000333602:p.Ser1897Leu					EP400_uc001ujl.2_Missense_Mutation_p.S1860L|EP400_uc001ujm.2_Missense_Mutation_p.S1780L|SNORA49_uc001ujo.2_5'Flank	p.S1861L	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	27	5617	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1897					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.5582C>T		.	.	.	.	.	.	.	.	.	.	C	15.88	2.962785	0.53507	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.81278	0.4789	M	0.83384	2.64	0.38883	D	0.956941	P;P;P	0.52316	0.952;0.952;0.952	P;P;P	0.45753	0.492;0.492;0.492	D	0.85701	0.1313	10	0.72032	D	0.01	.	19.6869	0.95982	0.0:1.0:0.0:0.0	.	1861;1780;1860	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	L	1897;1861;1860;1824;1780;1861	ENSP00000333602:S1897L;ENSP00000374212:S1861L;ENSP00000374213:S1860L;ENSP00000331737:S1824L;ENSP00000330620:S1780L	ENSP00000330620:S1780L	S	+	2	0	EP400	131080399	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.265000	0.43311	2.638000	0.89438	0.557000	0.71058	TCA		0.647	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		9	36	0	0	0	0	9	36				
ANKLE2	23141	broad.mit.edu	37	12	133306539	133306539	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:133306539C>G	ENST00000357997.5	-	11	2298	c.2209G>C	c.(2209-2211)Gat>Cat	p.D737H	ANKLE2_ENST00000542657.1_Missense_Mutation_p.D92H|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000539605.1_Missense_Mutation_p.D675H|ANKLE2_ENST00000542282.1_Missense_Mutation_p.D92H	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	737					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.D737H(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TTCAGTTTATCAAACTCAACA	0.473																																						uc001ukx.2		NA																	1	Substitution - Missense(1)		breast(1)		0						c.(2209-2211)GAT>CAT		ankyrin repeat and LEM domain containing 2							119.0	119.0	119.0					12																	133306539		1938	4133	6071	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133306539C>G	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2209G>C	12.37:g.133306539C>G	ENSP00000350686:p.Asp737His					ANKLE2_uc009zyw.1_Missense_Mutation_p.D92H	p.D737H	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	11	2276	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	737					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.2209G>C	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457131	0.63401	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000542282;ENST00000542657;ENST00000538766	T;T;T;T;T	0.53640	1.7;1.68;0.61;0.61;0.62	5.74	2.72	0.32119	.	0.198943	0.56097	D	0.000040	T	0.58666	0.2138	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	P	0.62813	0.907	T	0.59059	-0.7525	10	0.56958	D	0.05	-16.5762	9.3322	0.38030	0.0:0.7508:0.1196:0.1296	.	737	Q86XL3	ANKL2_HUMAN	H	675;737;92;92;92	ENSP00000446268:D675H;ENSP00000350686:D737H;ENSP00000437807:D92H;ENSP00000438551:D92H;ENSP00000445760:D92H	ENSP00000350686:D737H	D	-	1	0	ANKLE2	131816612	1.000000	0.71417	0.058000	0.19502	0.515000	0.34225	1.235000	0.32671	0.873000	0.35799	0.645000	0.84053	GAT		0.473	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			9	124	0	0	0	0	9	124				
COL4A2	1284	broad.mit.edu	37	13	111111187	111111187	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr13:111111187C>A	ENST00000360467.5	+	22	1808	c.1502C>A	c.(1501-1503)cCc>cAc	p.P501H	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	501	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTGCCAGGACCCAAGGGCTTC	0.637																																						uc001vqx.2		NA																	0				skin(3)|central_nervous_system(2)|ovary(1)	6						c.(1501-1503)CCC>CAC		alpha 2 type IV collagen preproprotein							79.0	85.0	83.0					13																	111111187		2003	4172	6175	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111111187C>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1502C>A	13.37:g.111111187C>A	ENSP00000353654:p.Pro501His						p.P501H	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		22	1791	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	501			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.1502C>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583711	0.46006	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.87650	-2.28	5.37	3.63	0.41609	.	0.232819	0.30365	N	0.009781	D	0.89199	0.6647	L	0.57536	1.79	0.36377	D	0.861689	D	0.63046	0.992	P	0.59948	0.866	D	0.88966	0.3397	10	0.41790	T	0.15	.	9.2033	0.37272	0.1462:0.7769:0.0:0.0769	.	501	P08572	CO4A2_HUMAN	H	501	ENSP00000353654:P501H	ENSP00000257309:P501H	P	+	2	0	COL4A2	109909188	0.965000	0.33210	1.000000	0.80357	0.839000	0.47603	1.407000	0.34657	0.629000	0.30376	0.655000	0.94253	CCC		0.637	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		13	89	1	0	7.93e-07	9.65e-07	13	89				
MYH6	4624	broad.mit.edu	37	14	23858093	23858093	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr14:23858093G>A	ENST00000356287.3	-	28	4179	c.4150C>T	c.(4150-4152)Cgg>Tgg	p.R1384W	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.R1384W			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1384					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCTCAGTCCGCTGAATGGCG	0.622																																						uc001wjv.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(4150-4152)CGG>TGG		myosin heavy chain 6							85.0	78.0	81.0					14																	23858093		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23858093G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4150C>T	14.37:g.23858093G>A	ENSP00000348634:p.Arg1384Trp					uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank	p.R1384W	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	29	4217	-	all_cancers(95;2.54e-05)		1384			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4150C>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	17.58	3.425359	0.62733	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.81078	-1.45;-1.45	4.74	-9.49	0.00587	Myosin tail (1);	.	.	.	.	D	0.91486	0.7312	H	0.96239	3.79	0.49130	D	0.999752	D	0.89917	1.0	D	0.97110	1.0	D	0.93853	0.7147	9	0.87932	D	0	.	19.3128	0.94198	0.0:0.0:0.3574:0.6426	.	1384	P13533	MYH6_HUMAN	W	1384	ENSP00000386041:R1384W;ENSP00000348634:R1384W	ENSP00000348634:R1384W	R	-	1	2	MYH6	22927933	0.738000	0.28186	0.439000	0.26833	0.540000	0.34992	0.188000	0.17018	-1.821000	0.01213	-1.036000	0.02392	CGG		0.622	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			45	88	0	0	0	0	45	88				
NUMB	8650	broad.mit.edu	37	14	73743879	73743879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr14:73743879G>A	ENST00000355058.3	-	13	1641	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	NUMB_ENST00000556772.1_Nonsense_Mutation_p.Q311*|NUMB_ENST00000359560.3_Nonsense_Mutation_p.Q444*|NUMB_ENST00000555738.2_Nonsense_Mutation_p.Q298*|NUMB_ENST00000535282.1_Nonsense_Mutation_p.Q444*|NUMB_ENST00000555394.1_Nonsense_Mutation_p.Q407*|NUMB_ENST00000554546.1_Nonsense_Mutation_p.Q396*|NUMB_ENST00000560335.1_Nonsense_Mutation_p.Q309*|NUMB_ENST00000555238.1_Nonsense_Mutation_p.Q455*|NUMB_ENST00000356296.4_Nonsense_Mutation_p.Q407*|NUMB_ENST00000554521.2_Nonsense_Mutation_p.Q249*|NUMB_ENST00000544991.3_Nonsense_Mutation_p.Q260*|NUMB_ENST00000557597.1_Nonsense_Mutation_p.Q444*|NUMB_ENST00000454166.4_Nonsense_Mutation_p.Q309*|NUMB_ENST00000559312.1_Nonsense_Mutation_p.Q260*			P49757	NUMB_HUMAN	numb homolog (Drosophila)	455					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GCCTGGGGCTGCTGAGCCCGG	0.607																																						uc001xny.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1363-1365)CAG>TAG		numb homolog isoform 1							45.0	43.0	44.0					14																	73743879		2203	4300	6503	SO:0001587	stop_gained	8650				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		g.chr14:73743879G>A	L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1363C>T	14.37:g.73743879G>A	ENSP00000347169:p.Gln455*					NUMB_uc010aro.1_Nonsense_Mutation_p.Q260*|NUMB_uc010arp.1_Nonsense_Mutation_p.Q249*|NUMB_uc010arq.1_Nonsense_Mutation_p.Q309*|NUMB_uc010arr.1_Nonsense_Mutation_p.Q298*|NUMB_uc001xoa.1_Nonsense_Mutation_p.Q407*|NUMB_uc001xnz.1_Nonsense_Mutation_p.Q444*|NUMB_uc001xob.1_Nonsense_Mutation_p.Q396*|NUMB_uc001xod.1_Nonsense_Mutation_p.Q407*|NUMB_uc001xoc.1_Nonsense_Mutation_p.Q455*|NUMB_uc010ars.1_Nonsense_Mutation_p.Q444*|NUMB_uc010ttz.1_Nonsense_Mutation_p.Q153*|NUMB_uc001xoe.2_RNA	p.Q455*	NM_001005743	NP_001005743	P49757	NUMB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)	13	1683	-			455					B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Nonsense_Mutation	SNP	ENST00000355058.3	37	c.1363C>T	CCDS32116.1	.	.	.	.	.	.	.	.	.	.	G	36	5.902413	0.97087	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000544991;ENST00000454166;ENST00000555738;ENST00000554521;ENST00000535282	.	.	.	5.65	5.65	0.86999	.	0.054479	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-7.9871	19.9142	0.97043	0.0:0.0:1.0:0.0	.	.	.	.	X	396;407;444;455;311;455;444;407;260;309;298;249;444	.	ENSP00000347169:Q455X	Q	-	1	0	NUMB	72813632	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	8.924000	0.92827	2.941000	0.99782	0.655000	0.94253	CAG		0.607	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1			15	39	0	0	0	0	15	39				
DYNC1H1	1778	broad.mit.edu	37	14	102506067	102506067	+	Silent	SNP	G	G	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr14:102506067G>T	ENST00000360184.4	+	62	11852	c.11688G>T	c.(11686-11688)gtG>gtT	p.V3896V	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3896					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGGGCACCGTGGGGTAAGAGC	0.502																																						uc001yks.2		NA																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(11686-11688)GTG>GTT		cytoplasmic dynein 1 heavy chain 1							78.0	73.0	75.0					14																	102506067		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102506067G>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11688G>T	14.37:g.102506067G>T							p.V3896V	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			62	11852	+			3896					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.11688G>T	CCDS9966.1																																																																																				0.502	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		15	84	1	0	1.05e-09	1.31e-09	15	84				
ASPG	374569	broad.mit.edu	37	14	104571696	104571696	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr14:104571696C>T	ENST00000551177.1	+	10	1174	c.1082C>T	c.(1081-1083)aCg>aTg	p.T361M	ASPG_ENST00000549809.1_3'UTR|ASPG_ENST00000546892.2_Missense_Mutation_p.T361M|ASPG_ENST00000455920.2_Missense_Mutation_p.T361M	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	361					asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GGGGAGATGACGCCACCCTCG	0.672																																						uc001yoq.1		NA																	0					0						c.(1081-1083)ACG>ATG		60 kDa lysophospholipase							37.0	44.0	42.0					14																	104571696		2124	4244	6368	SO:0001583	missense	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104571696C>T		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.1082C>T	14.37:g.104571696C>T	ENSP00000450040:p.Thr361Met					ASPG_uc001yoo.1_Missense_Mutation_p.T389M|ASPG_uc001yop.1_Missense_Mutation_p.T361M|ASPG_uc001yor.1_Missense_Mutation_p.T361M	p.T361M	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN			10	1142	+			361					B9EGQ2|Q8IV80	Missense_Mutation	SNP	ENST00000551177.1	37	c.1082C>T	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920174	0.33908	.	.	ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920	T;T;T	0.25414	1.8;1.8;1.8	4.03	4.03	0.46877	.	0.279908	0.34411	N	0.003999	T	0.49338	0.1551	M	0.78456	2.415	0.39771	D	0.972169	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.72625	0.951;0.929;0.968;0.978	T	0.57283	-0.7838	10	0.87932	D	0	-17.2663	11.6637	0.51363	0.0:1.0:0.0:0.0	.	361;361;361;389	G3V1Y8;Q86U10;Q86U10-3;E5RFC2	.;LPP60_HUMAN;.;.	M	361;389;361;361	ENSP00000450040:T361M;ENSP00000448911:T361M;ENSP00000389003:T361M	ENSP00000299234:T389M	T	+	2	0	ASPG	103641449	0.141000	0.22595	0.868000	0.34077	0.039000	0.13416	1.068000	0.30629	1.788000	0.52465	0.407000	0.27541	ACG		0.672	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		5	43	0	0	0	0	5	43				
GABRB3	2562	broad.mit.edu	37	15	26825502	26825502	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr15:26825502G>A	ENST00000311550.5	-	6	757	c.646C>T	c.(646-648)Cac>Tac	p.H216Y	GABRB3_ENST00000541819.2_Missense_Mutation_p.H272Y|GABRB3_ENST00000299267.4_Missense_Mutation_p.H216Y|GABRB3_ENST00000400188.3_Missense_Mutation_p.H145Y|GABRB3_ENST00000545868.1_Missense_Mutation_p.H131Y	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	216					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)	ACCAGACGGTGCTCCACGATG	0.567																																						uc001zaz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(646-648)CAC>TAC		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						124.0	112.0	116.0					15																	26825502		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.chr15:26825502G>A		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.646C>T	15.37:g.26825502G>A	ENSP00000308725:p.His216Tyr					GABRB3_uc010uae.1_Missense_Mutation_p.H131Y|GABRB3_uc001zba.2_Missense_Mutation_p.H216Y|GABRB3_uc001zbb.2_Missense_Mutation_p.H272Y	p.H216Y	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)	6	788	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	216			Extracellular (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.646C>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	5.970	0.363015	0.11296	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.03	5.35	4.42	0.53409	Neurotransmitter-gated ion-channel ligand-binding (3);	0.104850	0.64402	D	0.000002	T	0.37732	0.1014	N	0.00335	-1.625	0.46631	D	0.999138	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.54456	-0.8291	10	0.02654	T	1	.	9.4116	0.38496	0.1491:0.0:0.8509:0.0	.	272;216;216	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	Y	216;272;216;145;131;131	ENSP00000308725:H216Y;ENSP00000442408:H272Y;ENSP00000299267:H216Y;ENSP00000383049:H145Y;ENSP00000439169:H131Y;ENSP00000452272:H131Y	ENSP00000299267:H216Y	H	-	1	0	GABRB3	24376595	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.993000	0.49425	2.667000	0.90743	0.655000	0.94253	CAC		0.567	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			15	81	0	0	0	0	15	81				
CTDSPL2	51496	broad.mit.edu	37	15	44816367	44816367	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr15:44816367G>C	ENST00000260327.4	+	13	1959	c.1396G>C	c.(1396-1398)Gat>Cat	p.D466H	CTDSPL2_ENST00000558966.1_Missense_Mutation_p.D466H|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.D394H|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.D394H	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	466							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		GCTGCCCCCAGATTAAGTACA	0.383																																						uc001ztr.2		NA																	0					0						c.(1396-1398)GAT>CAT		CTD (carboxy-terminal domain, RNA polymerase II,							86.0	83.0	84.0					15																	44816367		2198	4298	6496	SO:0001583	missense	51496						phosphoprotein phosphatase activity	g.chr15:44816367G>C	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.1396G>C	15.37:g.44816367G>C	ENSP00000260327:p.Asp466His					CTDSPL2_uc001zts.2_Missense_Mutation_p.D466H|CTDSPL2_uc001ztt.2_Missense_Mutation_p.D466H|CTDSPL2_uc010bdv.2_Missense_Mutation_p.D394H	p.D466H	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)	13	1812	+		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	466					Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	ENST00000260327.4	37	c.1396G>C	CCDS10110.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285152	0.95517	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	T;T	0.28454	1.61;2.25	5.7	5.7	0.88788	.	0.045363	0.85682	D	0.000000	T	0.58452	0.2123	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.59830	-0.7380	10	0.87932	D	0	.	19.8264	0.96619	0.0:0.0:1.0:0.0	.	394;466	Q05D32-2;Q05D32	.;CTSL2_HUMAN	H	466;394	ENSP00000260327:D466H;ENSP00000380000:D394H	ENSP00000260327:D466H	D	+	1	0	CTDSPL2	42603659	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.837000	0.99465	2.678000	0.91216	0.557000	0.71058	GAT		0.383	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396		3	37	0	0	0	0	3	37				
MYO9A	4649	broad.mit.edu	37	15	72190735	72190735	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr15:72190735C>T	ENST00000356056.5	-	25	4581	c.4109G>A	c.(4108-4110)cGg>cAg	p.R1370Q	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.R1370Q|MYO9A_ENST00000444904.1_Missense_Mutation_p.R1351Q|MYO9A_ENST00000424560.1_Missense_Mutation_p.R1370Q|MYO9A_ENST00000566885.1_Missense_Mutation_p.R990Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1370	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.R1370L(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGCATTGTCCCGTGAATCAAA	0.443																																						uc002atl.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(4108-4110)CGG>CAG		myosin IXA							113.0	113.0	113.0					15																	72190735		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72190735C>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4109G>A	15.37:g.72190735C>T	ENSP00000348349:p.Arg1370Gln					MYO9A_uc010biq.2_Missense_Mutation_p.R990Q|MYO9A_uc002atn.1_Missense_Mutation_p.R1351Q|MYO9A_uc002atk.2_Missense_Mutation_p.R94Q|MYO9A_uc002atm.1_Missense_Mutation_p.R94Q	p.R1370Q	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			25	4582	-			1370			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.4109G>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.662711	0.00772	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.83163	-1.69;-1.68;-1.69	5.51	1.74	0.24563	.	.	.	.	.	T	0.45074	0.1324	N	0.00162	-1.95	0.22827	N	0.998684	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46176	-0.9210	9	0.07644	T	0.81	.	8.2962	0.31986	0.0:0.2249:0.0:0.7751	.	1351;1370;1370	B2RTY4-2;B2RTY4-4;B2RTY4	.;.;MYO9A_HUMAN	Q	1370;1370;1351	ENSP00000348349:R1370Q;ENSP00000399162:R1370Q;ENSP00000398250:R1351Q	ENSP00000348349:R1370Q	R	-	2	0	MYO9A	69977789	0.884000	0.30299	0.623000	0.29173	0.079000	0.17450	0.714000	0.25808	0.070000	0.16634	-0.438000	0.05819	CGG		0.443	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		17	96	0	0	0	0	17	96				
TICRR	90381	broad.mit.edu	37	15	90168550	90168550	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr15:90168550C>T	ENST00000268138.7	+	20	5114	c.5009C>T	c.(5008-5010)tCc>tTc	p.S1670F	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.S1669F			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1670					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TGGACACCATCCCCCAAGCAC	0.607																																						uc002boe.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(5008-5010)TCC>TTC		leucine-rich repeat kinase 1							55.0	61.0	59.0					15																	90168550		2200	4299	6499	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90168550C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.5009C>T	15.37:g.90168550C>T	ENSP00000268138:p.Ser1670Phe					C15orf42_uc010upv.1_RNA	p.S1670F	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		20	5009	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1670					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.5009C>T	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839949	0.91117	.	.	ENSG00000140534	ENST00000268138	T	0.29655	1.56	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.58061	0.2096	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58393	-0.7644	10	0.62326	D	0.03	-21.0995	19.7681	0.96350	0.0:1.0:0.0:0.0	.	1670	Q7Z2Z1	TICRR_HUMAN	F	1670	ENSP00000268138:S1670F	ENSP00000268138:S1670F	S	+	2	0	C15orf42	87969554	1.000000	0.71417	0.820000	0.32676	0.998000	0.95712	6.732000	0.74790	2.732000	0.93576	0.655000	0.94253	TCC		0.607	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		12	57	0	0	0	0	12	57				
TICRR	90381	broad.mit.edu	37	15	90169002	90169002	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr15:90169002G>C	ENST00000268138.7	+	20	5566	c.5461G>C	c.(5461-5463)Gag>Cag	p.E1821Q	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.E1820Q			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1821					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GGGAGACGAAGAGGTGTTTGT	0.478																																						uc002boe.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(5461-5463)GAG>CAG		leucine-rich repeat kinase 1							78.0	88.0	85.0					15																	90169002		2198	4297	6495	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90169002G>C	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.5461G>C	15.37:g.90169002G>C	ENSP00000268138:p.Glu1821Gln					C15orf42_uc010upv.1_RNA	p.E1821Q	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		20	5461	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1821					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.5461G>C	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610977	0.46631	.	.	ENSG00000140534	ENST00000268138	T	0.09445	2.98	4.96	4.96	0.65561	.	0.622885	0.15320	N	0.268604	T	0.27933	0.0688	M	0.63843	1.955	0.80722	D	1	D	0.67145	0.996	P	0.61658	0.892	T	0.00374	-1.1780	10	0.42905	T	0.14	-16.468	15.466	0.75400	0.0:0.0:1.0:0.0	.	1821	Q7Z2Z1	TICRR_HUMAN	Q	1821	ENSP00000268138:E1821Q	ENSP00000268138:E1821Q	E	+	1	0	C15orf42	87970006	0.999000	0.42202	0.229000	0.23960	0.082000	0.17680	5.584000	0.67490	2.457000	0.83068	0.563000	0.77884	GAG		0.478	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		22	145	0	0	0	0	22	145				
CLCN7	1186	broad.mit.edu	37	16	1510884	1510884	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:1510884G>A	ENST00000382745.4	-	5	1022	c.417C>T	c.(415-417)ctC>ctT	p.L139L	CLCN7_ENST00000262318.8_Silent_p.L115L|CLCN7_ENST00000448525.1_Silent_p.L115L	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	139					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				AGCAGGCCACGAGGCCCGTGA	0.642																																						uc002clv.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(415-417)CTC>CTT		chloride channel 7 isoform a							82.0	72.0	75.0					16																	1510884		2199	4300	6499	SO:0001819	synonymous_variant	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1510884G>A	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.417C>T	16.37:g.1510884G>A						CLCN7_uc002clw.2_Silent_p.L115L	p.L139L	NM_001287	NP_001278	P51798	CLCN7_HUMAN			5	527	-		Hepatocellular(780;0.0893)	139			Helical; (By similarity).		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	c.417C>T	CCDS32361.1																																																																																				0.642	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		18	50	0	0	0	0	18	50				
CLDN9	9080	broad.mit.edu	37	16	3063471	3063471	+	Silent	SNP	C	C	T	rs200336281		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:3063471C>T	ENST00000445369.2	+	1	1015	c.108C>T	c.(106-108)atC>atT	p.I36I		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	36					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CCGCCTTCATCGGCAACAGCA	0.657																																						uc010uwo.1		NA																	0					0						c.(106-108)ATC>ATT		claudin 9							126.0	101.0	110.0					16																	3063471		2198	4300	6498	SO:0001819	synonymous_variant	9080				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3063471C>T	AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"""Claudins"""	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.108C>T	16.37:g.3063471C>T							p.I36I	NM_020982	NP_066192	O95484	CLD9_HUMAN			1	1015	+			36			Extracellular (Potential).			Silent	SNP	ENST00000445369.2	37	c.108C>T	CCDS10487.1																																																																																				0.657	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982		18	81	0	0	0	0	18	81				
RBFOX1	54715	broad.mit.edu	37	16	7568266	7568266	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:7568266G>A	ENST00000550418.1	+	5	1133	c.145G>A	c.(145-147)Gcg>Acg	p.A49T	RBFOX1_ENST00000422070.4_Missense_Mutation_p.A92T|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A85T|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A69T|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A49T|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A69T|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A69T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A49T|RBFOX1_ENST00000340209.4_Missense_Mutation_p.A54T|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A92T|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A85T	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	49					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TCCCCACCCCGCGCCAGAGTA	0.662																																					Ovarian(157;934 2567 15163 39509)	uc002cys.2		NA																	0					0						c.(145-147)GCG>ACG		ataxin 2-binding protein 1 isoform 4							116.0	113.0	114.0					16																	7568266		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568266G>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.145G>A	16.37:g.7568266G>A	ENSP00000450031:p.Ala49Thr					A2BP1_uc010buf.1_Missense_Mutation_p.A49T|A2BP1_uc002cyr.1_Missense_Mutation_p.A49T|A2BP1_uc002cyt.2_Missense_Mutation_p.A49T|A2BP1_uc010uxz.1_Missense_Mutation_p.A92T|A2BP1_uc010uya.1_Missense_Mutation_p.A85T|A2BP1_uc002cyv.1_Missense_Mutation_p.A49T|A2BP1_uc010uyb.1_Missense_Mutation_p.A49T|A2BP1_uc002cyw.2_Missense_Mutation_p.A69T|A2BP1_uc002cyy.2_Missense_Mutation_p.A69T|A2BP1_uc002cyx.2_Missense_Mutation_p.A69T|A2BP1_uc010uyc.1_Missense_Mutation_p.A69T	p.A49T	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	5	1133	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	49					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.145G>A	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	7.291	0.611157	0.14066	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.34275	1.85;1.42;1.73;1.69;1.7;1.81;1.42;1.46;1.65;1.61;1.37	4.85	3.88	0.44766	.	0.296529	0.32244	N	0.006367	T	0.05502	0.0145	N	0.00159	-1.955	0.37475	D	0.91578	B;P;B;B;B;P;B;B;B	0.43314	0.007;0.803;0.282;0.02;0.001;0.47;0.002;0.0;0.289	B;B;B;B;B;B;B;B;B	0.25884	0.002;0.064;0.016;0.011;0.004;0.041;0.001;0.002;0.055	T	0.30238	-0.9985	10	0.07990	T	0.79	-2.3794	10.6542	0.45665	0.1578:0.0:0.8422:0.0	.	69;85;92;69;69;69;49;49;92	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	T	49;49;49;92;92;85;85;49;49;69;69;69;69;54	ENSP00000450402:A49T;ENSP00000450031:A49T;ENSP00000447753:A49T;ENSP00000446842:A92T;ENSP00000391269:A92T;ENSP00000447281:A49T;ENSP00000447717:A49T;ENSP00000402745:A69T;ENSP00000309117:A69T;ENSP00000347855:A69T;ENSP00000344196:A54T	ENSP00000309117:A69T	A	+	1	0	RBFOX1	7508267	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.226000	0.51254	0.997000	0.38969	0.557000	0.71058	GCG		0.662	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		52	134	0	0	0	0	52	134				
ABCC1	4363	broad.mit.edu	37	16	16184309	16184309	+	Silent	SNP	C	C	T	rs374092475		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:16184309C>T	ENST00000399410.3	+	19	2683	c.2508C>T	c.(2506-2508)gaC>gaT	p.D836D	ABCC1_ENST00000399408.2_Silent_p.D836D|ABCC1_ENST00000349029.5_Silent_p.D721D|ABCC1_ENST00000345148.5_Silent_p.D836D|ABCC1_ENST00000351154.5_Silent_p.D777D|ABCC1_ENST00000346370.5_Silent_p.D780D	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	836	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CGCAGGTGGACGTCATCATCG	0.602																																						uc010bvi.2		NA																	0				ovary(4)	4						c.(2506-2508)GAC>GAT		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	C	,,,,	0,4220		0,0,2110	43.0	43.0	43.0		2508,2331,2340,2163,2508	-3.6	0.2	16		43	1,8497		0,1,4248	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ABCC1	NM_004996.3,NM_019862.2,NM_019898.2,NM_019899.2,NM_019900.2	,,,,	0,1,6358	TT,TC,CC		0.0118,0.0,0.0079	,,,,	836/1532,777/1473,780/1476,721/1417,836/1467	16184309	1,12717	2110	4249	6359	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16184309C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.2508C>T	16.37:g.16184309C>T						ABCC1_uc010bvj.2_Silent_p.D777D|ABCC1_uc010bvk.2_Silent_p.D780D|ABCC1_uc010bvl.2_Silent_p.D836D|ABCC1_uc010bvm.2_Silent_p.D721D|ABCC1_uc002del.3_Silent_p.D720D	p.D836D	NM_004996	NP_004987	P33527	MRP1_HUMAN			19	2683	+			836			ABC transporter 1.|Cytoplasmic.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.2508C>T	CCDS42122.1																																																																																				0.602	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		5	39	0	0	0	0	5	39				
DNAH3	55567	broad.mit.edu	37	16	20999081	20999081	+	Silent	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:20999081G>C	ENST00000261383.3	-	46	6815	c.6816C>G	c.(6814-6816)gtC>gtG	p.V2272V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2272	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCAGGTTAAAGACGTAATGTG	0.483																																						uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(6814-6816)GTC>GTG		dynein, axonemal, heavy chain 3							122.0	104.0	110.0					16																	20999081		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20999081G>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6816C>G	16.37:g.20999081G>C						DNAH3_uc010vbd.1_5'Flank	p.V2272V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	46	6816	-			2272			AAA 3 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.6816C>G	CCDS10594.1																																																																																				0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		8	60	0	0	0	0	8	60				
SPN	6693	broad.mit.edu	37	16	29675887	29675887	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:29675887C>T	ENST00000360121.3	+	2	930	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	SPN_ENST00000395389.2_Missense_Mutation_p.R280W	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						GTGGCGCCGGCGGCAGAAGCG	0.687																																						uc002dtm.2		NA																	0				central_nervous_system(2)	2						c.(838-840)CGG>TGG		sialophorin precursor							26.0	23.0	24.0					16																	29675887		2196	4299	6495	SO:0001583	missense	6693				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	g.chr16:29675887C>T	J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"""CD molecules"""	11249	protein-coding gene	gene with protein product	"""leukosialin"""	182160	"""sialophorin (gpL115, leukosialin, CD43)"""			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.838C>T	16.37:g.29675887C>T	ENSP00000353238:p.Arg280Trp					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Missense_Mutation_p.R280W|SPN_uc010bzd.2_RNA	p.R280W	NM_001030288	NP_001025459	P16150	LEUK_HUMAN			2	974	+			280			Cytoplasmic (Potential).		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000360121.3	37	c.838C>T	CCDS10650.1	.	.	.	.	.	.	.	.	.	.	.	28.5	4.922042	0.92319	.	.	ENSG00000197471	ENST00000395389;ENST00000436527;ENST00000360121	T;T;T	0.71341	-0.44;-0.56;-0.44	5.18	-2.92	0.05615	.	0.191459	0.25780	N	0.028353	T	0.67230	0.2871	M	0.65498	2.005	0.09310	N	1	D	0.60575	0.988	P	0.48400	0.576	T	0.65150	-0.6238	10	0.87932	D	0	-8.7778	8.5666	0.33543	0.6552:0.2635:0.0:0.0813	.	280	P16150	LEUK_HUMAN	W	280	ENSP00000378787:R280W;ENSP00000412907:R280W;ENSP00000353238:R280W	ENSP00000353238:R280W	R	+	1	2	SPN	29583388	0.013000	0.17824	0.015000	0.15790	0.664000	0.39144	-0.372000	0.07504	-0.266000	0.09339	0.467000	0.42956	CGG		0.687	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2			6	27	0	0	0	0	6	27				
TP53	7157	broad.mit.edu	37	17	7577100	7577100	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:7577100T>C	ENST00000269305.4	-	8	1027	c.838A>G	c.(838-840)Aga>Gga	p.R280G	TP53_ENST00000455263.2_Missense_Mutation_p.R280G|TP53_ENST00000420246.2_Missense_Mutation_p.R280G|TP53_ENST00000359597.4_Missense_Mutation_p.R280G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280G	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	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		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.R280G(20)|p.0?(8)|p.R280*(8)|p.?(2)|p.G279fs*65(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*65(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	CGCCGGTCTCTCCCAGGACAG	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		54	Substitution - Missense(20)|Deletion - In frame(8)|Substitution - Nonsense(8)|Whole gene deletion(8)|Deletion - Frameshift(8)|Unknown(2)	p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)	upper_aerodigestive_tract(11)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(5)|lung(5)|urinary_tract(4)|breast(4)|bone(4)|stomach(3)|ovary(3)|liver(3)|large_intestine(2)|oesophagus(2)|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						c.(838-840)AGA>GGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							76.0	66.0	69.0					17																	7577100		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.chr17:7577100T>C	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.838A>G	17.37:g.7577100T>C	ENSP00000269305:p.Arg280Gly	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.R280G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148G|TP53_uc010cng.1_Missense_Mutation_p.R148G|TP53_uc002gii.1_Missense_Mutation_p.R148G|TP53_uc010cnh.1_Missense_Mutation_p.R280G|TP53_uc010cni.1_Missense_Mutation_p.R280G|TP53_uc002gij.2_Missense_Mutation_p.R280G	p.R280G	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1032	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	280		R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (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.838A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.099805	0.76983	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	5.13	5.13	0.70059	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	0.99876	0.9941	M	0.92649	3.33	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.999;0.996	D;D;D;D	0.97110	0.984;1.0;0.984;0.977	D	0.96385	0.9284	10	0.87932	D	0	-21.0303	12.9367	0.58319	0.0:0.0:0.0:1.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	280;280;280;280;280;269;148	ENSP00000352610:R280G;ENSP00000269305:R280G;ENSP00000398846:R280G;ENSP00000391127:R280G;ENSP00000391478:R280G;ENSP00000425104:R148G	ENSP00000269305:R280G	R	-	1	2	TP53	7517825	0.650000	0.27331	1.000000	0.80357	0.981000	0.71138	0.781000	0.26774	2.154000	0.67381	0.379000	0.24179	AGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	13	0	0	0	0	18	13				
GUCY2D	3000	broad.mit.edu	37	17	7916484	7916484	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:7916484C>T	ENST00000254854.4	+	11	2327	c.2177C>T	c.(2176-2178)gCc>gTc	p.A726V		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	726	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				GGAACGCTGGCCGGCGACGTC	0.657																																						uc002gjt.2		NA																	0				skin(1)	1						c.(2176-2178)GCC>GTC		guanylate cyclase 2D, membrane (retina-specific)							45.0	40.0	41.0					17																	7916484		2203	4300	6503	SO:0001583	missense	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7916484C>T	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2177C>T	17.37:g.7916484C>T	ENSP00000254854:p.Ala726Val						p.A726V	NM_000180	NP_000171	Q02846	GUC2D_HUMAN			11	2251	+		Prostate(122;0.157)	726			Protein kinase.|Cytoplasmic (Potential).		Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	c.2177C>T	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.549114	0.27652	.	.	ENSG00000132518	ENST00000254854	T	0.64260	-0.09	5.11	4.08	0.47627	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.645612	0.13924	N	0.353379	T	0.64638	0.2616	M	0.82132	2.575	0.09310	N	1	P	0.34699	0.464	B	0.38880	0.284	T	0.62364	-0.6870	10	0.66056	D	0.02	.	7.5879	0.28004	0.2437:0.6125:0.1438:0.0	.	726	Q02846	GUC2D_HUMAN	V	726	ENSP00000254854:A726V	ENSP00000254854:A726V	A	+	2	0	GUCY2D	7857209	0.000000	0.05858	0.293000	0.24932	0.409000	0.31022	-0.144000	0.10280	2.663000	0.90544	0.561000	0.74099	GCC		0.657	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			4	20	0	0	0	0	4	20				
HAP1	9001	broad.mit.edu	37	17	39881315	39881315	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:39881315C>A	ENST00000310778.5	-	12	1663	c.1654G>T	c.(1654-1656)Gaa>Taa	p.E552*	HAP1_ENST00000393939.2_Nonsense_Mutation_p.E475*|HAP1_ENST00000347901.4_Nonsense_Mutation_p.E500*|HAP1_ENST00000341193.5_Nonsense_Mutation_p.E483*|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	552	Glu-rich.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GTGAAATCTTCCCCCCGCATG	0.617																																						uc002hxm.1		NA																	0				ovary(2)	2						c.(1654-1656)GAA>TAA		huntingtin-associated protein 1 isoform 2							169.0	181.0	177.0					17																	39881315		2203	4300	6503	SO:0001587	stop_gained	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39881315C>A	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1654G>T	17.37:g.39881315C>A	ENSP00000309392:p.Glu552*					JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Nonsense_Mutation_p.E500*|HAP1_uc002hxo.1_Nonsense_Mutation_p.E483*|HAP1_uc002hxp.1_Nonsense_Mutation_p.E475*	p.E552*	NM_177977	NP_817084	P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		12	1666	-		Breast(137;0.000162)	552			Glu-rich.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Nonsense_Mutation	SNP	ENST00000310778.5	37	c.1654G>T		.	.	.	.	.	.	.	.	.	.	C	24.1	4.492470	0.84962	.	.	ENSG00000173805	ENST00000458656;ENST00000442364;ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	.	.	.	3.22	1.13	0.20643	.	0.370084	0.19665	N	0.108895	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-0.0438	6.305	0.21133	0.0:0.6975:0.1893:0.1133	.	.	.	.	X	7;27;475;552;500;483	.	ENSP00000309392:E552X	E	-	1	0	HAP1	37134841	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.553000	0.23391	0.344000	0.23847	-0.192000	0.12808	GAA		0.617	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		43	297	1	0	2.62e-09	3.24e-09	43	297				
GDPD1	284161	broad.mit.edu	37	17	57350187	57350187	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:57350187G>A	ENST00000284116.4	+	9	949	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	GDPD1_ENST00000581140.1_Intron|GDPD1_ENST00000581276.1_Missense_Mutation_p.R271Q	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	271	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CTAACTGCTCGAGGCATTCAA	0.353																																						uc002ixk.1		NA																	0					0						c.(811-813)CGA>CAA		glycerophosphodiester phosphodiesterase domain							184.0	169.0	174.0					17																	57350187		2203	4300	6503	SO:0001583	missense	284161				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr17:57350187G>A	AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.812G>A	17.37:g.57350187G>A	ENSP00000284116:p.Arg271Gln					GDPD1_uc002ixj.2_Missense_Mutation_p.R271Q	p.R271Q	NM_182569	NP_872375	Q8N9F7	GDPD1_HUMAN			9	949	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		271			GDPD.|Extracellular (Potential).		A8W735|Q56VR1|Q8N4E3	Missense_Mutation	SNP	ENST00000284116.4	37	c.812G>A	CCDS11616.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497610	0.64186	.	.	ENSG00000153982	ENST00000284116	T	0.11930	2.73	5.5	5.5	0.81552	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.41627	0.1167	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.15925	-1.0420	10	0.39692	T	0.17	.	18.3693	0.90401	0.0:0.0:1.0:0.0	.	271;271	Q8N9F7;Q8N9F7-2	GDPD1_HUMAN;.	Q	271	ENSP00000284116:R271Q	ENSP00000284116:R271Q	R	+	2	0	GDPD1	54704969	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	9.110000	0.94302	2.568000	0.86640	0.557000	0.71058	CGA		0.353	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446024.1	NM_182569		46	61	0	0	0	0	46	61				
BCAS3	54828	broad.mit.edu	37	17	59112065	59112065	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:59112065C>T	ENST00000390652.5	+	18	1752	c.1721C>T	c.(1720-1722)tCg>tTg	p.S574L	BCAS3_ENST00000585744.1_Missense_Mutation_p.S345L|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000589222.1_Missense_Mutation_p.S559L|BCAS3_ENST00000407086.3_Missense_Mutation_p.S559L|BCAS3_ENST00000408905.3_Missense_Mutation_p.S559L|BCAS3_ENST00000588874.1_Missense_Mutation_p.S330L|BCAS3_ENST00000588462.1_Missense_Mutation_p.S574L	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCCAGCAAATCGATGGGCGGA	0.348																																						uc002iyv.3		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1720-1722)TCG>TTG		breast carcinoma amplified sequence 3 isoform 1							87.0	81.0	83.0					17																	59112065		1805	4080	5885	SO:0001583	missense	54828					nucleus		g.chr17:59112065C>T	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1721C>T	17.37:g.59112065C>T	ENSP00000375067:p.Ser574Leu					BCAS3_uc010wow.1_Missense_Mutation_p.S346L|BCAS3_uc002iyu.3_Missense_Mutation_p.S559L|BCAS3_uc002iyw.3_Missense_Mutation_p.S555L|BCAS3_uc002iyy.3_Missense_Mutation_p.S330L|BCAS3_uc002iyz.3_Missense_Mutation_p.S128L|BCAS3_uc002iza.3_Missense_Mutation_p.S113L	p.S574L	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		18	1830	+			574						Missense_Mutation	SNP	ENST00000390652.5	37	c.1721C>T	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	C	35	5.457450	0.96240	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207	T;T;T	0.34275	1.43;1.39;1.37	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	L	0.48642	1.525	0.58432	D	0.999998	D;D;D;D;D;D	0.69078	0.997;0.988;0.995;0.997;0.997;0.997	D;P;P;D;D;D	0.72982	0.979;0.569;0.731;0.964;0.979;0.964	T	0.49661	-0.8916	10	0.51188	T	0.08	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	350;559;574;559;574;559	B4E3M9;Q9H6U6-3;Q9H6U6-8;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;.;BCAS3_HUMAN;.	L	574;559;589;559;351	ENSP00000375067:S574L;ENSP00000385323:S559L;ENSP00000386173:S559L	ENSP00000353336:S351L	S	+	2	0	BCAS3	56466847	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	7.487000	0.81328	2.880000	0.98712	0.650000	0.86243	TCG		0.348	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		16	55	0	0	0	0	16	55				
SRP68	6730	broad.mit.edu	37	17	74060213	74060213	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:74060213C>G	ENST00000307877.2	-	4	566	c.405G>C	c.(403-405)tgG>tgC	p.W135C	SRP68_ENST00000355113.5_Missense_Mutation_p.W34C|SRP68_ENST00000539137.1_Missense_Mutation_p.W97C	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	135					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TGGCGTAGCTCCAGGCTCTTT	0.493																																						uc002jqk.1		NA																	0				ovary(1)	1						c.(403-405)TGG>TGC		signal recognition particle 68kDa							165.0	138.0	147.0					17																	74060213		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74060213C>G	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.405G>C	17.37:g.74060213C>G	ENSP00000312066:p.Trp135Cys					SRP68_uc010wsu.1_Missense_Mutation_p.W34C|SRP68_uc002jql.1_Missense_Mutation_p.W97C	p.W135C	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN			4	440	-			135					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.405G>C	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425085	0.83667	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.24	5.24	0.73138	.	0.050431	0.85682	D	0.000000	D	0.82967	0.5152	M	0.84219	2.685	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.66351	0.912;0.943	D	0.85310	0.1078	9	0.87932	D	0	-17.293	18.9995	0.92828	0.0:1.0:0.0:0.0	.	97;135	G3V1U4;Q9UHB9	.;SRP68_HUMAN	C	97;135;135;135;34	.	ENSP00000307756:W135C	W	-	3	0	SRP68	71571808	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.564000	0.82326	2.719000	0.93026	0.585000	0.79938	TGG		0.493	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		16	130	0	0	0	0	16	130				
CBX4	8535	broad.mit.edu	37	17	77808429	77808429	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:77808429G>A	ENST00000269397.4	-	5	1189	c.1012C>T	c.(1012-1014)Ccg>Tcg	p.P338S		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	338	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGGGGCTGCGGATCGCTAACC	0.662											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jxe.2		NA																	0				skin(2)	2						c.(1012-1014)CCG>TCG		chromobox homolog 4							23.0	23.0	23.0					17																	77808429		2203	4300	6503	SO:0001583	missense	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808429G>A	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1012C>T	17.37:g.77808429G>A	ENSP00000269397:p.Pro338Ser		OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178		p.P338S	NM_003655	NP_003646	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1175	-			338			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	ENST00000269397.4	37	c.1012C>T	CCDS32758.1	.	.	.	.	.	.	.	.	.	.	g	5.713	0.316126	0.10789	.	.	ENSG00000141582	ENST00000269397	.	.	.	3.15	-0.443	0.12249	.	2.211830	0.01886	N	0.038225	T	0.17023	0.0409	N	0.02539	-0.55	0.20307	N	0.999916	B	0.06786	0.001	B	0.08055	0.003	T	0.18493	-1.0335	9	0.23891	T	0.37	-8.361	9.0016	0.36085	0.091:0.4022:0.5068:0.0	.	338	O00257	CBX4_HUMAN	S	338	.	ENSP00000269397:P338S	P	-	1	0	CBX4	75423024	0.000000	0.05858	0.404000	0.26397	0.662000	0.39071	0.081000	0.14823	0.493000	0.27837	0.306000	0.20318	CCG		0.662	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		4	39	0	0	0	0	4	39				
CBX4	8535	broad.mit.edu	37	17	77808470	77808470	+	Missense_Mutation	SNP	G	G	A	rs150413647		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:77808470G>A	ENST00000269397.4	-	5	1148	c.971C>T	c.(970-972)cCg>cTg	p.P324L		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	324	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.P324L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCTCTTGGGCGGCGCCTCCAC	0.672											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jxe.2		NA																	1	Substitution - Missense(1)	p.P324L(1)|p.P324S(1)	skin(1)	skin(2)	2						c.(970-972)CCG>CTG		chromobox homolog 4							26.0	26.0	26.0					17																	77808470		2202	4300	6502	SO:0001583	missense	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808470G>A	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.971C>T	17.37:g.77808470G>A	ENSP00000269397:p.Pro324Leu		OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178		p.P324L	NM_003655	NP_003646	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1134	-			324			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	ENST00000269397.4	37	c.971C>T	CCDS32758.1	.	.	.	.	.	.	.	.	.	.	g	13.38	2.218689	0.39201	.	.	ENSG00000141582	ENST00000269397	.	.	.	3.67	3.67	0.42095	.	0.686289	0.10318	U	0.689154	T	0.41190	0.1148	L	0.44542	1.39	0.20638	N	0.999877	B	0.10296	0.003	B	0.06405	0.002	T	0.27502	-1.0072	9	0.42905	T	0.14	-24.3783	11.0217	0.47722	0.0:0.3856:0.6144:0.0	.	324	O00257	CBX4_HUMAN	L	324	.	ENSP00000269397:P324L	P	-	2	0	CBX4	75423065	0.911000	0.30947	0.007000	0.13788	0.875000	0.50365	3.751000	0.55165	1.593000	0.50029	0.306000	0.20318	CCG		0.672	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		6	54	0	0	0	0	6	54				
CABYR	26256	broad.mit.edu	37	18	21723218	21723218	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr18:21723218A>G	ENST00000399496.3	+	2	305	c.140A>G	c.(139-141)tAt>tGt	p.Y47C	CABYR_ENST00000581397.1_Missense_Mutation_p.Y47C|CABYR_ENST00000415309.2_Missense_Mutation_p.Y47C|CABYR_ENST00000399481.2_Intron|CABYR_ENST00000399499.1_Missense_Mutation_p.Y47C|CABYR_ENST00000327201.6_Intron	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	47	RIIa.				epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CTTACTATGTATAGAGGTTTG	0.343																																						uc002kux.2		NA																	0					0						c.(139-141)TAT>TGT		calcium-binding tyrosine							79.0	76.0	77.0					18																	21723218		2203	4300	6503	SO:0001583	missense	26256				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	g.chr18:21723218A>G	AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"""fibrousheathin 2"", ""cancer/testis antigen 88"""	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399496.3:c.140A>G	18.37:g.21723218A>G	ENSP00000382419:p.Tyr47Cys					CABYR_uc010xbb.1_Intron|CABYR_uc002kuy.2_Missense_Mutation_p.Y47C|CABYR_uc002kuz.2_Missense_Mutation_p.Y47C|CABYR_uc002kva.2_Missense_Mutation_p.Y47C|CABYR_uc002kvb.2_Intron|CABYR_uc002kvc.2_Missense_Mutation_p.Y47C	p.Y47C	NM_012189	NP_036321	O75952	CABYR_HUMAN			2	292	+	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)		47			RIIa.		B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Missense_Mutation	SNP	ENST00000399496.3	37	c.140A>G	CCDS42420.1	.	.	.	.	.	.	.	.	.	.	A	1.059	-0.673331	0.03403	.	.	ENSG00000154040	ENST00000399496;ENST00000415309;ENST00000399499	T;T;T	0.77229	-1.08;-1.08;-1.08	5.33	2.83	0.33086	cAMP-dependent protein kinase, regulatory subunit, type I/II alpha/beta (3);	0.203527	0.34725	N	0.003737	T	0.74442	0.3717	N	0.22421	0.69	0.80722	D	1	D;D;D;D	0.67145	0.979;0.996;0.969;0.975	P;P;P;P	0.59288	0.723;0.855;0.719;0.732	T	0.72250	-0.4348	10	0.52906	T	0.07	-10.0198	9.0185	0.36184	0.3086:0.0:0.0:0.6914	.	47;47;47;47	O75952-2;O75952-4;O75952-3;O75952	.;.;.;CABYR_HUMAN	C	47	ENSP00000382419:Y47C;ENSP00000399973:Y47C;ENSP00000382421:Y47C	ENSP00000382419:Y47C	Y	+	2	0	CABYR	19977216	1.000000	0.71417	0.669000	0.29828	0.030000	0.12068	2.150000	0.42254	0.287000	0.22375	-0.339000	0.08088	TAT		0.343	CABYR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090926.2	NM_153770		7	28	0	0	0	0	7	28				
TCF4	6925	broad.mit.edu	37	18	52896157	52896157	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr18:52896157C>G	ENST00000356073.4	-	18	2399	c.1788G>C	c.(1786-1788)aaG>aaC	p.K596N	TCF4_ENST00000537578.1_Missense_Mutation_p.K576N|TCF4_ENST00000564228.1_Missense_Mutation_p.K525N|TCF4_ENST00000568673.1_Missense_Mutation_p.K576N|TCF4_ENST00000566279.1_Missense_Mutation_p.K540N|TCF4_ENST00000561992.1_Missense_Mutation_p.K466N|TCF4_ENST00000566286.1_Missense_Mutation_p.K593N|TCF4_ENST00000561831.3_Missense_Mutation_p.K436N|TCF4_ENST00000567880.1_Missense_Mutation_p.K536N|TCF4_ENST00000537856.3_Missense_Mutation_p.K466N|TCF4_ENST00000568740.1_Missense_Mutation_p.K571N|TCF4_ENST00000564999.1_Missense_Mutation_p.K596N|TCF4_ENST00000570177.2_Missense_Mutation_p.K466N|TCF4_ENST00000570287.2_Missense_Mutation_p.K436N|TCF4_ENST00000540999.1_Missense_Mutation_p.K572N|TCF4_ENST00000544241.2_Missense_Mutation_p.K529N|TCF4_ENST00000565018.2_Missense_Mutation_p.K600N|TCF4_ENST00000398339.1_Missense_Mutation_p.K702N|TCF4_ENST00000564403.2_Missense_Mutation_p.K606N|TCF4_ENST00000543082.1_Missense_Mutation_p.K554N|TCF4_ENST00000457482.3_Missense_Mutation_p.K440N|TCF4_ENST00000354452.3_Missense_Mutation_p.K600N	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	596	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GCTTGTCACTCTTGAGGTGGA	0.622																																						uc002lfz.2		NA																	0				ovary(1)|lung(1)	2						c.(1786-1788)AAG>AAC		transcription factor 4 isoform b							109.0	94.0	99.0					18																	52896157		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52896157C>G	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1788G>C	18.37:g.52896157C>G	ENSP00000348374:p.Lys596Asn					TCF4_uc002lfw.3_Missense_Mutation_p.K440N|TCF4_uc010xdu.1_Missense_Mutation_p.K466N|TCF4_uc010xdv.1_Missense_Mutation_p.K466N|TCF4_uc002lfx.2_Missense_Mutation_p.K529N|TCF4_uc010xdw.1_Missense_Mutation_p.K466N|TCF4_uc002lfy.2_Missense_Mutation_p.K554N|TCF4_uc010xdx.1_Missense_Mutation_p.K572N|TCF4_uc010dph.1_Missense_Mutation_p.K600N|TCF4_uc010xdy.1_Missense_Mutation_p.K576N|TCF4_uc002lga.2_Missense_Mutation_p.K702N|TCF4_uc002lgb.1_Missense_Mutation_p.K436N|TCF4_uc010dpi.2_Missense_Mutation_p.K606N|TCF4_uc002lfv.2_Missense_Mutation_p.K379N	p.K596N	NM_003199	NP_003190	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	18	2400	-			596			Helix-loop-helix motif.		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1788G>C	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914087	0.72983	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	D;D;D;D;D;D;D;D;D	0.98012	-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66	5.79	5.79	0.91817	Helix-loop-helix DNA-binding (5);	0.101492	0.64402	D	0.000002	D	0.96577	0.8883	N	0.12422	0.21	0.80722	D	1	B;P;B;P;D;B;B;D;P	0.62365	0.338;0.703;0.289;0.549;0.991;0.338;0.338;0.989;0.699	B;P;B;P;D;B;B;D;P	0.76071	0.267;0.733;0.174;0.754;0.987;0.267;0.267;0.978;0.665	D	0.95871	0.8891	10	0.41790	T	0.15	-16.5945	12.844	0.57819	0.0:0.9217:0.0:0.0783	.	576;600;436;702;596;554;529;440;593	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	N	600;440;596;554;572;576;529;466;702	ENSP00000346440:K600N;ENSP00000409447:K440N;ENSP00000348374:K596N;ENSP00000439656:K554N;ENSP00000445202:K572N;ENSP00000440731:K576N;ENSP00000441562:K529N;ENSP00000439827:K466N;ENSP00000381382:K702N	ENSP00000346440:K600N	K	-	3	2	TCF4	51047155	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.096000	0.57734	2.739000	0.93911	0.563000	0.77884	AAG		0.622	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		21	83	0	0	0	0	21	83				
ILVBL	10994	broad.mit.edu	37	19	15226688	15226688	+	Silent	SNP	G	G	A	rs537834156		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:15226688G>A	ENST00000263383.3	-	14	1726	c.1587C>T	c.(1585-1587)atC>atT	p.I529I	ILVBL_ENST00000534378.1_Silent_p.I422I	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	529	Thiamine pyrophosphate binding. {ECO:0000250}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TATCAAATTCGATGAGGCTGT	0.582																																						uc002nam.2		NA																	0				ovary(2)	2						c.(1585-1587)ATC>ATT		ilvB (bacterial acetolactate synthase)-like							78.0	74.0	75.0					19																	15226688		2203	4300	6503	SO:0001819	synonymous_variant	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15226688G>A	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1587C>T	19.37:g.15226688G>A						ILVBL_uc010xof.1_Silent_p.I170I|ILVBL_uc010dzw.2_Silent_p.I422I	p.I529I	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN			14	1708	-			529			Thiamine pyrophosphate binding (By similarity).		O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Silent	SNP	ENST00000263383.3	37	c.1587C>T	CCDS12325.1																																																																																				0.582	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		17	29	0	0	0	0	17	29				
CPAMD8	27151	broad.mit.edu	37	19	17010309	17010309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:17010309G>A	ENST00000443236.1	-	37	4997	c.4966C>T	c.(4966-4968)Cga>Tga	p.R1656*	CPAMD8_ENST00000597335.1_5'Flank	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1609						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGAGCACTCGGCGTCCAGCC	0.577																																						uc002nfb.2		NA																	0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(4966-4968)CGA>TGA		C3 and PZP-like, alpha-2-macroglobulin domain							60.0	68.0	66.0					19																	17010309		2096	4217	6313	SO:0001587	stop_gained	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17010309G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4966C>T	19.37:g.17010309G>A	ENSP00000402505:p.Arg1656*					CPAMD8_uc010xpj.1_5'Flank|CPAMD8_uc002nfd.1_Nonsense_Mutation_p.R121*	p.R1656*	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			37	4998	-			1609					Q8NC09|Q9ULD7	Nonsense_Mutation	SNP	ENST00000443236.1	37	c.4966C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	44	10.643634	0.99443	.	.	ENSG00000160111	ENST00000291440	.	.	.	2.88	1.8	0.24995	.	0.078144	0.49916	U	0.000138	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	9.1026	0.36678	0.0:0.0:0.189:0.811	.	.	.	.	X	1656	.	ENSP00000291440:R1656X	R	-	1	2	CPAMD8	16871309	1.000000	0.71417	0.967000	0.41034	0.970000	0.65996	4.111000	0.57838	0.186000	0.20125	-0.461000	0.05368	CGA		0.577	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		7	48	0	0	0	0	7	48				
MAST3	23031	broad.mit.edu	37	19	18232697	18232697	+	Silent	SNP	G	G	A	rs370509186		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:18232697G>A	ENST00000262811.6	+	4	198	c.198G>A	c.(196-198)tcG>tcA	p.S66S	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	66							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGAATTTCTCGGCTGCCTCTG	0.642																																						uc002nhz.3		NA																	0				large_intestine(2)|ovary(2)|stomach(1)	5						c.(196-198)TCG>TCA		microtubule associated serine/threonine kinase		G		0,4160		0,0,2080	55.0	60.0	58.0		198	-9.6	0.0	19		58	2,8472		0,2,4235	no	coding-synonymous	MAST3	NM_015016.1		0,2,6315	AA,AG,GG		0.0236,0.0,0.0158		66/1310	18232697	2,12632	2080	4237	6317	SO:0001819	synonymous_variant	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18232697G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.198G>A	19.37:g.18232697G>A							p.S66S	NM_015016	NP_055831	O60307	MAST3_HUMAN			4	198	+			66					Q7LDZ8|Q9UPI0	Silent	SNP	ENST00000262811.6	37	c.198G>A	CCDS46014.1																																																																																				0.642	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		12	40	0	0	0	0	12	40				
ZNF285	26974	broad.mit.edu	37	19	44901376	44901376	+	Start_Codon_SNP	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:44901376C>T	ENST00000330997.4	-	2	67	c.3G>A	c.(1-3)atG>atA	p.M1I	CTC-512J12.6_ENST00000588212.1_Start_Codon_SNP_p.M1I|CTC-512J12.4_ENST00000588655.1_RNA|ZNF285_ENST00000591679.1_Start_Codon_SNP_p.M1I|ZNF285_ENST00000544719.2_Start_Codon_SNP_p.M1I	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	1					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GGAACTTAATCATACCGTCTT	0.383																																						uc010xwz.1		NA																	0				ovary(3)|skin(2)	5						c.(1-3)ATG>ATA		zinc finger protein 228 isoform 2							83.0	88.0	87.0					19																	44901376		2203	4298	6501	SO:0001582	initiator_codon_variant	7771				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44901376C>T	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.3G>A	19.37:g.44901376C>T	ENSP00000333595:p.Met1Ile					ZNF285_uc010xxa.1_Missense_Mutation_p.M1I|ZNF285_uc002ozd.3_Missense_Mutation_p.M1I	p.M1I	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN			2	90	-			1					Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.3G>A	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	C	6.062	0.379733	0.11466	.	.	ENSG00000062370	ENST00000253426;ENST00000544719;ENST00000330997	T	0.08193	3.12	1.65	1.65	0.23941	Krueppel-associated box (1);	.	.	.	.	T	0.04452	0.0122	.	.	.	0.80722	D	1	B;B;B	0.28850	0.225;0.0;0.092	B;B;B	0.12156	0.007;0.0;0.007	T	0.44375	-0.9332	8	0.21014	T	0.42	.	6.8517	0.24018	0.0:1.0:0.0:0.0	.	18;1;1	B7ZLR9;B4DYT4;Q96NJ3	.;.;ZN285_HUMAN	I	1;17;1	ENSP00000333595:M1I	ENSP00000253426:M1I	M	-	3	0	ZNF285	49593216	0.057000	0.20700	0.009000	0.14445	0.016000	0.09150	1.067000	0.30616	1.263000	0.44181	0.479000	0.44913	ATG		0.383	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354	Missense_Mutation	8	161	0	0	0	0	8	161				
SHANK1	50944	broad.mit.edu	37	19	51218989	51218989	+	Splice_Site	SNP	T	T	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:51218989T>A	ENST00000293441.1	-	3	478		c.e3-2		SHANK1_ENST00000391814.1_Splice_Site|SHANK1_ENST00000359082.3_Splice_Site	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1						adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTATCGGAACTGAGGTCAAGG	0.532																																						uc002psx.1		NA																	0				large_intestine(2)	2						c.e3-1		SH3 and multiple ankyrin repeat domains 1							184.0	168.0	174.0					19																	51218989		2203	4300	6503	SO:0001630	splice_region_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51218989T>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.460-2A>T	19.37:g.51218989T>A							p.F154_splice	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	3	479	-		all_neural(266;0.057)						A8MXP5|B7WNY6|Q9NYW9	Splice_Site	SNP	ENST00000293441.1	37	c.460_splice	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.580985	0.46006	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	.	.	.	1.55	1.55	0.23275	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5417	0.33397	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHANK1	55910801	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	7.016000	0.76393	0.999000	0.39023	0.248000	0.18094	.		0.532	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	Intron	58	70	0	0	0	0	58	70				
NLRP2	55655	broad.mit.edu	37	19	55493937	55493937	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:55493937G>C	ENST00000543010.1	+	6	1014	c.871G>C	c.(871-873)Gat>Cat	p.D291H	NLRP2_ENST00000427260.2_Missense_Mutation_p.D268H|NLRP2_ENST00000391721.4_Missense_Mutation_p.D267H|NLRP2_ENST00000448584.2_Missense_Mutation_p.D291H|NLRP2_ENST00000263437.6_Missense_Mutation_p.D288H|NLRP2_ENST00000538819.1_Missense_Mutation_p.D267H|NLRP2_ENST00000339757.7_Missense_Mutation_p.D269H|NLRP2_ENST00000537859.1_Missense_Mutation_p.D269H	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	291	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGACGGCTTTGATGAGCTGGG	0.567																																						uc002qij.2		NA																	0				ovary(1)|skin(1)	2						c.(871-873)GAT>CAT		NLR family, pyrin domain containing 2							55.0	57.0	56.0					19																	55493937		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55493937G>C	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.871G>C	19.37:g.55493937G>C	ENSP00000445135:p.Asp291His					NLRP2_uc010yfp.1_Missense_Mutation_p.D268H|NLRP2_uc010esn.2_Missense_Mutation_p.D267H|NLRP2_uc010eso.2_Missense_Mutation_p.D288H|NLRP2_uc010esp.2_Missense_Mutation_p.D269H	p.D291H	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	957	+			291			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.871G>C	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194359	0.38806	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	D;D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	1.41	0.325	0.15903	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.93000	0.7772	M	0.84585	2.705	0.39963	D	0.974687	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.983;0.99;0.983;0.99	D	0.90507	0.4478	9	0.87932	D	0	.	5.7982	0.18399	0.194:0.0:0.806:0.0	.	268;269;288;267;291	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	H	291;267;269;291;269;268;267;288	ENSP00000445135:D291H;ENSP00000375601:D267H;ENSP00000344074:D269H;ENSP00000409370:D291H;ENSP00000440601:D269H;ENSP00000402474:D268H;ENSP00000441133:D267H;ENSP00000263437:D288H	ENSP00000263437:D288H	D	+	1	0	NLRP2	60185749	0.994000	0.37717	0.054000	0.19295	0.013000	0.08279	2.586000	0.46119	0.174000	0.19809	0.485000	0.47835	GAT		0.567	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		7	72	0	0	0	0	7	72				
ZNF418	147686	broad.mit.edu	37	19	58438123	58438123	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:58438123G>C	ENST00000396147.1	-	4	1717	c.1426C>G	c.(1426-1428)Cac>Gac	p.H476D	ZNF418_ENST00000595830.1_Missense_Mutation_p.H476D|ZNF418_ENST00000599852.1_Missense_Mutation_p.H391D|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000425570.3_Missense_Mutation_p.H497D	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TCTCCAGTGTGAACTCTCTGG	0.448																																						uc002qqs.1		NA																	0					0						c.(1426-1428)CAC>GAC		zinc finger protein 418							127.0	135.0	132.0					19																	58438123		2198	4300	6498	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58438123G>C	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1426C>G	19.37:g.58438123G>C	ENSP00000379451:p.His476Asp					ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.H391D	p.H476D	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	1718	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	476			C2H2-type 10.		Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.1426C>G	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	18.72	3.684767	0.68157	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.67698	-0.28;-0.28	2.59	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.87358	0.6157	H	0.97874	4.095	0.33222	D	0.554809	D	0.76494	0.999	D	0.87578	0.998	D	0.91640	0.5326	9	0.87932	D	0	.	12.2968	0.54852	0.0:0.0:1.0:0.0	.	476	Q8TF45	ZN418_HUMAN	D	476;497;442	ENSP00000379451:H476D;ENSP00000407039:H497D	ENSP00000379451:H476D	H	-	1	0	ZNF418	63129935	1.000000	0.71417	0.054000	0.19295	0.376000	0.30014	5.621000	0.67743	1.457000	0.47850	0.313000	0.20887	CAC		0.448	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		49	80	0	0	0	0	49	80				
ALK	238	broad.mit.edu	37	2	29474101	29474101	+	Missense_Mutation	SNP	C	C	T	rs373846404		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:29474101C>T	ENST00000389048.3	-	12	2980	c.2074G>A	c.(2074-2076)Ggg>Agg	p.G692R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	692					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CCATGGGGCCCGCTGGCCCCA	0.647			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(2074-2076)GGG>AGG		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)	C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	36.0	39.0	38.0		2074	5.2	1.0	2		38	0,8598		0,0,4299	no	missense	ALK	NM_004304.4	125	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	692/1621	29474101	1,13003	2203	4299	6502	SO:0001583	missense	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29474101C>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2074G>A	2.37:g.29474101C>T	ENSP00000373700:p.Gly692Arg						p.G692R	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			12	2981	-	Acute lymphoblastic leukemia(172;0.155)		692			Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.2074G>A	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126223	0.77549	2.27E-4	0.0	ENSG00000171094	ENST00000389048	D	0.97529	-4.42	5.19	5.19	0.71726	.	0.000000	0.48767	D	0.000173	D	0.98343	0.9450	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98567	1.0644	9	.	.	.	.	18.723	0.91703	0.0:1.0:0.0:0.0	.	692	Q9UM73	ALK_HUMAN	R	692	ENSP00000373700:G692R	.	G	-	1	0	ALK	29327605	1.000000	0.71417	0.984000	0.44739	0.273000	0.26683	7.492000	0.81482	2.583000	0.87209	0.561000	0.74099	GGG		0.647	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		4	24	0	0	0	0	4	24				
RNF103	7844	broad.mit.edu	37	2	86832193	86832193	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:86832193C>G	ENST00000237455.4	-	4	1799	c.831G>C	c.(829-831)atG>atC	p.M277I	RNF103-CHMP3_ENST00000604011.1_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000439940.2_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	277					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CAATATCTGTCATATAACTCT	0.363																																						uc002srn.2		NA																	0				central_nervous_system(1)	1						c.(829-831)ATG>ATC		ring finger protein 103							42.0	45.0	44.0					2																	86832193		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86832193C>G	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.831G>C	2.37:g.86832193C>G	ENSP00000237455:p.Met277Ile					VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Missense_Mutation_p.M138I|uc002sro.2_Intron	p.M277I	NM_005667	NP_005658	O00237	RN103_HUMAN			4	1800	-			277					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.831G>C	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	C	0.684	-0.797207	0.02862	.	.	ENSG00000239305	ENST00000237455	T	0.39592	1.07	5.1	5.1	0.69264	.	0.088182	0.85682	D	0.000000	T	0.31263	0.0791	L	0.35414	1.06	0.43207	D	0.995061	B	0.02656	0.0	B	0.01281	0.0	T	0.08126	-1.0737	10	0.20519	T	0.43	-18.0043	12.8981	0.58111	0.0:0.9215:0.0:0.0785	.	277	O00237	RN103_HUMAN	I	277	ENSP00000237455:M277I	ENSP00000237455:M277I	M	-	3	0	RNF103	86685704	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.116000	0.41930	2.392000	0.81423	0.460000	0.39030	ATG		0.363	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		5	30	0	0	0	0	5	30				
KYNU	8942	broad.mit.edu	37	2	143643039	143643039	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:143643039G>A	ENST00000410015.2	+	2	193	c.103G>A	c.(103-105)Gag>Aag	p.E35K	KYNU_ENST00000375773.2_Missense_Mutation_p.E35K|KYNU_ENST00000264170.4_Missense_Mutation_p.E35K|KYNU_ENST00000409512.1_Missense_Mutation_p.E35K					kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		CCACCTAGATGAGGAAGATAA	0.488																																						uc002tvl.2		NA																	0				skin(2)	2						c.(103-105)GAG>AAG		kynureninase (L-kynurenine hydrolase) isoform a	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						71.0	71.0	71.0					2																	143643039		2203	4300	6503	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143643039G>A	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000410015.2:c.103G>A	2.37:g.143643039G>A	ENSP00000387296:p.Glu35Lys					KYNU_uc002tvk.2_Missense_Mutation_p.E35K|KYNU_uc010fnm.2_Missense_Mutation_p.E35K	p.E35K	NM_003937	NP_003928	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	2	233	+			35						Missense_Mutation	SNP	ENST00000410015.2	37	c.103G>A		.	.	.	.	.	.	.	.	.	.	G	6.343	0.431443	0.12045	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512;ENST00000410015	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.09	1.22	0.21188	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.314930	0.34386	N	0.004016	T	0.31231	0.0790	L	0.29908	0.895	0.41476	D	0.988131	B;B	0.15719	0.014;0.001	B;B	0.11329	0.006;0.001	T	0.13124	-1.0521	10	0.07175	T	0.84	.	7.1377	0.25537	0.2072:0.1233:0.6695:0.0	.	35;35	Q16719;Q9BVW3	KYNU_HUMAN;.	K	35	ENSP00000264170:E35K;ENSP00000364928:E35K;ENSP00000386731:E35K;ENSP00000387296:E35K	ENSP00000264170:E35K	E	+	1	0	KYNU	143359509	1.000000	0.71417	0.295000	0.24960	0.098000	0.18820	2.674000	0.46867	0.043000	0.15746	-0.262000	0.10625	GAG		0.488	KYNU-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000332172.2	NM_001032998		12	35	0	0	0	0	12	35				
NEB	4703	broad.mit.edu	37	2	152512971	152512971	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:152512971T>C	ENST00000172853.10	-	49	6338	c.6191A>G	c.(6190-6192)tAc>tGc	p.Y2064C	NEB_ENST00000427231.2_Missense_Mutation_p.Y2064C|NEB_ENST00000397345.3_Missense_Mutation_p.Y2064C|NEB_ENST00000603639.1_Missense_Mutation_p.Y2064C|NEB_ENST00000409198.1_Missense_Mutation_p.Y2064C|NEB_ENST00000604864.1_Missense_Mutation_p.Y2064C			P20929	NEBU_HUMAN	nebulin	2064					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTGTACTTGTATTTATACTG	0.333																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(6190-6192)TAC>TGC		nebulin isoform 3							99.0	94.0	96.0					2																	152512971		1824	4088	5912	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152512971T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6191A>G	2.37:g.152512971T>C	ENSP00000172853:p.Tyr2064Cys						p.Y2064C	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	49	6382	-			2064			Nebulin 54.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.6191A>G		.	.	.	.	.	.	.	.	.	.	T	16.52	3.145023	0.57044	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	D;D;D;D	0.99958	-9.03;-9.03;-9.03;-9.03	5.62	5.62	0.85841	.	0.135734	0.51477	D	0.000095	D	0.99955	0.9981	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95373	0.8466	10	0.87932	D	0	.	15.8208	0.78644	0.0:0.0:0.0:1.0	.	2064	P20929	NEBU_HUMAN	C	2064	ENSP00000386259:Y2064C;ENSP00000380505:Y2064C;ENSP00000416578:Y2064C;ENSP00000172853:Y2064C	ENSP00000172853:Y2064C	Y	-	2	0	NEB	152221217	1.000000	0.71417	0.990000	0.47175	0.373000	0.29922	8.040000	0.89188	2.141000	0.66446	0.460000	0.39030	TAC		0.333	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		27	60	0	0	0	0	27	60				
LRP2	4036	broad.mit.edu	37	2	170009349	170009349	+	Missense_Mutation	SNP	C	C	A	rs150382715		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:170009349C>A	ENST00000263816.3	-	67	12706	c.12421G>T	c.(12421-12423)Gta>Tta	p.V4141L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4141					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GGCTGCATTACGTATTTCAGT	0.468																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(12421-12423)GTA>TTA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						218.0	206.0	210.0					2																	170009349		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170009349C>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12421G>T	2.37:g.170009349C>A	ENSP00000263816:p.Val4141Leu						p.V4141L	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	67	12634	-			4141			Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.12421G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	3.523	-0.097417	0.07010	.	.	ENSG00000081479	ENST00000263816	D	0.89810	-2.57	5.59	-0.497	0.12023	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.210809	0.46758	N	0.000267	T	0.73442	0.3587	N	0.25647	0.755	0.80722	D	1	B	0.13594	0.008	B	0.09377	0.004	T	0.59757	-0.7394	10	0.05436	T	0.98	.	5.1059	0.14783	0.1195:0.0897:0.1156:0.6752	.	4141	P98164	LRP2_HUMAN	L	4141	ENSP00000263816:V4141L	ENSP00000263816:V4141L	V	-	1	0	LRP2	169717595	0.055000	0.20627	0.353000	0.25747	0.960000	0.62799	-0.090000	0.11163	-0.241000	0.09681	-0.119000	0.15052	GTA		0.468	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		62	185	1	0	1.41e-22	1.8e-22	62	185				
TTN	7273	broad.mit.edu	37	2	179426874	179426874	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:179426874G>T	ENST00000591111.1	-	276	79286	c.79062C>A	c.(79060-79062)aaC>aaA	p.N26354K	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N18930K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N19122K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N27995K|TTN_ENST00000359218.5_Missense_Mutation_p.N19055K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N25427K|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26354	Ig-like 127.				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)			CTTTTCTCCAGTTCACAGTAG	0.383																																						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.(76279-76281)AAC>AAA		titin isoform N2-A							49.0	50.0	49.0					2																	179426874		1882	4120	6002	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179426874G>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.79062C>A	2.37:g.179426874G>T	ENSP00000465570:p.Asn26354Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N19122K|TTN_uc010zfi.1_Missense_Mutation_p.N19055K|TTN_uc010zfj.1_Missense_Mutation_p.N18930K	p.N25427K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	76505	-			26354					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.76281C>A		.	.	.	.	.	.	.	.	.	.	G	8.135	0.783850	0.16189	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	6.16	3.37	0.38596	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35711	0.0941	N	0.02802	-0.49	0.21984	N	0.999437	B;B;B;B	0.10296	0.003;0.003;0.003;0.003	B;B;B;B	0.15870	0.007;0.007;0.014;0.014	T	0.25882	-1.0119	9	0.87932	D	0	.	6.0812	0.19942	0.1987:0.0:0.6664:0.1349	.	18930;19055;19122;26354	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	25427;18930;19122;19055;18928	ENSP00000343764:N25427K;ENSP00000434586:N18930K;ENSP00000340554:N19122K;ENSP00000352154:N19055K	ENSP00000340554:N19122K	N	-	3	2	TTN	179135120	0.970000	0.33590	0.714000	0.30535	0.923000	0.55619	1.716000	0.37981	0.911000	0.36747	0.650000	0.86243	AAC		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	15	1	0	5.18e-06	6.26e-06	8	15				
CASP8	841	broad.mit.edu	37	2	202131421	202131421	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:202131421G>C	ENST00000432109.2	+	3	401	c.212G>C	c.(211-213)aGa>aCa	p.R71T	CASP8_ENST00000392258.3_Missense_Mutation_p.R71T|CASP8_ENST00000358485.4_Missense_Mutation_p.R130T|CASP8_ENST00000392259.2_Missense_Mutation_p.R71T|CASP8_ENST00000264275.5_Missense_Mutation_p.R71T|CASP8_ENST00000264274.9_Missense_Mutation_p.R71T|CASP8_ENST00000392266.3_Missense_Mutation_p.R71T|CASP8_ENST00000323492.7_Missense_Mutation_p.R71T	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	71	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CGAATTAATAGACTGGATTTG	0.458										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(211-213)AGA>ACA		caspase 8 isoform B precursor							65.0	66.0	66.0					2																	202131421		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202131421G>C	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.212G>C	2.37:g.202131421G>C	ENSP00000412523:p.Arg71Thr	HNSCC(4;0.00038)				CASP8_uc010ftc.1_Missense_Mutation_p.R71T|CASP8_uc002uxo.1_Missense_Mutation_p.R71T|CASP8_uc002uxp.1_Missense_Mutation_p.R71T|CASP8_uc002uxq.1_Missense_Mutation_p.R71T|CASP8_uc002uxs.1_Missense_Mutation_p.R71T|CASP8_uc002uxt.1_Missense_Mutation_p.R130T|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.R71T|CASP8_uc002uxw.1_Missense_Mutation_p.R71T|CASP8_uc002uxy.1_Missense_Mutation_p.R71T|CASP8_uc002uxx.1_Missense_Mutation_p.R71T|CASP8_uc010ftf.2_Missense_Mutation_p.R71T	p.R71T	NM_033355	NP_203519	Q14790	CASP8_HUMAN			3	421	+			71			DED 1.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.212G>C	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163374	0.57476	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	5.58	3.79	0.43588	DEATH-like (2);Death effector (3);	0.117372	0.64402	D	0.000015	D	0.94627	0.8268	H	0.94462	3.54	0.09310	N	1	P;D;D;D;D;D;D;D;D	0.76494	0.814;0.997;0.998;0.999;0.999;0.997;0.99;0.996;0.998	B;D;D;D;D;D;D;D;D	0.75484	0.38;0.976;0.959;0.986;0.976;0.982;0.929;0.959;0.941	D	0.88540	0.3109	10	0.72032	D	0.01	.	11.5745	0.50854	0.1282:0.0:0.8718:0.0	.	71;71;71;71;130;71;71;71;71	Q14790-3;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;CASP8_HUMAN;.;.;.	T	71;71;71;71;71;71;71;71;71;130;71;71;71;71	ENSP00000376091:R71T;ENSP00000264274:R71T;ENSP00000376088:R71T;ENSP00000376094:R71T;ENSP00000412523:R71T;ENSP00000264275:R71T;ENSP00000396869:R71T;ENSP00000376087:R71T;ENSP00000388306:R71T;ENSP00000351273:R130T;ENSP00000397528:R71T;ENSP00000325722:R71T;ENSP00000390641:R71T	ENSP00000264274:R71T	R	+	2	0	CASP8	201839666	0.960000	0.32886	0.003000	0.11579	0.007000	0.05969	5.608000	0.67654	0.718000	0.32166	0.561000	0.74099	AGA		0.458	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		18	37	0	0	0	0	18	37				
ABCB6	10058	broad.mit.edu	37	2	220077120	220077120	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:220077120C>G	ENST00000265316.3	-	14	2273	c.1957G>C	c.(1957-1959)Gac>Cac	p.D653H	ABCB6_ENST00000439002.2_Missense_Mutation_p.D607H	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	653	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTGAAATGTCCTGCCCATCT	0.552																																						uc002vkc.1		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1957-1959)GAC>CAC		ATP-binding cassette, sub-family B, member 6							109.0	108.0	109.0					2																	220077120		2203	4300	6503	SO:0001583	missense	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220077120C>G	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1957G>C	2.37:g.220077120C>G	ENSP00000265316:p.Asp653His					ABCB6_uc010fwe.1_Missense_Mutation_p.D607H	p.D653H	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	2234	-		Renal(207;0.0474)	653			ABC transporter.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	c.1957G>C	CCDS2436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.319935|4.319935	0.81469|0.81469	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000265316;ENST00000439002|ENST00000295750	D;D|.	0.91996|.	-2.95;-2.95|.	4.71|4.71	3.83|3.83	0.44106|0.44106	ATPase, AAA+ type, core (1);ABC transporter-like (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75295|0.75295	0.3830|0.3830	M|M	0.85777|0.85777	2.775|2.775	0.80722|0.80722	D|D	1|1	D;D|.	0.61080|.	0.975;0.989|.	P;P|.	0.54346|.	0.707;0.749|.	T|T	0.77319|0.77319	-0.2632|-0.2632	10|5	0.72032|.	D|.	0.01|.	-29.4997|-29.4997	10.6384|10.6384	0.45579|0.45579	0.0:0.84:0.0:0.16|0.0:0.84:0.0:0.16	.|.	607;653|.	Q9NP58-4;Q9NP58|.	.;ABCB6_HUMAN|.	H|S	653;607|500	ENSP00000265316:D653H;ENSP00000394333:D607H|.	ENSP00000265316:D653H|.	D|R	-|-	1|3	0|2	ABCB6|ABCB6	219785364|219785364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.541000|4.541000	0.60670|0.60670	1.332000|1.332000	0.45431|0.45431	0.655000|0.655000	0.94253|0.94253	GAC|AGG		0.552	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		8	54	0	0	0	0	8	54				
EPHA4	2043	broad.mit.edu	37	2	222347096	222347096	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:222347096C>G	ENST00000281821.2	-	5	1335	c.1294G>C	c.(1294-1296)Gtc>Ctc	p.V432L	EPHA4_ENST00000409938.1_Missense_Mutation_p.V432L|EPHA4_ENST00000409854.1_Missense_Mutation_p.V432L|EPHA4_ENST00000392071.4_Missense_Mutation_p.V381L	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	432	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		GTCACAGTGACAGAAACTGAT	0.378																																						uc002vmq.2		NA																	0				lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12						c.(1294-1296)GTC>CTC		ephrin receptor EphA4 precursor							173.0	169.0	170.0					2																	222347096		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222347096C>G	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.1294G>C	2.37:g.222347096C>G	ENSP00000281821:p.Val432Leu					EPHA4_uc002vmr.2_Missense_Mutation_p.V432L|EPHA4_uc010zlm.1_Missense_Mutation_p.V373L|EPHA4_uc010zln.1_Missense_Mutation_p.V432L	p.V432L	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)	5	1336	-		Renal(207;0.0183)	432			Extracellular (Potential).|Fibronectin type-III 1.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.1294G>C	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972162	0.92919	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000443796	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	6.06	6.06	0.98353	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.57888	0.2084	L	0.60455	1.87	0.80722	D	1	P	0.51791	0.948	P	0.44772	0.46	T	0.60005	-0.7347	10	0.56958	D	0.05	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	432	P54764	EPHA4_HUMAN	L	432;432;432;381;136	ENSP00000281821:V432L;ENSP00000386276:V432L;ENSP00000386829:V432L;ENSP00000375923:V381L;ENSP00000395917:V136L	ENSP00000281821:V432L	V	-	1	0	EPHA4	222055340	1.000000	0.71417	0.985000	0.45067	0.975000	0.68041	7.760000	0.85248	2.882000	0.98803	0.655000	0.94253	GTC		0.378	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			14	140	0	0	0	0	14	140				
UGT1A3	54659	broad.mit.edu	37	2	234637859	234637859	+	Silent	SNP	A	A	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:234637859A>G	ENST00000482026.1	+	1	106	c.87A>G	c.(85-87)ggA>ggG	p.G29G	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609767.1_Silent_p.G29G|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	29					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	CTGAGAGTGGAAAGGTGTTGG	0.632																																						uc002vuy.2		NA																	0				ovary(1)	1						c.(85-87)GGA>GGG		UDP glycosyltransferase 1 family, polypeptide A3							62.0	61.0	62.0					2																	234637859		2203	4300	6503	SO:0001819	synonymous_variant	54659				flavonoid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding	g.chr2:234637859A>G	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.87A>G	2.37:g.234637859A>G						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Silent_p.G29G	p.G29G	NM_019093	NP_061966	P35503	UD13_HUMAN		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	87	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)	29					B8K287	Silent	SNP	ENST00000482026.1	37	c.87A>G	CCDS2509.1																																																																																				0.632	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		7	50	0	0	0	0	7	50				
UGT1A3	54659	broad.mit.edu	37	2	234637866	234637866	+	Silent	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:234637866T>C	ENST00000482026.1	+	1	113	c.94T>C	c.(94-96)Ttg>Ctg	p.L32L	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609767.1_Silent_p.L32L|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	32					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	TGGAAAGGTGTTGGTGGTGCC	0.637																																						uc002vuy.2		NA																	0				ovary(1)	1						c.(94-96)TTG>CTG		UDP glycosyltransferase 1 family, polypeptide A3							63.0	62.0	63.0					2																	234637866		2203	4300	6503	SO:0001819	synonymous_variant	54659				flavonoid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding	g.chr2:234637866T>C	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.94T>C	2.37:g.234637866T>C						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Silent_p.L32L	p.L32L	NM_019093	NP_061966	P35503	UD13_HUMAN		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	94	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)	32					B8K287	Silent	SNP	ENST00000482026.1	37	c.94T>C	CCDS2509.1																																																																																				0.637	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		6	55	0	0	0	0	6	55				
SLC4A11	83959	broad.mit.edu	37	20	3211607	3211607	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:3211607G>A	ENST00000380056.3	-	9	1235	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L	SLC4A11_ENST00000539553.2_Silent_p.L380L|SLC4A11_ENST00000380059.3_Silent_p.L423L|SLC4A11_ENST00000488544.1_5'Flank	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	396	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TCTCGTCATTGAGAGACCCGA	0.627																																					NSCLC(190;922 2139 10266 10292 38692)	uc002wig.2		NA																	0				ovary(1)	1						c.(1186-1188)CTC>CTT		solute carrier family 4 member 11							138.0	129.0	132.0					20																	3211607		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3211607G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1188C>T	20.37:g.3211607G>A						SLC4A11_uc010zqe.1_Silent_p.L423L|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Silent_p.L380L	p.L396L	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN			9	1236	-			396			Helical; (Potential).|Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.1188C>T	CCDS13052.1																																																																																				0.627	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			11	101	0	0	0	0	11	101				
CENPB	1059	broad.mit.edu	37	20	3766629	3766629	+	Missense_Mutation	SNP	T	T	C	rs201262188		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:3766629T>C	ENST00000379751.4	-	1	708	c.502A>G	c.(502-504)Agc>Ggc	p.S168G	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	168					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCAGTAGTGCTCCCGCCACTG	0.756																																						uc002wjk.2		NA																	0					0						c.(502-504)AGC>GGC		centromere protein B							5.0	6.0	6.0					20																	3766629		1580	3126	4706	SO:0001583	missense	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3766629T>C	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.502A>G	20.37:g.3766629T>C	ENSP00000369075:p.Ser168Gly					CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	p.S168G	NM_001810	NP_001801	P07199	CENPB_HUMAN			1	709	-			168					Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	c.502A>G	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	t	8.057	0.767307	0.15983	.	.	ENSG00000125817	ENST00000379751	T	0.18338	2.22	2.92	0.573	0.17363	.	.	.	.	.	T	0.06508	0.0167	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39921	-0.9590	9	0.25751	T	0.34	-2.71	4.4703	0.11708	0.0:0.4072:0.0:0.5928	.	168	P07199	CENPB_HUMAN	G	168	ENSP00000369075:S168G	ENSP00000369075:S168G	S	-	1	0	CENPB	3714629	0.316000	0.24580	0.145000	0.22337	0.526000	0.34562	1.058000	0.30504	-0.154000	0.11118	0.166000	0.16787	AGC		0.756	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		2	4	0	0	0	0	2	4				
ESF1	51575	broad.mit.edu	37	20	13763716	13763716	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:13763716T>G	ENST00000202816.1	-	2	178	c.71A>C	c.(70-72)gAa>gCa	p.E24A	NDUFAF5_ENST00000378106.5_5'Flank|NDUFAF5_ENST00000463598.1_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTCTGGCATTTCCCAAAATCT	0.398																																						uc002woj.2		NA																	0				ovary(1)	1						c.(70-72)GAA>GCA		ABT1-associated protein							50.0	49.0	49.0					20																	13763716		2203	4300	6503	SO:0001583	missense	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13763716T>G		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.71A>C	20.37:g.13763716T>G	ENSP00000202816:p.Glu24Ala					ESF1_uc002wok.1_Missense_Mutation_p.E24A|C20orf7_uc002wol.1_5'Flank|C20orf7_uc002wom.2_5'Flank|C20orf7_uc002won.2_5'Flank|C20orf7_uc002woo.2_5'Flank	p.E24A	NM_016649	NP_057733	Q9H501	ESF1_HUMAN			2	179	-			24					Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	c.71A>C	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.353887	0.82243	.	.	ENSG00000089048	ENST00000202816;ENST00000541185	T	0.23348	1.91	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.37404	0.1002	L	0.39514	1.22	0.58432	D	0.999998	D	0.71674	0.998	D	0.81914	0.995	T	0.08659	-1.0711	10	0.10377	T	0.69	.	13.9559	0.64147	0.0:0.0:0.0:1.0	.	24	Q9H501	ESF1_HUMAN	A	24	ENSP00000202816:E24A	ENSP00000202816:E24A	E	-	2	0	ESF1	13711716	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	1.765000	0.52091	0.383000	0.25322	GAA		0.398	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		14	77	0	0	0	0	14	77				
MYH7B	57644	broad.mit.edu	37	20	33582110	33582110	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:33582110C>T	ENST00000262873.7	+	25	2824	c.2732C>T	c.(2731-2733)gCg>gTg	p.A911V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	869						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TTGCGAGGGGCGCTGGCTGCG	0.662																																						uc002xbi.1		NA																	0				ovary(1)|breast(1)	2						c.(2731-2733)GCG>GTG		myosin, heavy polypeptide 7B, cardiac muscle,							33.0	42.0	39.0					20																	33582110		1998	4160	6158	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33582110C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2732C>T	20.37:g.33582110C>T	ENSP00000262873:p.Ala911Val						p.A911V	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		25	2824	+			869			Potential.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.2732C>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025189	0.93518	.	.	ENSG00000078814	ENST00000262873	D	0.82984	-1.67	4.32	4.32	0.51571	.	0.000000	0.37669	N	0.001988	D	0.88908	0.6565	M	0.82517	2.595	0.42555	D	0.993127	D	0.71674	0.998	P	0.54238	0.746	D	0.89511	0.3771	10	0.39692	T	0.17	.	17.3665	0.87365	0.0:1.0:0.0:0.0	.	869	A7E2Y1	MYH7B_HUMAN	V	911	ENSP00000262873:A911V	ENSP00000262873:A911V	A	+	2	0	MYH7B	33045771	1.000000	0.71417	0.940000	0.37924	0.931000	0.56810	4.709000	0.61867	2.409000	0.81822	0.655000	0.94253	GCG		0.662	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		12	186	0	0	0	0	12	186				
SULF2	55959	broad.mit.edu	37	20	46386015	46386015	+	Silent	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:46386015C>G	ENST00000359930.4	-	2	944	c.93G>C	c.(91-93)ctG>ctC	p.L31L	SULF2_ENST00000484875.1_Silent_p.L31L|SULF2_ENST00000467815.1_Silent_p.L31L|SULF2_ENST00000361612.4_Silent_p.L31L	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	31					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ACCTGCCTTTCAGGCGGTGGT	0.627																																						uc002xto.2		NA																	0				ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(91-93)CTG>CTC		sulfatase 2 isoform a precursor							59.0	42.0	48.0					20																	46386015		2202	4296	6498	SO:0001819	synonymous_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46386015C>G	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.93G>C	20.37:g.46386015C>G						SULF2_uc002xtr.2_Silent_p.L31L|SULF2_uc002xtq.2_Silent_p.L31L|SULF2_uc010ghv.1_Silent_p.L31L	p.L31L	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			2	423	-			31					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	c.93G>C	CCDS13408.1																																																																																				0.627	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		9	10	0	0	0	0	9	10				
HELZ2	85441	broad.mit.edu	37	20	62198219	62198219	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:62198219C>G	ENST00000467148.1	-	6	2561	c.2492G>C	c.(2491-2493)tGt>tCt	p.C831S	HELZ2_ENST00000427522.2_Missense_Mutation_p.C262S	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	831	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GGAAACGACACAGATGCACCT	0.692																																						uc002yfm.2		NA																	0				central_nervous_system(2)	2						c.(2491-2493)TGT>TCT		PPAR-alpha interacting complex protein 285							34.0	38.0	36.0					20																	62198219		2199	4297	6496	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62198219C>G	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2492G>C	20.37:g.62198219C>G	ENSP00000417401:p.Cys831Ser					PRIC285_uc002yfl.1_Missense_Mutation_p.C262S	p.C831S	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		7	3384	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		831					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.2492G>C	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132129	0.56828	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.81821	-1.54;-1.54	5.13	5.13	0.70059	.	0.155442	0.64402	D	0.000020	D	0.86335	0.5908	L	0.43701	1.375	0.50171	D	0.999858	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87633	0.2517	10	0.72032	D	0.01	-20.4443	16.7672	0.85527	0.0:1.0:0.0:0.0	.	831;262	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	S	262;831	ENSP00000393257:C262S;ENSP00000417401:C831S	ENSP00000393257:C262S	C	-	2	0	RP4-697K14.7	61668663	1.000000	0.71417	0.928000	0.36995	0.006000	0.05464	6.804000	0.75186	2.399000	0.81585	0.561000	0.74099	TGT		0.692	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		10	68	0	0	0	0	10	68				
GGT5	2687	broad.mit.edu	37	22	24621019	24621019	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr22:24621019G>A	ENST00000327365.4	-	11	1975	c.1559C>T	c.(1558-1560)cCc>cTc	p.P520L	GGT5_ENST00000263112.7_Missense_Mutation_p.P488L|GGT5_ENST00000418439.2_Missense_Mutation_p.P444L|GGT5_ENST00000398292.3_Missense_Mutation_p.P521L	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	520					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						ATGCAGGATGGGGGCTGCAAT	0.612																																						uc002zzo.3		NA																	0				ovary(2)|skin(1)	3						c.(1558-1560)CCC>CTC		gamma-glutamyltransferase 5 isoform b							37.0	30.0	33.0					22																	24621019		2201	4300	6501	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24621019G>A	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1559C>T	22.37:g.24621019G>A	ENSP00000330080:p.Pro520Leu					GGT5_uc002zzp.3_Missense_Mutation_p.P521L|GGT5_uc002zzr.3_Missense_Mutation_p.P488L|GGT5_uc002zzq.3_Missense_Mutation_p.P488L|GGT5_uc011ajm.1_Missense_Mutation_p.P444L	p.P520L	NM_004121	NP_004112	P36269	GGT5_HUMAN			11	1976	-			520			Extracellular (Potential).		Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.1559C>T	CCDS13825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.39|16.39	3.108677|3.108677	0.56291|0.56291	.|.	.|.	ENSG00000099998|ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439|ENST00000425408	T;T;T;T|T	0.51574|0.51071	0.7;0.7;0.7;0.7|0.72	4.54|4.54	3.5|3.5	0.40072|0.40072	.|.	0.167812|0.167812	0.53938|0.53938	D|D	0.000045|0.000045	T|T	0.69753|0.69753	0.3146|0.3146	M|M	0.90977|0.90977	3.165|3.165	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D|.	0.89917|.	1.0;0.994;0.995;0.967;0.995|.	D;D;D;P;D|.	0.79784|.	0.993;0.92;0.952;0.838;0.952|.	T|T	0.76121|0.76121	-0.3075|-0.3075	10|8	0.87932|0.87932	D|D	0|0	-17.7668|-17.7668	11.1798|11.1798	0.48620|0.48620	0.0:0.1875:0.8125:0.0|0.0:0.1875:0.8125:0.0	.|.	444;488;520;521;520|.	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269|.	.;.;.;.;GGT5_HUMAN|.	L|S	520;488;435;521;444|123	ENSP00000330080:P520L;ENSP00000263112:P488L;ENSP00000381340:P521L;ENSP00000392146:P444L|ENSP00000402917:P123S	ENSP00000263112:P488L|ENSP00000402917:P123S	P|P	-|-	2|1	0|0	GGT5|GGT5	22951019|22951019	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.412000|0.412000	0.31113|0.31113	5.869000|5.869000	0.69613|0.69613	1.186000|1.186000	0.42985|0.42985	0.650000|0.650000	0.86243|0.86243	CCC|CCA		0.612	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		3	8	0	0	0	0	3	8				
ZNRF3	84133	broad.mit.edu	37	22	29446049	29446049	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr22:29446049C>G	ENST00000544604.2	+	8	2055	c.1880C>G	c.(1879-1881)tCc>tGc	p.S627C	ZNRF3_ENST00000402174.1_Missense_Mutation_p.S527C|ZNRF3_ENST00000406323.3_Missense_Mutation_p.S527C|ZNRF3_ENST00000332811.4_Missense_Mutation_p.S527C	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	627					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						TTCGAGGGCTCCCCGCCTCCC	0.731																																						uc003aeg.2		NA																	0				ovary(1)	1						c.(1579-1581)TCC>TGC		zinc and ring finger 3							24.0	28.0	27.0					22																	29446049		1901	4078	5979	SO:0001583	missense	84133					integral to membrane	zinc ion binding	g.chr22:29446049C>G	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.1880C>G	22.37:g.29446049C>G	ENSP00000443824:p.Ser627Cys					ZNRF3_uc003aeh.1_Missense_Mutation_p.S527C	p.S527C	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN			8	1745	+			627			Cytoplasmic (Potential).		B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	c.1580C>G	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250676	0.39797	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	4.44	3.39	0.38822	.	0.579760	0.17445	N	0.174000	T	0.81559	0.4848	L	0.44542	1.39	0.33808	D	0.627554	D	0.71674	0.998	P	0.56700	0.804	D	0.84414	0.0567	10	0.40728	T	0.16	-7.0E-4	12.0011	0.53230	0.0:0.8255:0.1745:0.0	.	627	Q9ULT6	ZNRF3_HUMAN	C	627;527;334;527;527	ENSP00000443824:S627C;ENSP00000328614:S527C;ENSP00000384456:S527C;ENSP00000384553:S527C	ENSP00000328614:S527C	S	+	2	0	ZNRF3	27776049	1.000000	0.71417	0.981000	0.43875	0.065000	0.16274	3.909000	0.56363	1.180000	0.42898	0.650000	0.86243	TCC		0.731	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		19	40	0	0	0	0	19	40				
APOBEC3H	164668	broad.mit.edu	37	22	39497291	39497291	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr22:39497291G>A	ENST00000401756.1	+	3	276	c.200G>A	c.(199-201)gGa>gAa	p.G67E	APOBEC3H_ENST00000442487.3_Missense_Mutation_p.G67E|APOBEC3H_ENST00000421988.2_Missense_Mutation_p.G67E|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.G67E	NM_001166003.1	NP_001159475.1	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	67	CMP/dCMP deaminase zinc-binding.				cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|hematopoietic progenitor cell differentiation (GO:0002244)|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)|negative regulation of viral process (GO:0048525)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					AAGTCCATGGGACTGGACGAA	0.542																																						uc011aoh.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(199-201)GGA>GAA		apolipoprotein B mRNA editing enzyme, catalytic							122.0	97.0	106.0					22																	39497291		2203	4300	6503	SO:0001583	missense	164668				DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding	g.chr22:39497291G>A	BC069023	CCDS13985.1, CCDS54530.1, CCDS54531.1, CCDS54532.1	22q13.1	2007-02-01			ENSG00000100298	ENSG00000100298		"""Apolipoprotein B mRNA editing enzymes"""	24100	protein-coding gene	gene with protein product		610976				16571802	Standard	NM_001166003		Approved	ARP10	uc021wpt.1	Q6NTF7	OTTHUMG00000151082	ENST00000401756.1:c.200G>A	22.37:g.39497291G>A	ENSP00000385741:p.Gly67Glu					APOBEC3H_uc011aoi.1_5'Flank|APOBEC3H_uc003axa.3_5'Flank	p.G67E	NM_181773	NP_861438	Q6NTF7	ABC3H_HUMAN			3	266	+	Melanoma(58;0.04)		67					B0QYP0|B0QYP1|B7TQM5|E9PF38|Q5JYL9|Q6IC87	Missense_Mutation	SNP	ENST00000401756.1	37	c.200G>A	CCDS54530.1	.	.	.	.	.	.	.	.	.	.	.	0.714	-0.785989	0.02907	.	.	ENSG00000100298	ENST00000348946;ENST00000442487;ENST00000421988;ENST00000401756	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	3.33	-6.67	0.01783	.	.	.	.	.	T	0.45935	0.1367	L	0.38175	1.15	0.09310	N	1	B	0.24576	0.106	B	0.35039	0.194	T	0.45833	-0.9234	9	0.07990	T	0.79	-16.3517	9.1461	0.36933	0.2562:0.1412:0.6026:0.0	.	67	B7TQM3	.	E	67	ENSP00000216123:G67E;ENSP00000411754:G67E;ENSP00000393520:G67E;ENSP00000385741:G67E	ENSP00000216123:G67E	G	+	2	0	APOBEC3H	37827237	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.472000	0.06623	-2.022000	0.00938	-0.384000	0.06662	GGA		0.542	APOBEC3H-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321230.1	NM_181773		24	60	0	0	0	0	24	60				
HDAC10	83933	broad.mit.edu	37	22	50687866	50687866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr22:50687866C>T	ENST00000216271.5	-	7	933	c.581G>A	c.(580-582)tGg>tAg	p.W194*	HDAC10_ENST00000448072.1_Nonsense_Mutation_p.W194*|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000349505.4_Nonsense_Mutation_p.W194*	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	194	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATAGCGGTGCCAGGAGAAGTA	0.617																																						uc003bkg.2		NA																	0					0						c.(580-582)TGG>TAG		histone deacetylase 10 isoform 1							40.0	40.0	40.0					22																	50687866		2200	4296	6496	SO:0001587	stop_gained	83933				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)	g.chr22:50687866C>T	AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.581G>A	22.37:g.50687866C>T	ENSP00000216271:p.Trp194*					HDAC10_uc003bke.2_5'UTR|HDAC10_uc003bkf.2_5'UTR|HDAC10_uc010hav.2_Nonsense_Mutation_p.W194*|HDAC10_uc003bkh.2_Missense_Mutation_p.G23S|HDAC10_uc003bki.2_Nonsense_Mutation_p.W194*|HDAC10_uc003bkj.2_Intron|HDAC10_uc003bkk.1_5'Flank	p.W194*	NM_032019	NP_114408	Q969S8	HDA10_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	7	954	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	194			Histone deacetylase.		Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Nonsense_Mutation	SNP	ENST00000216271.5	37	c.581G>A	CCDS14088.1	.	.	.	.	.	.	.	.	.	.	C	35	5.453593	0.96223	.	.	ENSG00000100429	ENST00000216271;ENST00000448072;ENST00000349505	.	.	.	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-16.6148	12.557	0.56258	0.1663:0.8337:0.0:0.0	.	.	.	.	X	194	.	ENSP00000216271:W194X	W	-	2	0	HDAC10	49029993	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.430000	0.52807	2.342000	0.79632	0.561000	0.74099	TGG		0.617	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4	NM_032019		4	46	0	0	0	0	4	46				
GRM7	2917	broad.mit.edu	37	3	7188209	7188209	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr3:7188209G>A	ENST00000357716.4	+	2	864	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GRM7_ENST00000403881.1_Missense_Mutation_p.R197H|GRM7_ENST00000389336.4_Missense_Mutation_p.R197H|GRM7_ENST00000486284.1_Missense_Mutation_p.R197H|GRM7_ENST00000402647.2_Missense_Mutation_p.R197H	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	197					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TTCTTCTCTCGCGTGGTGCCA	0.522																																						uc003bqm.2		NA																	0				ovary(4)|lung(3)	7						c.(589-591)CGC>CAC		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						129.0	115.0	119.0					3																	7188209		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7188209G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.590G>A	3.37:g.7188209G>A	ENSP00000350348:p.Arg197His					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.R197H|GRM7_uc003bql.2_Missense_Mutation_p.R197H	p.R197H	NM_000844	NP_000835	Q14831	GRM7_HUMAN			2	864	+			197			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.590G>A	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508291	0.85282	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82	5.87	5.87	0.94306	Extracellular ligand-binding receptor (1);	0.123598	0.53938	D	0.000052	D	0.97145	0.9067	H	0.96269	3.795	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.995;0.999	D	0.97669	1.0165	10	0.87932	D	0	.	19.1458	0.93467	0.0:0.0:1.0:0.0	.	197;197;197	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	H	197	ENSP00000350348:R197H;ENSP00000417536:R197H;ENSP00000373987:R197H;ENSP00000385664:R197H;ENSP00000384585:R197H	ENSP00000350348:R197H	R	+	2	0	GRM7	7163209	1.000000	0.71417	0.307000	0.25127	0.308000	0.27856	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CGC		0.522	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		16	57	0	0	0	0	16	57				
TRANK1	9881	broad.mit.edu	37	3	36872599	36872599	+	Silent	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr3:36872599T>C	ENST00000429976.2	-	21	8590	c.8343A>G	c.(8341-8343)gaA>gaG	p.E2781E	TRANK1_ENST00000301807.6_Silent_p.E2231E|TRANK1_ENST00000428977.2_Silent_p.E2231E	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2781							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCTGGTGGTGTTCTAGATGGA	0.552																																						uc003cgj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(6691-6693)GAA>GAG		lupus brain antigen 1							157.0	160.0	159.0					3																	36872599		2091	4211	6302	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36872599T>C	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8343A>G	3.37:g.36872599T>C							p.E2231E	NM_014831	NP_055646	O15050	TRNK1_HUMAN			12	6995	-			2781					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.6693A>G	CCDS46789.2																																																																																				0.552	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		38	65	0	0	0	0	38	65				
COL6A6	131873	broad.mit.edu	37	3	130285812	130285812	+	Missense_Mutation	SNP	G	G	A	rs371953457		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr3:130285812G>A	ENST00000358511.6	+	4	1580	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	COL6A6_ENST00000453409.2_Missense_Mutation_p.A517T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	517	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.A517>?(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAACACAGGCGCAGCACTGAA	0.448																																						uc010htl.2		NA																	1	Complex(1)		large_intestine(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(1549-1551)GCA>ACA		collagen type VI alpha 6 precursor		G	THR/ALA	0,3864		0,0,1932	85.0	88.0	87.0		1549	5.2	0.6	3		87	1,8299		0,1,4149	no	missense	COL6A6	NM_001102608.1	58	0,1,6081	AA,AG,GG		0.012,0.0,0.0082	probably-damaging	517/2264	130285812	1,12163	1932	4150	6082	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130285812G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1549G>A	3.37:g.130285812G>A	ENSP00000351310:p.Ala517Thr						p.A517T	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			4	1580	+			517			VWFA 3.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1549G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538975	0.27475	0.0	1.2E-4	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.83914	-1.78;-1.78	5.18	5.18	0.71444	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000013	D	0.86331	0.5907	L	0.52011	1.625	0.20196	N	0.999926	D	0.76494	0.999	D	0.65573	0.936	T	0.77512	-0.2560	10	0.22706	T	0.39	.	13.0633	0.59020	0.0796:0.0:0.9203:0.0	.	517	A6NMZ7	CO6A6_HUMAN	T	517	ENSP00000351310:A517T;ENSP00000399236:A517T	ENSP00000351310:A517T	A	+	1	0	COL6A6	131768502	0.003000	0.15002	0.586000	0.28679	0.252000	0.25951	1.643000	0.37217	2.412000	0.81896	0.561000	0.74099	GCA		0.448	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		27	93	0	0	0	0	27	93				
GC	2638	broad.mit.edu	37	4	72623827	72623827	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr4:72623827C>T	ENST00000273951.8	-	7	1106	c.763G>A	c.(763-765)Gct>Act	p.A255T	GC_ENST00000504199.1_Missense_Mutation_p.A274T|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.A255T|RNA5SP163_ENST00000410304.1_RNA	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	255	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	ATATCTTCAGCTAGTGGCAAA	0.373																																						uc003hge.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(763-765)GCT>ACT		vitamin D-binding protein precursor	Cholecalciferol(DB00169)						141.0	134.0	136.0					4																	72623827		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72623827C>T	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.763G>A	4.37:g.72623827C>T	ENSP00000273951:p.Ala255Thr					GC_uc003hgd.2_Missense_Mutation_p.A133T|GC_uc010iie.2_Missense_Mutation_p.A255T|GC_uc010iif.2_Missense_Mutation_p.A274T	p.A255T	NM_000583	NP_000574	P02774	VTDB_HUMAN	Lung(101;0.148)		7	916	-		all_hematologic(202;0.107)	255			Albumin 2.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.763G>A	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549537	0.65311	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	D;D;D	0.86297	-2.1;-2.1;-2.1	5.67	4.77	0.60923	.	0.200661	0.43260	D	0.000581	D	0.92364	0.7577	M	0.71581	2.175	0.40573	D	0.981325	D;D	0.76494	0.989;0.999	P;D	0.73380	0.86;0.98	D	0.93146	0.6545	10	0.72032	D	0.01	.	15.0635	0.71973	0.1426:0.8574:0.0:0.0	.	274;255	D6RAK8;D6RF35	.;.	T	255;274;255	ENSP00000273951:A255T;ENSP00000421725:A274T;ENSP00000426683:A255T	ENSP00000273951:A255T	A	-	1	0	GC	72842691	0.974000	0.33945	0.998000	0.56505	0.378000	0.30076	2.329000	0.43876	2.670000	0.90874	0.650000	0.86243	GCT		0.373	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			13	62	0	0	0	0	13	62				
DCHS2	54798	broad.mit.edu	37	4	155158175	155158175	+	Silent	SNP	G	G	A	rs141912971		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr4:155158175G>A	ENST00000357232.4	-	25	6263	c.6264C>T	c.(6262-6264)aaC>aaT	p.N2088N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2088	Cadherin 18. {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)		GGGCATAATTGTTCATATCTT	0.398																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(6262-6264)AAC>AAT		dachsous 2 isoform 1							137.0	136.0	136.0					4																	155158175		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155158175G>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.6264C>T	4.37:g.155158175G>A							p.N2088N	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	6264	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2088			Cadherin 18.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.6264C>T	CCDS3785.1																																																																																				0.398	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		18	67	0	0	0	0	18	67				
CTSO	1519	broad.mit.edu	37	4	156860670	156860670	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr4:156860670G>A	ENST00000433477.3	-	4	474	c.405C>T	c.(403-405)ttC>ttT	p.F135F		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	142					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCACCACGCTGAAGGCCCAGC	0.433																																					Pancreas(148;2303 2598 8989 35298)	uc003ipg.2		NA																	0					0						c.(403-405)TTC>TTT		cathepsin O preproprotein							100.0	106.0	104.0					4																	156860670		2203	4300	6503	SO:0001819	synonymous_variant	1519				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr4:156860670G>A	X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"""Cathepsins"""	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.405C>T	4.37:g.156860670G>A							p.F135F	NM_001334	NP_001325	P43234	CATO_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)	4	454	-	all_hematologic(180;0.24)	Renal(120;0.0458)	135					Q6FHS6	Silent	SNP	ENST00000433477.3	37	c.405C>T	CCDS3794.1																																																																																				0.433	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334		15	87	0	0	0	0	15	87				
RICTOR	253260	broad.mit.edu	37	5	38950723	38950723	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:38950723G>C	ENST00000357387.3	-	31	3257	c.3227C>G	c.(3226-3228)tCt>tGt	p.S1076C	RICTOR_ENST00000296782.5_Missense_Mutation_p.S1076C	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TATGGGTCCAGATCGGTCATA	0.368																																						uc003jlp.2		NA																	0				ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(3226-3228)TCT>TGT		rapamycin-insensitive companion of mTOR							122.0	128.0	126.0					5																	38950723		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38950723G>C		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3227C>G	5.37:g.38950723G>C	ENSP00000349959:p.Ser1076Cys					RICTOR_uc003jlo.2_Missense_Mutation_p.S1076C|RICTOR_uc010ivf.2_Missense_Mutation_p.S791C	p.S1076C	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			31	3251	-	all_lung(31;0.000396)		1076						Missense_Mutation	SNP	ENST00000357387.3	37	c.3227C>G	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812127	0.50527	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.49720	0.77;0.77	5.86	5.86	0.93980	.	0.251334	0.48286	D	0.000186	T	0.42223	0.1193	L	0.34521	1.04	0.37440	D	0.914399	P;P	0.43169	0.8;0.8	B;B	0.39562	0.303;0.303	T	0.50693	-0.8798	10	0.66056	D	0.02	-8.9778	18.7433	0.91782	0.0:0.0:1.0:0.0	.	1076;1076	Q6R327;Q6R327-3	RICTR_HUMAN;.	C	1076	ENSP00000349959:S1076C;ENSP00000296782:S1076C	ENSP00000296782:S1076C	S	-	2	0	RICTOR	38986480	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.758000	0.91663	2.937000	0.99478	0.650000	0.86243	TCT		0.368	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		16	93	0	0	0	0	16	93				
ITGA2	3673	broad.mit.edu	37	5	52366018	52366018	+	Silent	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:52366018T>C	ENST00000296585.5	+	17	2306	c.2163T>C	c.(2161-2163)aaT>aaC	p.N721N		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	721					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AAGAAAACAATGAAAGGTGCC	0.383																																						uc003joy.2		NA																	0				lung(1)	1						c.(2161-2163)AAT>AAC		integrin alpha 2 precursor							61.0	63.0	63.0					5																	52366018		2203	4300	6503	SO:0001819	synonymous_variant	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52366018T>C		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2163T>C	5.37:g.52366018T>C						ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Silent_p.N645N|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	p.N721N	NM_002203	NP_002194	P17301	ITA2_HUMAN			17	2306	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	721			Extracellular (Potential).		Q14595	Silent	SNP	ENST00000296585.5	37	c.2163T>C	CCDS3957.1																																																																																				0.383	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		3	83	0	0	0	0	3	83				
HTR1A	3350	broad.mit.edu	37	5	63257091	63257091	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:63257091G>A	ENST00000323865.3	-	1	689	c.456C>T	c.(454-456)cgC>cgT	p.R152R	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	152				RAA -> PR (in Ref. 1; AAA36440/CAA31908). {ECO:0000305}.	adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.R152R(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCGCAGCGGCGCGCCGGGGCG	0.652																																						uc011cqt.1		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(2)|pancreas(2)	4						c.(454-456)CGC>CGT		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						75.0	84.0	81.0					5																	63257091		2203	4299	6502	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257091G>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.456C>T	5.37:g.63257091G>A							p.R152R	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	456	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	152	RAA -> PR (in Ref. 1; AAA36440/CAA31908).		Cytoplasmic (By similarity).		Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.456C>T	CCDS34168.1																																																																																				0.652	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		22	84	0	0	0	0	22	84				
THBS4	7060	broad.mit.edu	37	5	79375854	79375854	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:79375854T>C	ENST00000350881.2	+	20	2828	c.2638T>C	c.(2638-2640)Tcc>Ccc	p.S880P	THBS4_ENST00000504720.1_3'UTR|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.S789P	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	880	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGACAAGGTGTCCTACCGCTG	0.587																																						uc003kgh.2		NA																	0					0						c.(2638-2640)TCC>CCC		thrombospondin 4 precursor							90.0	86.0	88.0					5																	79375854		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79375854T>C		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2638T>C	5.37:g.79375854T>C	ENSP00000339730:p.Ser880Pro					uc003kgi.3_Intron	p.S880P	NM_003248	NP_003239	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	21	2961	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	880			TSP C-terminal.		B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.2638T>C	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.832035	0.91036	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.95885	-3.84;-3.84	5.12	5.12	0.69794	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96759	0.8942	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96820	0.9603	10	0.51188	T	0.08	-28.8901	15.3675	0.74535	0.0:0.0:0.0:1.0	.	880	P35443	TSP4_HUMAN	P	880;789	ENSP00000339730:S880P;ENSP00000422298:S789P	ENSP00000339730:S880P	S	+	1	0	THBS4	79411610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.852000	0.86927	2.275000	0.75901	0.528000	0.53228	TCC		0.587	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			4	26	0	0	0	0	4	26				
PCDHGC4	56098	broad.mit.edu	37	5	140865546	140865546	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:140865546C>T	ENST00000306593.1	+	1	806	c.806C>T	c.(805-807)cCg>cTg	p.P269L	PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	269	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)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCAGACCCGGACCTGGGT	0.542																																						uc003lky.1		NA																	0				ovary(4)	4						c.(805-807)CCG>CTG		protocadherin gamma subfamily C, 4 isoform 1							66.0	72.0	70.0					5																	140865546		2203	4300	6503	SO:0001583	missense	56098				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140865546C>T	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.806C>T	5.37:g.140865546C>T	ENSP00000306918:p.Pro269Leu					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_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.P269L	p.P269L	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	806	+			269			Cadherin 3.|Extracellular (Potential).		Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	c.806C>T	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	C	0.670	-0.802364	0.02841	.	.	ENSG00000242419	ENST00000306593	T	0.60672	0.17	4.87	3.99	0.46301	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.21022	0.0506	N	0.00985	-1.075	0.28536	N	0.912357	B;B	0.33739	0.422;0.091	B;B	0.28385	0.089;0.01	T	0.06391	-1.0829	9	0.21014	T	0.42	.	3.6373	0.08154	0.2628:0.5156:0.1373:0.0844	.	269;269	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	L	269	ENSP00000306918:P269L	ENSP00000306918:P269L	P	+	2	0	PCDHGC4	140845730	0.000000	0.05858	0.986000	0.45419	0.954000	0.61252	-0.027000	0.12371	1.247000	0.43917	0.462000	0.41574	CCG		0.542	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		9	80	0	0	0	0	9	80				
CAMK2A	815	broad.mit.edu	37	5	149636340	149636340	+	Silent	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:149636340C>T	ENST00000348628.6	-	5	992	c.327G>A	c.(325-327)gaG>gaA	p.E109E	CAMK2A_ENST00000398376.3_Silent_p.E109E	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	109	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCATCCGCCTCACTGTAAT	0.602																																						uc003lru.2		NA																	0				large_intestine(1)	1						c.(325-327)GAG>GAA		calcium/calmodulin-dependent protein kinase II							68.0	73.0	71.0					5																	149636340		2123	4245	6368	SO:0001819	synonymous_variant	815				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:149636340C>T	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.327G>A	5.37:g.149636340C>T						CAMK2A_uc003lrt.2_Silent_p.E109E|CAMK2A_uc010jhe.2_Silent_p.E89E|CAMK2A_uc010jhf.1_5'Flank	p.E109E	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	542	-		all_hematologic(541;0.224)	109			Protein kinase.		Q9UL21|Q9Y2H4|Q9Y352	Silent	SNP	ENST00000348628.6	37	c.327G>A	CCDS43386.1																																																																																				0.602	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981		16	34	0	0	0	0	16	34				
GABRA1	2554	broad.mit.edu	37	5	161277887	161277887	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:161277887G>T	ENST00000428797.2	+	3	426	c.71G>T	c.(70-72)aGa>aTa	p.R24I	GABRA1_ENST00000437025.2_Missense_Mutation_p.R24I|GABRA1_ENST00000444819.1_Missense_Mutation_p.R24I|GABRA1_ENST00000420560.1_Missense_Mutation_p.R24I|GABRA1_ENST00000023897.6_Missense_Mutation_p.R24I|GABRA1_ENST00000393943.4_Missense_Mutation_p.R24I	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	24					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTGACTGGAAGAAGGTGGGGA	0.413																																						uc010jiw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(70-72)AGA>ATA		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						83.0	79.0	80.0					5																	161277887		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|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.chr5:161277887G>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.71G>T	5.37:g.161277887G>T	ENSP00000393097:p.Arg24Ile					GABRA1_uc010jix.2_Missense_Mutation_p.R24I|GABRA1_uc010jiy.2_Missense_Mutation_p.R24I|GABRA1_uc003lyx.3_Missense_Mutation_p.R24I|GABRA1_uc010jiz.2_Missense_Mutation_p.R24I|GABRA1_uc010jja.2_Missense_Mutation_p.R24I|GABRA1_uc010jjb.2_Missense_Mutation_p.R24I	p.R24I	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	3	539	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	24					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.71G>T	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704132	0.30232	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000521339;ENST00000420560;ENST00000522651;ENST00000444819;ENST00000519621	T;T;T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-0.47;-1.18;-0.47;-1.18;-0.46	5.41	3.3	0.37823	.	0.215494	0.32357	N	0.006216	T	0.63046	0.2478	N	0.19112	0.55	0.49299	D	0.999774	B	0.17038	0.02	B	0.12156	0.007	T	0.60566	-0.7238	10	0.46703	T	0.11	.	11.536	0.50636	0.1653:0.0:0.8347:0.0	.	24	P14867	GBRA1_HUMAN	I	24;24;24;24;30;24;24;24;24	ENSP00000023897:R24I;ENSP00000393097:R24I;ENSP00000377517:R24I;ENSP00000415441:R24I;ENSP00000430895:R30I;ENSP00000408041:R24I;ENSP00000430507:R24I;ENSP00000414232:R24I;ENSP00000430435:R24I	ENSP00000023897:R24I	R	+	2	0	GABRA1	161210465	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.688000	0.46984	1.301000	0.44836	-0.143000	0.13931	AGA		0.413	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		14	72	1	0	1.37e-15	1.73e-15	14	72				
HIST1H3I	8354	broad.mit.edu	37	6	27839968	27839968	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:27839968G>A	ENST00000328488.2	-	1	131	c.126C>T	c.(124-126)taC>taT	p.Y42Y		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	42					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGCCGGGGCGGTAGCGGTGGG	0.682																																						uc003njy.2		NA																	0				ovary(1)	1						c.(124-126)TAC>TAT		histone cluster 1, H3i							41.0	47.0	45.0					6																	27839968		2202	4298	6500	SO:0001819	synonymous_variant	8354				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27839968G>A	X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"""Histones / Replication-dependent"""	4771	protein-coding gene	gene with protein product		602814	"""H3 histone family, member F"", ""histone 1, H3i"""	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.126C>T	6.37:g.27839968G>A							p.Y42Y	NM_003533	NP_003524	P68431	H31_HUMAN			1	132	-			42					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000328488.2	37	c.126C>T	CCDS4636.1																																																																																				0.682	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	NM_003533		35	78	0	0	0	0	35	78				
OR2H1	26716	broad.mit.edu	37	6	29430027	29430027	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:29430027A>G	ENST00000377136.1	+	4	946	c.481A>G	c.(481-483)Acc>Gcc	p.T161A	OR2H1_ENST00000377133.1_Missense_Mutation_p.T161A|OR2H1_ENST00000396792.2_Missense_Mutation_p.T161A|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377132.1_Missense_Mutation_p.T161A|OR2H1_ENST00000442615.1_Missense_Mutation_p.T161A			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						GACACCATCCACCCTCCACTT	0.537																																						uc003nmi.2		NA																	0					0						c.(481-483)ACC>GCC		olfactory receptor, family 2, subfamily H,							203.0	211.0	208.0					6																	29430027		1509	2709	4218	SO:0001583	missense	26716				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29430027A>G	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"""GPCR / Class A : Olfactory receptors"""	8252	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily H, member 8"""	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.481A>G	6.37:g.29430027A>G	ENSP00000366340:p.Thr161Ala					OR2H1_uc003nmj.1_Missense_Mutation_p.T161A|OR2H1_uc010jri.1_Missense_Mutation_p.T83A	p.T161A	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN			3	924	+			161			Extracellular (Potential).		B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	c.481A>G	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.387722	0.25031	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.00241	8.46;8.46;8.46;8.46;8.46	2.81	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41938	D	0.000798	T	0.00109	0.0003	L	0.31845	0.965	0.09310	N	0.999999	D	0.65815	0.995	D	0.66497	0.944	T	0.40997	-0.9533	10	0.52906	T	0.07	.	8.0167	0.30385	0.894:0.0:0.106:0.0	.	161	Q9GZK4	OR2H1_HUMAN	A	161	ENSP00000366340:T161A;ENSP00000366337:T161A;ENSP00000393254:T161A;ENSP00000366336:T161A;ENSP00000380010:T161A	ENSP00000366336:T161A	T	+	1	0	OR2H1	29538006	0.000000	0.05858	0.169000	0.22859	0.004000	0.04260	-0.115000	0.10741	0.492000	0.27815	-0.322000	0.08575	ACC		0.537	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3			26	208	0	0	0	0	26	208				
GABRR2	2570	broad.mit.edu	37	6	89978925	89978925	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:89978925T>C	ENST00000402938.3	-	4	450	c.317A>G	c.(316-318)cAt>cGt	p.H106R	GABRR2_ENST00000602808.1_5'Flank|GABRR2_ENST00000602399.1_Missense_Mutation_p.H131R	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	106					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|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)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CTTCCAGTAATGCCGCAGGTA	0.522																																						uc003pnb.2		NA																	0					0						c.(391-393)CAT>CGT		gamma-aminobutyric acid (GABA) receptor, rho 2							112.0	111.0	111.0					6																	89978925		2203	4300	6503	SO:0001583	missense	2570				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.chr6:89978925T>C		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.317A>G	6.37:g.89978925T>C	ENSP00000386029:p.His106Arg					GABRR2_uc011dzx.1_Missense_Mutation_p.H7R	p.H131R	NM_002043	NP_002034	P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	4	400	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	131			Extracellular (Probable).		A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.392A>G	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	T	25.7	4.669716	0.88348	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.7	5.7	0.88788	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.69869	0.3159	M	0.63428	1.95	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	T	0.70684	-0.4804	8	.	.	.	.	15.9745	0.80049	0.0:0.0:0.0:1.0	.	131	P28476	GBRR2_HUMAN	R	131	.	.	H	-	2	0	GABRR2	90035644	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.040000	0.89188	2.168000	0.68352	0.533000	0.62120	CAT		0.522	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			39	113	0	0	0	0	39	113				
FAM26D	221301	broad.mit.edu	37	6	116879126	116879126	+	Missense_Mutation	SNP	G	G	C	rs548781420		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:116879126G>C	ENST00000368596.3	+	2	741	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q	FAM26D_ENST00000405399.1_Missense_Mutation_p.E90Q|FAM26D_ENST00000416171.2_Missense_Mutation_p.E89Q|FAM26D_ENST00000368597.2_Missense_Mutation_p.E47Q			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	233					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		AGAACTCTTTGAACAAGCAGC	0.517																																						uc003pxa.2		NA																	0					0						c.(268-270)GAA>CAA		hypothetical protein LOC221301							113.0	104.0	107.0					6																	116879126		2203	4300	6503	SO:0001583	missense	221301					integral to membrane		g.chr6:116879126G>C	AK056801	CCDS5109.1, CCDS59032.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000164451	ENSG00000164451			21094	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 78"""	C6orf78			Standard	NM_153036		Approved	FLJ32239	uc010ked.4	Q5JW98	OTTHUMG00000015443	ENST00000368596.3:c.697G>C	6.37:g.116879126G>C	ENSP00000357585:p.Glu233Gln					FAM26D_uc003pwz.2_Missense_Mutation_p.E47Q|FAM26D_uc010ked.2_Missense_Mutation_p.E89Q	p.E90Q	NM_153036	NP_694581	Q5JW98	FA26D_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)	4	567	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	233					B0QZ25|B0QZ27|B4DTQ0|Q96MK0	Missense_Mutation	SNP	ENST00000368596.3	37	c.268G>C		.	.	.	.	.	.	.	.	.	.	G	0.024	-1.386481	0.01194	.	.	ENSG00000164451	ENST00000416171;ENST00000368597;ENST00000452373;ENST00000405399;ENST00000368596	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	6.01	-2.1	0.07210	.	0.621756	0.15770	N	0.245462	T	0.04272	0.0118	L	0.48642	1.525	0.09310	N	1	B;B	0.32753	0.041;0.383	B;B	0.29716	0.022;0.106	T	0.38564	-0.9655	10	0.18276	T	0.48	-12.3753	11.6259	0.51145	0.1236:0.5402:0.3363:0.0	.	89;233	B4DTQ0;Q5JW98	.;FA26D_HUMAN	Q	89;47;47;90;233	ENSP00000416976:E89Q;ENSP00000357586:E47Q;ENSP00000409556:E47Q;ENSP00000385836:E90Q;ENSP00000357585:E233Q	ENSP00000357585:E233Q	E	+	1	0	FAM26D	116985819	0.781000	0.28676	0.001000	0.08648	0.004000	0.04260	0.684000	0.25364	-0.379000	0.07906	-0.175000	0.13238	GAA		0.517	FAM26D-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000041958.1	NM_153036		22	86	0	0	0	0	22	86				
CENPW	387103	broad.mit.edu	37	6	126661543	126661543	+	Silent	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:126661543T>C	ENST00000368328.4	+	1	224	c.124T>C	c.(124-126)Ttg>Ctg	p.L42L	CENPW_ENST00000368325.1_Silent_p.L42L|CENPW_ENST00000368326.1_Silent_p.L42L			Q5EE01	CENPW_HUMAN	centromere protein W	42					CENP-A containing nucleosome assembly (GO:0034080)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|kinetochore (GO:0000776)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(2)|large_intestine(1)|lung(3)	6						TGGTGACTTATTGGTGAGATT	0.512																																						uc003qao.2		NA																	0					0						c.(124-126)TTG>CTG		hypothetical protein LOC387103							77.0	74.0	75.0					6																	126661543		2203	4300	6503	SO:0001819	synonymous_variant	387103					chromosome, centromeric region|nucleus	DNA binding	g.chr6:126661543T>C	BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760			21488	protein-coding gene	gene with protein product	"""cancer-upregulated gene 2"""	611264	"""chromosome 6 open reading frame 173"""	C6orf173		17610844, 19070575	Standard	NM_001286524		Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.124T>C	6.37:g.126661543T>C						CENPW_uc003qap.3_RNA	p.L42L	NM_001012507	NP_001012525	Q5EE01	CENPW_HUMAN			1	291	+			42					A6NIR0|A6NJC2	Silent	SNP	ENST00000368328.4	37	c.124T>C	CCDS34529.1																																																																																				0.512	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042104.1			16	78	0	0	0	0	16	78				
SF3B5	83443	broad.mit.edu	37	6	144416375	144416375	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:144416375C>G	ENST00000367569.2	-	1	379	c.260G>C	c.(259-261)tGa>tCa	p.*87S		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	0					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		GGCAGAGTCTCAGTTCTCCTC	0.567																																						uc003qkr.1		NA																	0					0						c.(259-261)TGA>TCA		SF3b10							108.0	110.0	109.0					6																	144416375		2203	4300	6503	SO:0001578	stop_lost	83443				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex		g.chr6:144416375C>G	BC000198	CCDS5204.1	6q24.1	2010-01-26			ENSG00000169976	ENSG00000169976			21083	protein-coding gene	gene with protein product						12234937	Standard	NM_031287		Approved	SF3b10, MGC3133, Ysf3	uc003qkr.1	Q9BWJ5	OTTHUMG00000015737	ENST00000367569.2:c.260G>C	6.37:g.144416375C>G							p.*87S	NM_031287	NP_112577	Q9BWJ5	SF3B5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)	1	380	-			87					B2R568|Q7RTV1	Nonstop_Mutation	SNP	ENST00000367569.2	37	c.260G>C	CCDS5204.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283823	0.59867	.	.	ENSG00000169976	ENST00000367569	.	.	.	5.95	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0937	0.59180	0.0:0.9254:0.0:0.0746	.	.	.	.	S	87	.	.	X	-	2	2	SF3B5	144458068	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	1.978000	0.40598	1.523000	0.49018	0.655000	0.94253	TGA		0.567	SF3B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042537.1	NM_031287		21	133	0	0	0	0	21	133				
ERMARD	55780	broad.mit.edu	37	6	170155405	170155405	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:170155405G>A	ENST00000366773.3	+	3	235	c.202G>A	c.(202-204)Gtg>Atg	p.V68M	ERMARD_ENST00000366772.2_Missense_Mutation_p.V68M|ERMARD_ENST00000392095.4_5'UTR|ERMARD_ENST00000588451.1_5'UTR|ERMARD_ENST00000418781.3_Missense_Mutation_p.V68M	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	68					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											CTGGGGAAGCGTGAGGCTGCT	0.443																																						uc003qxg.1		NA																	0				ovary(1)	1						c.(202-204)GTG>ATG		hypothetical protein LOC55780							161.0	161.0	161.0					6																	170155405		2203	4300	6503	SO:0001583	missense	55780					integral to membrane		g.chr6:170155405G>A	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.202G>A	6.37:g.170155405G>A	ENSP00000355735:p.Val68Met					C6orf70_uc011ehb.1_Translation_Start_Site|C6orf70_uc003qxh.1_Missense_Mutation_p.V68M|C6orf70_uc010kky.1_Translation_Start_Site	p.V68M	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	3	235	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	68					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.202G>A	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347700	0.41599	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781	T	0.60797	0.16	5.93	4.13	0.48395	.	0.233616	0.30219	N	0.010140	T	0.61148	0.2324	M	0.69823	2.125	0.80722	D	1	D;D	0.69078	0.975;0.997	B;P	0.61201	0.356;0.885	T	0.66388	-0.5936	10	0.72032	D	0.01	.	10.7472	0.46187	0.0719:0.1326:0.7955:0.0	.	68;68	Q5T6L9-2;Q5T6L9	.;CF070_HUMAN	M	68	ENSP00000355735:V68M	ENSP00000355734:V68M	V	+	1	0	C6orf70	169897330	0.986000	0.35501	0.088000	0.20740	0.106000	0.19336	2.503000	0.45407	0.823000	0.34589	0.557000	0.71058	GTG		0.443	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		16	132	0	0	0	0	16	132				
ETV1	2115	broad.mit.edu	37	7	13950933	13950933	+	Splice_Site	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:13950933C>G	ENST00000430479.1	-	10	1470		c.e10-1		ETV1_ENST00000420159.2_Splice_Site|ETV1_ENST00000476720.2_Splice_Site|ETV1_ENST00000405358.4_Splice_Site|ETV1_ENST00000242066.5_Splice_Site|ETV1_ENST00000403527.1_Splice_Site|ETV1_ENST00000399357.3_Splice_Site|ETV1_ENST00000343495.5_Splice_Site|ETV1_ENST00000403685.1_Splice_Site|ETV1_ENST00000405218.2_Splice_Site|ETV1_ENST00000405192.2_Intron	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1						axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTAGGCACTTCTGAAAGAGGA	0.463			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	uc011jxq.1		NA		Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3		Ewing sarcoma|prostate	TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	0				prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						c.e10-1		ets variant gene 1 isoform a							62.0	60.0	60.0					7																	13950933		1907	4125	6032	SO:0001630	splice_region_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13950933C>G		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.803-1G>C	7.37:g.13950933C>G						ETV1_uc011jxn.1_Splice_Site_p.E228_splice|ETV1_uc011jxo.1_Splice_Site_p.E165_splice|ETV1_uc011jxp.1_Splice_Site_p.E210_splice|ETV1_uc003ssw.3_Intron|ETV1_uc003ssx.2_Splice_Site|ETV1_uc011jxr.1_Splice_Site_p.E250_splice|ETV1_uc011jxs.1_Splice_Site_p.E250_splice|ETV1_uc010ktv.2_Splice_Site_p.E137_splice	p.E268_splice	NM_004956	NP_004947	P50549	ETV1_HUMAN			10	1542	-								A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Splice_Site	SNP	ENST00000430479.1	37	c.803_splice	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731189	0.89390	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3454	0.94361	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ETV1	13917458	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.776000	0.85560	2.736000	0.93811	0.591000	0.81541	.		0.463	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956	Intron	7	26	0	0	0	0	7	26				
RNF148	378925	broad.mit.edu	37	7	122342351	122342351	+	Missense_Mutation	SNP	C	C	T	rs200865337		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:122342351C>T	ENST00000434824.1	-	1	670	c.454G>A	c.(454-456)Gcg>Acg	p.A152T	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.A54T|CADPS2_ENST00000334010.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	152	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						ATCATCACCGCGACTATATTT	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		22003	0.0		0.001	False		,,,				2504	0.0					uc003vkk.1		NA																	0					0						c.(454-456)GCG>ACG		ring finger protein 148 precursor		C	,,,THR/ALA	0,4034		0,0,2017	272.0	268.0	269.0		,,,454	4.9	0.8	7		269	1,8325		0,1,4162	no	intron,intron,intron,missense	CADPS2,RNF148	NM_001009571.3,NM_001167940.1,NM_017954.10,NM_198085.1	,,,58	0,1,6179	TT,TC,CC		0.012,0.0,0.0081	,,,probably-damaging	,,,152/306	122342351	1,12359	2017	4163	6180	SO:0001583	missense	378925					integral to membrane	zinc ion binding	g.chr7:122342351C>T	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.454G>A	7.37:g.122342351C>T	ENSP00000388207:p.Ala152Thr					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Missense_Mutation_p.A54T	p.A152T	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN			1	671	-			152			PA.		A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	c.454G>A	CCDS47692.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.99	3.272997	0.59649	0.0	1.2E-4	ENSG00000235631	ENST00000434824;ENST00000447240	T	0.07567	3.18	4.95	4.95	0.65309	Protease-associated domain, PA (1);	.	.	.	.	T	0.24928	0.0605	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.954;0.977	T	0.00787	-1.1566	9	0.87932	D	0	.	6.8466	0.23992	0.1759:0.734:0.0:0.0901	.	54;152	C9JVJ0;Q8N7C7	.;RN148_HUMAN	T	152;54	ENSP00000388207:A152T	ENSP00000388207:A152T	A	-	1	0	RNF148	122129587	0.993000	0.37304	0.835000	0.33067	0.852000	0.48524	2.907000	0.48743	2.446000	0.82766	0.555000	0.69702	GCG		0.463	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		92	223	0	0	0	0	92	223				
EXOC4	60412	broad.mit.edu	37	7	133682292	133682292	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:133682292G>C	ENST00000253861.4	+	15	2283	c.2254G>C	c.(2254-2256)Gtg>Ctg	p.V752L	EXOC4_ENST00000539845.1_Missense_Mutation_p.V651L|EXOC4_ENST00000545148.1_Missense_Mutation_p.V362L|EXOC4_ENST00000541309.1_Missense_Mutation_p.V40L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	752					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)				TCTCCCCCCAGTGTCAGAGCA	0.463																																						uc003vrk.2		NA																	0				ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(2254-2256)GTG>CTG		SEC8 protein isoform a							145.0	116.0	126.0					7																	133682292		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133682292G>C	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.2254G>C	7.37:g.133682292G>C	ENSP00000253861:p.Val752Leu					EXOC4_uc011kpo.1_Missense_Mutation_p.V651L|EXOC4_uc003vrl.2_Missense_Mutation_p.V362L|EXOC4_uc011kpp.1_Missense_Mutation_p.V284L|EXOC4_uc011kpq.1_Missense_Mutation_p.V40L	p.V752L	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			15	2289	+		Esophageal squamous(399;0.129)	752					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.2254G>C	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635055	0.29068	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.43	3.62	0.41486	.	0.368457	0.30602	N	0.009269	T	0.17619	0.0423	N	0.04636	-0.2	0.27713	N	0.945383	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.25293	-1.0136	9	0.02654	T	1	.	11.6324	0.51183	0.1464:0.0:0.8536:0.0	.	284;362;752	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	L	752;371;651;362;40	.	ENSP00000253861:V752L	V	+	1	0	EXOC4	133332832	1.000000	0.71417	0.913000	0.36048	0.485000	0.33311	4.060000	0.57477	0.653000	0.30826	0.655000	0.94253	GTG		0.463	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		14	36	0	0	0	0	14	36				
OR2A2	442361	broad.mit.edu	37	7	143807496	143807496	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:143807496C>G	ENST00000408979.2	+	1	890	c.821C>G	c.(820-822)tCc>tGc	p.S274C		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S274Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AAAATGCTGTCCCTGTTTCAC	0.512																																						uc011ktz.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(820-822)TCC>TGC		olfactory receptor, family 2, subfamily A,							175.0	168.0	170.0					7																	143807496		1999	4187	6186	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807496C>G		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.821C>G	7.37:g.143807496C>G	ENSP00000386209:p.Ser274Cys						p.S274C	NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN			1	821	+	Melanoma(164;0.0783)		274			Helical; Name=7; (Potential).		B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.821C>G	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	C	5.786	0.329405	0.10956	.	.	ENSG00000221989	ENST00000408979	T	0.00277	8.34	3.47	0.57	0.17347	GPCR, rhodopsin-like superfamily (1);	0.790972	0.10332	U	0.687371	T	0.00724	0.0024	M	0.91354	3.2	0.09310	N	1	D	0.71674	0.998	D	0.72075	0.976	T	0.41484	-0.9506	10	0.72032	D	0.01	-15.476	7.2117	0.25937	0.0:0.6594:0.0:0.3406	.	274	Q6IF42	OR2A2_HUMAN	C	274	ENSP00000386209:S274C	ENSP00000386209:S274C	S	+	2	0	OR2A2	143438429	0.004000	0.15560	0.001000	0.08648	0.009000	0.06853	0.851000	0.27751	0.278000	0.22164	-0.409000	0.06214	TCC		0.512	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			64	153	0	0	0	0	64	153				
XRCC2	7516	broad.mit.edu	37	7	152346214	152346214	+	Missense_Mutation	SNP	T	T	A	rs540634835	byFrequency	TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:152346214T>A	ENST00000359321.1	-	3	441	c.356A>T	c.(355-357)tAc>tTc	p.Y119F	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	119					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		ACTACTGCAGTACACCAAAAA	0.398								Homologous recombination																														uc003wld.2		NA																	0				breast(1)|liver(1)	2						c.(355-357)TAC>TTC	Homologous_recombination	X-ray repair cross complementing protein 2							82.0	83.0	82.0					7																	152346214		2203	4300	6503	SO:0001583	missense	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152346214T>A	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"""RAD51-like"""	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.356A>T	7.37:g.152346214T>A	ENSP00000352271:p.Tyr119Phe						p.Y119F	NM_005431	NP_005422	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	3	442	-		all_hematologic(28;0.0592)|Prostate(32;0.081)	119					B2R925	Missense_Mutation	SNP	ENST00000359321.1	37	c.356A>T	CCDS5933.1	.	.	.	.	.	.	.	.	.	.	T	2.521	-0.310826	0.05458	.	.	ENSG00000196584	ENST00000359321	T	0.38887	1.11	5.39	1.45	0.22620	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.387119	0.29133	N	0.013048	T	0.35248	0.0925	L	0.43152	1.355	0.21355	N	0.999714	P	0.34639	0.461	B	0.40602	0.334	T	0.28170	-1.0052	10	0.87932	D	0	-2.6498	5.9484	0.19232	0.0:0.1432:0.2586:0.5982	.	119	O43543	XRCC2_HUMAN	F	119	ENSP00000352271:Y119F	ENSP00000352271:Y119F	Y	-	2	0	XRCC2	151977147	0.899000	0.30636	0.017000	0.16124	0.081000	0.17604	0.974000	0.29436	0.003000	0.14656	0.482000	0.46254	TAC		0.398	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431		5	53	0	0	0	0	5	53				
NCAPG2	54892	broad.mit.edu	37	7	158476042	158476042	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:158476042G>A	ENST00000409423.1	-	10	1046	c.874C>T	c.(874-876)Cac>Tac	p.H292Y	NCAPG2_ENST00000275830.10_Missense_Mutation_p.H84Y|NCAPG2_ENST00000409339.3_Missense_Mutation_p.H292Y|NCAPG2_ENST00000449727.2_Missense_Mutation_p.H292Y|NCAPG2_ENST00000356309.3_Missense_Mutation_p.H292Y	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	292					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TGTATCCCGTGGAACATGAAG	0.438																																						uc003wnv.1		NA																	0				ovary(1)|breast(1)|kidney(1)	3						c.(874-876)CAC>TAC		leucine zipper protein 5							165.0	162.0	163.0					7																	158476042		1919	4133	6052	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158476042G>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.874C>T	7.37:g.158476042G>A	ENSP00000386569:p.His292Tyr					NCAPG2_uc010lqu.1_Missense_Mutation_p.H84Y|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.H292Y|NCAPG2_uc011kwe.1_Missense_Mutation_p.H292Y	p.H292Y	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	9	1019	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	292					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.874C>T	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.790002	0.31685	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.5	4.61	0.57282	Armadillo-type fold (1);	0.094471	0.64402	D	0.000001	T	0.27697	0.0681	L	0.28740	0.885	0.52501	D	0.999956	B;B;B	0.26400	0.122;0.026;0.148	B;B;B	0.26969	0.045;0.027;0.075	T	0.05338	-1.0891	10	0.02654	T	1	-22.1297	14.0748	0.64882	0.0723:0.0:0.9276:0.0	.	292;84;292	Q86XI2-2;E7EUH9;Q86XI2	.;.;CNDG2_HUMAN	Y	292;292;84;292;292	ENSP00000348657:H292Y;ENSP00000386569:H292Y;ENSP00000275830:H84Y;ENSP00000387007:H292Y;ENSP00000388326:H292Y	ENSP00000275830:H84Y	H	-	1	0	NCAPG2	158168803	1.000000	0.71417	0.997000	0.53966	0.687000	0.40016	4.388000	0.59633	2.735000	0.93741	0.655000	0.94253	CAC		0.438	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		18	117	0	0	0	0	18	117				
TUSC3	7991	broad.mit.edu	37	8	15517104	15517104	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:15517104G>A	ENST00000503731.1	+	4	663	c.515G>A	c.(514-516)gGa>gAa	p.G172E	TUSC3_ENST00000509380.1_Missense_Mutation_p.G172E|TUSC3_ENST00000382020.4_Missense_Mutation_p.G172E|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000506802.1_Missense_Mutation_p.G172E	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	172	Thioredoxin.				cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CAAAGAATTGGATTTGCAGCT	0.393																																						uc003wwt.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(514-516)GGA>GAA		tumor suppressor candidate 3 isoform a							121.0	117.0	118.0					8																	15517104		2203	4300	6503	SO:0001583	missense	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15517104G>A	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.515G>A	8.37:g.15517104G>A	ENSP00000424544:p.Gly172Glu					TUSC3_uc003wwr.2_Missense_Mutation_p.G172E|TUSC3_uc003wws.2_Missense_Mutation_p.G172E|TUSC3_uc003wwu.2_Missense_Mutation_p.G172E|TUSC3_uc003wwv.2_Missense_Mutation_p.G172E|TUSC3_uc003www.2_Missense_Mutation_p.G172E|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.G172E	p.G172E	NM_006765	NP_006756	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	4	725	+			172					A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	c.515G>A	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033605	0.93575	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.52	5.52	0.82312	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.66848	0.2831	M	0.87456	2.885	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;1.0;0.998;0.999;1.0;1.0	T	0.69105	-0.5233	10	0.48119	T	0.1	-15.0772	18.809	0.92050	0.0:0.0:1.0:0.0	.	172;172;172;172;172;172	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	E	172	ENSP00000371450:G172E;ENSP00000425777:G172E;ENSP00000423426:G172E;ENSP00000424544:G172E	ENSP00000221167:G172E	G	+	2	0	TUSC3	15561475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.764000	0.94973	0.650000	0.86243	GGA		0.393	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		12	77	0	0	0	0	12	77				
ANK1	286	broad.mit.edu	37	8	41581097	41581097	+	Silent	SNP	G	G	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:41581097G>T	ENST00000347528.4	-	8	849	c.766C>A	c.(766-768)Cgg>Agg	p.R256R	ANK1_ENST00000265709.8_Silent_p.R289R|ANK1_ENST00000352337.4_Silent_p.R256R|ANK1_ENST00000289734.7_Silent_p.R256R|ANK1_ENST00000396945.1_Silent_p.R256R|ANK1_ENST00000379758.2_Silent_p.R256R|ANK1_ENST00000396942.1_Silent_p.R256R	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	256	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGCAGCAGCCGCACCATGATC	0.647																																						uc003xok.2		NA																	0				ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(766-768)CGG>AGG		ankyrin 1 isoform 1							112.0	83.0	92.0					8																	41581097		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41581097G>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.766C>A	8.37:g.41581097G>T						NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.R256R|ANK1_uc003xoj.2_Silent_p.R256R|ANK1_uc003xol.2_Silent_p.R256R|ANK1_uc003xom.2_Silent_p.R289R	p.R256R	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		8	850	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	256			ANK 7.|89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.766C>A	CCDS6119.1																																																																																				0.647	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		24	65	1	0	5.5e-05	6.6e-05	24	65				
MATN2	4147	broad.mit.edu	37	8	99040003	99040003	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:99040003G>A	ENST00000520016.1	+	13	2426	c.2302G>A	c.(2302-2304)Gac>Aac	p.D768N	MATN2_ENST00000524308.1_Missense_Mutation_p.D727N|MATN2_ENST00000254898.5_Missense_Mutation_p.D768N|MATN2_ENST00000522025.2_Missense_Mutation_p.D484N|MATN2_ENST00000521689.1_Missense_Mutation_p.D768N|RPL30_ENST00000518164.1_Intron			O00339	MATN2_HUMAN	matrilin 2	768	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGTGTTCACCGACGGACGGGC	0.562																																						uc003yic.2		NA																	0				ovary(2)	2						c.(2302-2304)GAC>AAC		matrilin 2 isoform a precursor							45.0	45.0	45.0					8																	99040003		1930	4127	6057	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99040003G>A	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.2302G>A	8.37:g.99040003G>A	ENSP00000430487:p.Asp768Asn					MATN2_uc010mbh.1_Missense_Mutation_p.D727N|MATN2_uc003yid.2_Missense_Mutation_p.D768N|MATN2_uc003yie.1_Missense_Mutation_p.D768N|MATN2_uc010mbi.1_Missense_Mutation_p.D601N|MATN2_uc010mbj.1_Intron|RPL30_uc010mbk.1_Intron	p.D768N	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		14	2533	+	Breast(36;1.43e-06)		768			VWFA 2.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.2302G>A	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.184360|5.184360	0.94885|0.94885	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016|ENST00000518154	D;D;D;D;D|.	0.92149|.	-2.98;-2.98;-2.98;-2.98;-2.98|.	5.24|5.24	5.24|5.24	0.73138|0.73138	von Willebrand factor, type A (3);|.	0.000000|.	0.64402|.	D|.	0.000003|.	D|D	0.88220|0.88220	0.6378|0.6378	H|H	0.96080|0.96080	3.765|3.765	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;1.0|.	D|D	0.91773|0.91773	0.5429|0.5429	10|5	0.54805|.	T|.	0.06|.	-30.4964|-30.4964	19.1881|19.1881	0.93653|0.93653	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	768;768;768|.	E9PF03;O00339-2;O00339|.	.;.;MATN2_HUMAN|.	N|Q	768;768;727;727;484;768|550	ENSP00000429977:D768N;ENSP00000254898:D768N;ENSP00000430221:D727N;ENSP00000429010:D484N;ENSP00000430487:D768N|.	ENSP00000254898:D768N|.	D|R	+|+	1|2	0|0	MATN2|MATN2	99109179|99109179	1.000000|1.000000	0.71417|0.71417	0.472000|0.472000	0.27241|0.27241	0.882000|0.882000	0.50991|0.50991	9.813000|9.813000	0.99286|0.99286	2.602000|2.602000	0.87976|0.87976	0.555000|0.555000	0.69702|0.69702	GAC|CGA		0.562	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			9	60	0	0	0	0	9	60				
CSMD3	114788	broad.mit.edu	37	8	113259313	113259313	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:113259313T>A	ENST00000297405.5	-	64	10402	c.10158A>T	c.(10156-10158)caA>caT	p.Q3386H	CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3316H|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3346H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3217H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3386	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						TTGTAGACCCTTGGAGAAGGT	0.408										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.(10156-10158)CAA>CAT		CUB and Sushi multiple domains 3 isoform 1							136.0	120.0	125.0					8																	113259313		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113259313T>A	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.10158A>T	8.37:g.113259313T>A	ENSP00000297405:p.Gln3386His	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.Q2588H|CSMD3_uc003ynt.2_Missense_Mutation_p.Q3346H|CSMD3_uc011lhx.1_Missense_Mutation_p.Q3217H	p.Q3386H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			64	10317	-			3386			Extracellular (Potential).|Sushi 27.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10158A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	12.75	2.030918	0.35797	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.79	0.955	0.19602	Complement control module (2);Sushi/SCR/CCP (3);	0.272209	0.31092	N	0.008268	T	0.47395	0.1443	L	0.44542	1.39	0.31399	N	0.676952	B;B;B	0.14012	0.0;0.001;0.009	B;B;B	0.23419	0.005;0.006;0.046	T	0.40384	-0.9566	10	0.42905	T	0.14	.	3.8807	0.09077	0.2283:0.2692:0.0:0.5025	.	3217;3386;3346	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	3346;3386;2656;3217;3316	ENSP00000345799:Q3346H;ENSP00000297405:Q3386H;ENSP00000341558:Q2656H;ENSP00000412263:Q3217H;ENSP00000343124:Q3316H	ENSP00000297405:Q3386H	Q	-	3	2	CSMD3	113328489	0.999000	0.42202	0.997000	0.53966	0.709000	0.40893	0.574000	0.23714	0.073000	0.16731	0.377000	0.23210	CAA		0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		6	38	0	0	0	0	6	38				
CSMD3	114788	broad.mit.edu	37	8	113585877	113585877	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:113585877C>G	ENST00000297405.5	-	24	4139	c.3895G>C	c.(3895-3897)Gga>Cga	p.G1299R	CSMD3_ENST00000352409.3_Missense_Mutation_p.G1299R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1259R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1195R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1299	CUB 7. {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						TTATCTTTTCCATCATAAATC	0.308										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.(3895-3897)GGA>CGA		CUB and Sushi multiple domains 3 isoform 1							71.0	71.0	71.0					8																	113585877		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113585877C>G	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.3895G>C	8.37:g.113585877C>G	ENSP00000297405:p.Gly1299Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G571R|CSMD3_uc003ynt.2_Missense_Mutation_p.G1259R|CSMD3_uc011lhx.1_Missense_Mutation_p.G1195R	p.G1299R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			24	4054	-			1299			Extracellular (Potential).|CUB 7.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3895G>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535205	0.85812	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	4.85	4.85	0.62838	CUB (5);	0.000000	0.64402	D	0.000001	T	0.61185	0.2327	M	0.93978	3.48	0.51233	D	0.999916	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.995	T	0.66791	-0.5834	10	0.25106	T	0.35	.	18.1525	0.89678	0.0:1.0:0.0:0.0	.	1195;1299;1259	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	1259;1299;639;1195;1299	ENSP00000345799:G1259R;ENSP00000297405:G1299R;ENSP00000341558:G639R;ENSP00000412263:G1195R;ENSP00000343124:G1299R	ENSP00000297405:G1299R	G	-	1	0	CSMD3	113655053	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.458000	0.80787	2.496000	0.84212	0.591000	0.81541	GGA		0.308	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		6	44	0	0	0	0	6	44				
EXT1	2131	broad.mit.edu	37	8	119122780	119122780	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:119122780T>C	ENST00000378204.2	-	1	1312	c.506A>G	c.(505-507)cAg>cGg	p.Q169R		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	169					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTGCACATACTGAGGTGACAA	0.488			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													uc003yok.1		NA	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	Mis|N|F|S	multiple exostoses type 1 gene			M		exostoses|osteosarcoma			0				ovary(2)|lung(2)	4						c.(505-507)CAG>CGG		exostosin 1							121.0	138.0	132.0					8																	119122780		2203	4300	6503	SO:0001583	missense	2131	Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:119122780T>C	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.506A>G	8.37:g.119122780T>C	ENSP00000367446:p.Gln169Arg						p.Q169R	NM_000127	NP_000118	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		1	1279	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		169			Lumenal (Potential).		B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	c.506A>G	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.516370	0.44763	.	.	ENSG00000182197	ENST00000378204	D	0.97529	-4.42	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	D	0.93690	0.7984	L	0.35341	1.055	0.58432	D	0.999999	B	0.09022	0.002	B	0.10450	0.005	D	0.91097	0.4911	10	0.13470	T	0.59	-4.9532	15.7372	0.77853	0.0:0.0:0.0:1.0	.	169	Q16394	EXT1_HUMAN	R	169	ENSP00000367446:Q169R	ENSP00000367446:Q169R	Q	-	2	0	EXT1	119191961	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.928000	0.87587	2.114000	0.64651	0.379000	0.24179	CAG		0.488	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		27	177	0	0	0	0	27	177				
ENPP2	5168	broad.mit.edu	37	8	120629779	120629779	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:120629779G>C	ENST00000075322.6	-	6	562	c.504C>G	c.(502-504)atC>atG	p.I168M	ENPP2_ENST00000427067.2_Missense_Mutation_p.I164M|ENPP2_ENST00000259486.6_Missense_Mutation_p.I168M|ENPP2_ENST00000522826.1_Missense_Mutation_p.I168M	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	168					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCACGGAGAAGATGATTAATG	0.373																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(502-504)ATC>ATG		autotaxin isoform 2 preproprotein							66.0	63.0	64.0					8																	120629779		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120629779G>C	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.504C>G	8.37:g.120629779G>C	ENSP00000075322:p.Ile168Met					ENPP2_uc003yos.1_Missense_Mutation_p.I168M|ENPP2_uc010mdd.1_Missense_Mutation_p.I168M	p.I168M	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		6	590	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		168					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.504C>G	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779470	0.31502	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	5.86	3.1	0.35709	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.131761	0.64402	D	0.000002	T	0.57330	0.2046	N	0.11892	0.195	0.54753	D	0.999987	B;B;B	0.30361	0.277;0.232;0.114	B;B;B	0.34590	0.101;0.186;0.069	T	0.51965	-0.8638	10	0.42905	T	0.14	.	10.12	0.42614	0.0633:0.0:0.69:0.2467	.	168;168;168	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	M	168;164;168;168;150	ENSP00000259486:I168M;ENSP00000403315:I164M;ENSP00000428291:I168M;ENSP00000075322:I168M;ENSP00000428304:I150M	ENSP00000075322:I168M	I	-	3	3	ENPP2	120698960	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	1.283000	0.33237	0.398000	0.25338	-0.127000	0.14921	ATC		0.373	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			8	18	0	0	0	0	8	18				
FAM135B	51059	broad.mit.edu	37	8	139164784	139164784	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:139164784C>T	ENST00000395297.1	-	13	2104	c.1934G>A	c.(1933-1935)aGt>aAt	p.S645N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	645										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGGTAGAACTTAGTGGATC	0.488										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(1933-1935)AGT>AAT		hypothetical protein LOC51059							89.0	89.0	89.0					8																	139164784		1874	4113	5987	SO:0001583	missense	51059							g.chr8:139164784C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1934G>A	8.37:g.139164784C>T	ENSP00000378710:p.Ser645Asn	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.S546N|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.S207N|FAM135B_uc003yvb.2_Missense_Mutation_p.S207N	p.S645N	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2105	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		645					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1934G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	4.261	0.047472	0.08243	.	.	ENSG00000147724	ENST00000395297	T	0.15834	2.39	5.44	-0.782	0.10961	.	1.079380	0.06866	N	0.799970	T	0.07143	0.0181	N	0.02315	-0.6	0.09310	N	1	B;B;B	0.17268	0.021;0.011;0.002	B;B;B	0.16722	0.016;0.009;0.003	T	0.44065	-0.9352	10	0.11485	T	0.65	-1.7103	12.1315	0.53946	0.0:0.5638:0.0:0.4362	.	645;645;645	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	N	645	ENSP00000378710:S645N	ENSP00000276737:S645N	S	-	2	0	FAM135B	139233966	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.287000	0.08388	-0.823000	0.04301	-1.934000	0.00508	AGT		0.488	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		14	66	0	0	0	0	14	66				
KCNK9	51305	broad.mit.edu	37	8	140630759	140630759	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:140630759G>A	ENST00000520439.1	-	2	930	c.867C>T	c.(865-867)gaC>gaT	p.D289D	KCNK9_ENST00000303015.1_Silent_p.D289D|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	289					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	GGTCCGGGACGTCCGCCTTGT	0.657																																						uc003yvf.1		NA																	0				ovary(2)|lung(1)	3						c.(865-867)GAC>GAT		potassium channel, subfamily K, member 9							50.0	55.0	53.0					8																	140630759		2203	4300	6503	SO:0001819	synonymous_variant	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140630759G>A	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.867C>T	8.37:g.140630759G>A						KCNK9_uc003yvg.1_Silent_p.D289D|KCNK9_uc003yve.1_RNA	p.D289D	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	931	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	289			Cytoplasmic (Potential).		Q2M290|Q540F2	Silent	SNP	ENST00000520439.1	37	c.867C>T	CCDS6377.1																																																																																				0.657	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		12	75	0	0	0	0	12	75				
CDKN2A	1029	broad.mit.edu	37	9	21974703	21974703	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr9:21974703T>G	ENST00000304494.5	-	1	394	c.124A>C	c.(124-126)Aat>Cat	p.N42H	CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.N42H|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.N42H|CDKN2A_ENST00000446177.1_Missense_Mutation_p.N42H|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	42					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.N42Y(1)|p.0(1)|p.V28_V51del(1)|p.N42D(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGTAACTATTCGGTGCGTTG	0.692		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1342	Whole gene deletion(1316)|Unknown(23)|Substitution - Missense(2)|Deletion - In frame(1)	p.0?(1112)|p.?(23)|p.N42Y(1)|p.V28_V51del(1)|p.N42T(1)|p.N42D(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(163)|lung(147)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|pancreas(30)|breast(30)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(124-126)AAT>CAT		cyclin-dependent kinase inhibitor 2A isoform 1							47.0	56.0	53.0					9																	21974703		2202	4300	6502	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21974703T>G	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.124A>C	9.37:g.21974703T>G	ENSP00000307101:p.Asn42His	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Missense_Mutation_p.N42H|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	p.N42H	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	336	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	42					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.124A>C	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.166583	0.78339	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.69435	-0.4;-0.4	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.84061	0.5389	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.86561	0.1841	9	0.87932	D	0	.	8.5504	0.33449	0.0:0.0882:0.0:0.9118	.	42;42	P42771;G3XAG3	CD2A1_HUMAN;.	H	42	ENSP00000307101:N42H;ENSP00000394932:N42H	ENSP00000307101:N42H	N	-	1	0	CDKN2A	21964703	1.000000	0.71417	0.035000	0.18076	0.066000	0.16364	4.048000	0.57390	2.165000	0.68154	0.533000	0.62120	AAT		0.692	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		76	55	0	0	0	0	76	55				
TXNDC8	255220	broad.mit.edu	37	9	113096542	113096542	+	Missense_Mutation	SNP	G	G	C	rs374389111		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr9:113096542G>C	ENST00000374511.3	-	2	131	c.83C>G	c.(82-84)tCt>tGt	p.S28C	TXNDC8_ENST00000374510.4_Missense_Mutation_p.S28C|TXNDC8_ENST00000374507.4_Missense_Mutation_p.S28C|TXNDC8_ENST00000423740.2_Missense_Mutation_p.S28C			Q6A555	TXND8_HUMAN	thioredoxin domain containing 8 (spermatozoa)	28	Thioredoxin.				acrosome assembly (GO:0001675)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sperm flagellum (GO:0036126)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCGTTTCGAAGAAAATTGAAC	0.363																																						uc004bes.2		NA																	0					0						c.(82-84)TCT>TGT		thioredoxin domain containing 8							60.0	57.0	58.0					9																	113096542		2203	4300	6503	SO:0001583	missense	255220				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	Golgi apparatus	electron carrier activity|protein disulfide oxidoreductase activity	g.chr9:113096542G>C	BC035743	CCDS35104.1, CCDS69639.1, CCDS75872.1	9q31.3	2007-08-16	2007-08-16	2007-08-16	ENSG00000204193	ENSG00000204193			31454	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 3"""						Standard	XM_005251879		Approved	bA427L11.2, TRX6, SPTRX-3	uc004bes.3	Q6A555	OTTHUMG00000020481	ENST00000374511.3:c.83C>G	9.37:g.113096542G>C	ENSP00000363635:p.Ser28Cys					TXNDC8_uc011lwl.1_Missense_Mutation_p.S28C	p.S28C	NM_001003936	NP_001003936	Q6A555	TXND8_HUMAN			2	132	-			28			Thioredoxin.		A1L4I2|A6NDK7|Q5T934	Missense_Mutation	SNP	ENST00000374511.3	37	c.83C>G		.	.	.	.	.	.	.	.	.	.	G	14.40	2.523698	0.44866	.	.	ENSG00000204193	ENST00000374511;ENST00000374510;ENST00000423740;ENST00000374507	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.14	5.14	0.70334	.	0.140604	0.32218	N	0.006420	T	0.54481	0.1861	M	0.85373	2.75	0.38436	D	0.946568	D;P	0.89917	1.0;0.867	D;B	0.79108	0.992;0.236	T	0.63238	-0.6682	10	0.72032	D	0.01	-8.7487	13.9828	0.64315	0.0:0.0:1.0:0.0	.	28;28	B7ZME0;Q6A555-2	.;.	C	28	ENSP00000363635:S28C;ENSP00000363634:S28C;ENSP00000408768:S28C;ENSP00000363631:S28C	ENSP00000363631:S28C	S	-	2	0	TXNDC8	112136363	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	4.655000	0.61476	2.658000	0.90341	0.650000	0.86243	TCT		0.363	TXNDC8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001003936		7	30	0	0	0	0	7	30				
PPP2R3B	28227	broad.mit.edu	37	X	295163	295163	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chrX:295163G>A	ENST00000390665.3	-	13	1685	c.1667C>T	c.(1666-1668)cCg>cTg	p.P556L		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	556					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCGCCCAGCGGTGAGGGCGC	0.726													G|||	18	0.00359425	0.0098	0.0029	5008	,	,		11795	0.001		0.001	False		,,,				2504	0.001					uc004cpg.2		NA																	0					0						c.(1666-1668)CCG>CTG		protein phosphatase 2, regulatory subunit B'',		G	LEU/PRO	33,4333		0,33,2150	16.0	22.0	20.0		1667	1.2	0.0	X	dbSNP_134	20	10,8534		0,10,4262	no	missense	PPP2R3B	NM_013239.4	98	0,43,6412	AA,AG,GG		0.117,0.7558,0.3331	benign	556/576	295163	43,12867	2183	4272	6455	SO:0001583	missense	28227				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chrX:295163G>A	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1667C>T	X.37:g.295163G>A	ENSP00000375080:p.Pro556Leu					PPP2R3B_uc004cpf.2_Missense_Mutation_p.P157L	p.P556L	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN			13	1868	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	556					Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	ENST00000390665.3	37	c.1667C>T	CCDS14104.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	2.189	-0.385694	0.04966	0.007558	0.00117	ENSG00000167393	ENST00000390665	T	0.22134	1.97	1.22	1.22	0.21188	.	1.178600	0.06745	U	0.778929	T	0.06096	0.0158	N	0.14661	0.345	0.09310	N	1	B	0.28880	0.226	B	0.17098	0.017	T	0.24835	-1.0149	10	0.06365	T	0.9	.	4.4905	0.11812	0.0:0.0:0.6219:0.3781	.	556	Q9Y5P8	P2R3B_HUMAN	L	556	ENSP00000375080:P556L	ENSP00000375080:P556L	P	-	2	0	PPP2R3B	215163	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.428000	0.06991	0.611000	0.30052	0.460000	0.39030	CCG		0.726	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		6	42	0	0	0	0	6	42				
DIAPH2	1730	broad.mit.edu	37	X	96136646	96136646	+	Silent	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chrX:96136646G>C	ENST00000324765.8	+	5	863	c.516G>C	c.(514-516)tcG>tcC	p.S172S	DIAPH2_ENST00000373049.4_Silent_p.S172S|DIAPH2_ENST00000373054.4_Silent_p.S168S|DIAPH2_ENST00000373061.3_Silent_p.S172S|DIAPH2_ENST00000355827.4_Silent_p.S172S|RPA4_ENST00000373040.3_5'Flank			O60879	DIAP2_HUMAN	diaphanous-related formin 2	172	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AATTACGATCGGGTATATCAG	0.383																																						uc004efu.3		NA																	0				ovary(3)|lung(1)	4						c.(514-516)TCG>TCC		diaphanous 2 isoform 156							82.0	74.0	77.0					X																	96136646		2203	4300	6503	SO:0001819	synonymous_variant	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96136646G>C	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.516G>C	X.37:g.96136646G>C						DIAPH2_uc004eft.3_Silent_p.S172S|DIAPH2_uc004efs.2_Silent_p.S179S|RPA4_uc004efv.3_5'Flank	p.S172S	NM_006729	NP_006720	O60879	DIAP2_HUMAN			5	912	+			172			GBD/FH3.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Silent	SNP	ENST00000324765.8	37	c.516G>C	CCDS14467.1																																																																																				0.383	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		15	14	0	0	0	0	15	14				
AIFM1	9131	broad.mit.edu	37	X	129281541	129281541	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chrX:129281541C>G	ENST00000287295.3	-	5	762	c.532G>C	c.(532-534)Gaa>Caa	p.E178Q	AIFM1_ENST00000535724.1_Missense_Mutation_p.E91Q|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Missense_Mutation_p.E174Q	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	178	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	AACCACAGTTCTTTTGAAAGA	0.413																																						uc004evg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(532-534)GAA>CAA		programmed cell death 8 isoform 1							134.0	115.0	121.0					X																	129281541		2203	4300	6503	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129281541C>G	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.532G>C	X.37:g.129281541C>G	ENSP00000287295:p.Glu178Gln					AIFM1_uc011mus.1_Missense_Mutation_p.E178Q|AIFM1_uc004evh.2_Missense_Mutation_p.E174Q|AIFM1_uc004evi.2_Intron|AIFM1_uc004evk.2_RNA	p.E178Q	NM_004208	NP_004199	O95831	AIFM1_HUMAN			5	710	-			178			FAD-dependent oxidoreductase (By similarity).		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.532G>C	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779587	0.90195	.	.	ENSG00000156709	ENST00000319908;ENST00000535724;ENST00000287295	T;T;T	0.47177	0.85;0.85;0.85	5.02	5.02	0.67125	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.044146	0.85682	D	0.000000	T	0.69052	0.3068	M	0.75884	2.315	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.72338	0.977;0.943;0.966	T	0.72906	-0.4150	10	0.62326	D	0.03	-15.6801	17.5009	0.87731	0.0:1.0:0.0:0.0	.	178;174;178	Q1L6K6;O95831-3;O95831	.;.;AIFM1_HUMAN	Q	174;91;178	ENSP00000315122:E174Q;ENSP00000446113:E91Q;ENSP00000287295:E178Q	ENSP00000287295:E178Q	E	-	1	0	AIFM1	129109222	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.285000	0.78660	2.317000	0.78254	0.544000	0.68410	GAA		0.413	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			20	51	0	0	0	0	20	51				
RERE	473	broad.mit.edu	37	1	8421141	8421142	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:8421141_8421142insG	ENST00000337907.3	-	19	3059_3060	c.2425_2426insC	c.(2425-2427)cagfs	p.Q809fs	RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Frame_Shift_Ins_p.Q255fs|RERE_ENST00000400908.2_Frame_Shift_Ins_p.Q809fs|RERE_ENST00000377464.1_Frame_Shift_Ins_p.Q541fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	809	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		gggCGGCCGCTGGGGGTGCAAG	0.718																																						uc001ape.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2425-2427)CAGfs		atrophin-1 like protein isoform a																																				SO:0001589	frameshift_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8421141_8421142insG	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2426dupC	1.37:g.8421146_8421146dupG	ENSP00000338629:p.Gln809fs					RERE_uc001apf.2_Frame_Shift_Ins_p.Q809fs|RERE_uc010nzx.1_Frame_Shift_Ins_p.Q541fs|RERE_uc001apd.2_Frame_Shift_Ins_p.Q255fs	p.Q809fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	19	3235_3236	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	809			Pro-rich.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Frame_Shift_Ins	INS	ENST00000337907.3	37	c.2425_2426insC	CCDS95.1																																																																																				0.718	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			2	4	NA	NA	NA	NA	2	4	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139412593	139412594	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr9:139412593_139412594insGA	ENST00000277541.6	-	7	1325_1326	c.1250_1251insTC	c.(1249-1251)tcgfs	p.S417fs	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	417	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCTACCCAGCGAGCACTCATC	0.663			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1249-1251)TCGfs		notch1 preproprotein																																				SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412593_139412594insGA	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1249_1250dupTC	9.37:g.139412594_139412595dupGA	ENSP00000277541:p.Ser417fs	HNSCC(8;0.001)					p.S417fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	7	1250_1251	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	417			Extracellular (Potential).|EGF-like 11; calcium-binding (Potential).		Q59ED8|Q5SXM3	Frame_Shift_Ins	INS	ENST00000277541.6	37	c.1250_1251insTC	CCDS43905.1																																																																																				0.663	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		7	7	NA	NA	NA	NA	7	7	---	---	---	---
